{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T07:49:08Z","timestamp":1771055348566,"version":"3.50.1"},"reference-count":162,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T00:00:00Z","timestamp":1641945600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T00:00:00Z","timestamp":1641945600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clinic Rev Allerg Immunol"],"DOI":"10.1007\/s12016-021-08881-2","type":"journal-article","created":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T14:07:16Z","timestamp":1641996436000},"page":"55-74","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Novel Genetic Discoveries in Primary Immunodeficiency Disorders"],"prefix":"10.1007","volume":"63","author":[{"given":"Margaret T.","family":"Redmond","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Scherzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin T.","family":"Prince","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,1,12]]},"reference":[{"issue":"1","key":"8881_CR1","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1007\/s10875-019-00737-x","volume":"40","author":"SG Tangye","year":"2020","unstructured":"Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A et al (2020) Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 40(1):24\u201364","journal-title":"J Clin Immunol"},{"issue":"3","key":"8881_CR2","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1007\/s10875-021-00980-1","volume":"41","author":"SG Tangye","year":"2021","unstructured":"Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM et al (2021) The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS Committee. J Clin Immunol 41(3):666\u2013679","journal-title":"J Clin Immunol"},{"key":"8881_CR3","doi-asserted-by":"crossref","unstructured":"Bacchelli C, Moretti FA, Carmo M, Adams S, Stanescu HC, Pearce K et al (2017) Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency. J Allergy Clin Immunol 139(2):634\u201342 e5","DOI":"10.1016\/j.jaci.2016.05.036"},{"issue":"7","key":"8881_CR4","doi-asserted-by":"publisher","first-page":"1185","DOI":"10.1084\/jem.20151110","volume":"213","author":"B Keller","year":"2016","unstructured":"Keller B, Zaidman I, Yousefi OS, Hershkovitz D, Stein J, Unger S et al (2016) Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT. J Exp Med 213(7):1185\u20131199","journal-title":"J Exp Med"},{"key":"8881_CR5","doi-asserted-by":"crossref","unstructured":"Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS et al (2021) Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects. J Exp Med 218(3):e20201062","DOI":"10.1084\/jem.20201062"},{"issue":"2","key":"8881_CR6","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/j.ajhg.2017.01.013","volume":"100","author":"MM Oud","year":"2017","unstructured":"Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S et al (2017) Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. Am J Hum Genet 100(2):281\u2013296","journal-title":"Am J Hum Genet"},{"key":"8881_CR7","doi-asserted-by":"crossref","unstructured":"Smits BM, Lelieveld PHC, Ververs FA, Turkenburg M, de Koning C, van Dijk M et al (2020) A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease. Clin Immunol 212:108248","DOI":"10.1016\/j.clim.2019.108248"},{"key":"8881_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.clim.2019.05.003","volume":"205","author":"SO Sharapova","year":"2019","unstructured":"Sharapova SO, Haapaniemi E, Sakovich IS, Kostyuchenko LV, Donko A, Dulau-Florea A et al (2019) Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections. Clin Immunol 205:1\u20135","journal-title":"Clin Immunol"},{"issue":"18","key":"8881_CR9","doi-asserted-by":"publisher","first-page":"1977","DOI":"10.1182\/blood-2018-11-886028","volume":"133","author":"AP Hsu","year":"2019","unstructured":"Hsu AP, Donko A, Arrington ME, Swamydas M, Fink D, Das A et al (2019) Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects. Blood 133(18):1977\u20131988","journal-title":"Blood"},{"key":"8881_CR10","doi-asserted-by":"crossref","unstructured":"Lougaris V, Chou J, Beano A, Wallace JG, Baronio M, Gazzurelli L et al (2019)\u00a0A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency. J Allergy Clin Immunol 143(4):1649\u201353 e3","DOI":"10.1016\/j.jaci.2019.01.001"},{"issue":"6","key":"8881_CR11","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1111\/cge.13085","volume":"92","author":"I Paganini","year":"2017","unstructured":"Paganini I, Sestini R, Capone GL, Putignano AL, Contini E, Giotti I et al (2017) A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. Clin Genet 92(6):664\u2013668","journal-title":"Clin Genet"},{"key":"8881_CR12","doi-asserted-by":"crossref","unstructured":"Yamazaki Y, Urrutia R, Franco LM, Giliani S, Zhang K, Alazami AM et al (2020) PAX1 is essential for development and function of the human thymus. Sci Immunol 5(44):eaax1036","DOI":"10.1126\/sciimmunol.aax1036"},{"issue":"3","key":"8881_CR13","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1016\/j.ajhg.2019.07.014","volume":"105","author":"M Bosticardo","year":"2019","unstructured":"Bosticardo M, Yamazaki Y, Cowan J, Giardino G, Corsino C, Scalia G et al (2019) Heterozygous FOXN1 variants cause low TRECs and severe T cell lymphopenia, revealing a crucial role of FOXN1 in supporting early thymopoiesis. Am J Hum Genet 105(3):549\u2013561","journal-title":"Am J Hum Genet"},{"key":"8881_CR14","doi-asserted-by":"publisher","unstructured":"Beziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A et al (2019)\u00a0A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Sci Immunol 3(24):eaat4956. https:\/\/doi.org\/10.1126\/sciimmunol.aat4956","DOI":"10.1126\/sciimmunol.aat4956"},{"key":"8881_CR15","doi-asserted-by":"publisher","unstructured":"Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC et al (2018) ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol 3(24):eaat4941. https:\/\/doi.org\/10.1126\/sciimmunol.aat4941","DOI":"10.1126\/sciimmunol.aat4941"},{"issue":"9","key":"8881_CR16","doi-asserted-by":"publisher","first-page":"1986","DOI":"10.1084\/jem.20190344","volume":"216","author":"S Spencer","year":"2019","unstructured":"Spencer S, Kostel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA et al (2019) Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. J Exp Med 216(9):1986\u20131998","journal-title":"J Exp Med"},{"issue":"9","key":"8881_CR17","doi-asserted-by":"publisher","first-page":"2547","DOI":"10.1084\/jem.20161810","volume":"214","author":"T Schwerd","year":"2017","unstructured":"Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB et al (2017) A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. J Exp Med 214(9):2547\u20132562","journal-title":"J Exp Med"},{"issue":"3","key":"8881_CR18","doi-asserted-by":"publisher","first-page":"609","DOI":"10.3324\/haematol.2018.194233","volume":"104","author":"T Shahin","year":"2019","unstructured":"Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W et al (2019) Selective loss of function variants in IL6ST cause hyper-IgE syndrome with distinct impairments of T-cell phenotype and function. Haematologica 104(3):609\u2013621","journal-title":"Haematologica"},{"key":"8881_CR19","doi-asserted-by":"crossref","unstructured":"Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjo A et al (2020) Absence of GP130 cytokine receptor signaling causes extended Stuve-Wiedemann syndrome. J Exp Med 217(3):e20191306","DOI":"10.1084\/jem.20191306"},{"issue":"6","key":"8881_CR20","doi-asserted-by":"publisher","first-page":"1182","DOI":"10.1016\/j.ajhg.2019.04.011","volume":"104","author":"D Monies","year":"2019","unstructured":"Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N et al (2019) Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. Am J Hum Genet 104(6):1182\u20131201","journal-title":"Am J Hum Genet"},{"key":"8881_CR21","unstructured":"Beziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A et al (2020) Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217(6):e20191804"},{"issue":"3","key":"8881_CR22","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1084\/jem.20161435","volume":"214","author":"JJ Lyons","year":"2017","unstructured":"Lyons JJ, Liu Y, Ma CA, Yu X, O\u2019Connell MP, Lawrence MG et al (2017) ERBIN deficiency links STAT3 and TGF-beta pathway defects with atopy in humans. J Exp Med 214(3):669\u2013680","journal-title":"J Exp Med"},{"issue":"8","key":"8881_CR23","doi-asserted-by":"publisher","first-page":"1192","DOI":"10.1038\/ng.3898","volume":"49","author":"CA Ma","year":"2017","unstructured":"Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ et al (2017) Germline hypomorphic CARD11 mutations in severe atopic disease. Nat Genet 49(8):1192\u20131201","journal-title":"Nat Genet"},{"issue":"1","key":"8881_CR24","doi-asserted-by":"publisher","first-page":"2105","DOI":"10.1038\/s41467-018-04521-0","volume":"9","author":"J Klammt","year":"2018","unstructured":"Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D et al (2018) Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Nat Commun 9(1):2105","journal-title":"Nat Commun"},{"issue":"6","key":"8881_CR25","doi-asserted-by":"publisher","first-page":"2296","DOI":"10.1016\/j.jaci.2019.02.003","volume":"143","author":"S Volpi","year":"2019","unstructured":"Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M et al (2019) A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol 143(6):2296\u20132299","journal-title":"J Allergy Clin Immunol"},{"issue":"22","key":"8881_CR26","doi-asserted-by":"publisher","first-page":"2362","DOI":"10.1182\/blood-2018-07-863431","volume":"132","author":"I Brigida","year":"2018","unstructured":"Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S et al (2018) T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency. Blood 132(22):2362\u20132374","journal-title":"Blood"},{"key":"8881_CR27","doi-asserted-by":"publisher","first-page":"14816","DOI":"10.1038\/ncomms14816","volume":"8","author":"WH Kahr","year":"2017","unstructured":"Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH et al (2017) Loss of the Arp2\/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease. Nat Commun 8:14816","journal-title":"Nat Commun"},{"issue":"8","key":"8881_CR28","doi-asserted-by":"publisher","first-page":"2881","DOI":"10.1172\/JCI82890","volume":"126","author":"SN van der Crabben","year":"2016","unstructured":"van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS et al (2016) Destabilized SMC5\/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest 126(8):2881\u20132892","journal-title":"J Clin Invest"},{"issue":"5","key":"8881_CR29","doi-asserted-by":"publisher","first-page":"1991","DOI":"10.1172\/JCI90727","volume":"127","author":"J Cottineau","year":"2017","unstructured":"Cottineau J, Kottemann MC, Lach FP, Kang YH, Vely F, Deenick EK et al (2017) Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. J Clin Invest 127(5):1991\u20132006","journal-title":"J Clin Invest"},{"issue":"7","key":"8881_CR30","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.1002\/eji.201948504","volume":"50","author":"T Niehues","year":"2020","unstructured":"Niehues T, Ozgur TT, Bickes M, Waldmann R, Schoning J, Brasen J et al (2020) Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome. Eur J Immunol 50(7):1078\u20131080","journal-title":"Eur J Immunol"},{"issue":"4","key":"8881_CR31","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1182\/blood.2020006441","volume":"137","author":"F Saettini","year":"2021","unstructured":"Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G et al (2021) Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood 137(4):493\u2013499","journal-title":"Blood"},{"key":"8881_CR32","doi-asserted-by":"crossref","unstructured":"Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, et al (2016) Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. J Allergy Clin Immunol 138(2):544\u201350 e4","DOI":"10.1016\/j.jaci.2016.01.018"},{"issue":"1","key":"8881_CR33","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1038\/s41467-017-00932-7","volume":"8","author":"P Huppke","year":"2017","unstructured":"Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S et al (2017) Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat Commun 8(1):818","journal-title":"Nat Commun"},{"issue":"3","key":"8881_CR34","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1016\/j.ymgme.2018.01.008","volume":"123","author":"B Dimitrov","year":"2018","unstructured":"Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Luchtenborg C, Okun JG, Breuer M et al (2018) Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. Mol Genet Metab 123(3):364\u2013374","journal-title":"Mol Genet Metab"},{"key":"8881_CR35","doi-asserted-by":"publisher","first-page":"11600","DOI":"10.1038\/ncomms11600","volume":"7","author":"EJ Jansen","year":"2016","unstructured":"Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA et al (2016) ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nat Commun 7:11600","journal-title":"Nat Commun"},{"issue":"4","key":"8881_CR36","doi-asserted-by":"publisher","first-page":"694","DOI":"10.1002\/jimd.12237","volume":"43","author":"N Ondruskova","year":"2020","unstructured":"Ondruskova N, Honzik T, Vondrackova A, Stranecky V, Tesarova M, Zeman J et al (2020) Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation. J Inherit Metab Dis 43(4):694\u2013700","journal-title":"J Inherit Metab Dis"},{"key":"8881_CR37","doi-asserted-by":"crossref","unstructured":"Tvina A, Thomsen A, Palatnik A (2020) Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene. Eur J Med Genet 63(6):103881","DOI":"10.1016\/j.ejmg.2020.103881"},{"issue":"3","key":"8881_CR38","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1172\/JCI120572","volume":"129","author":"A Bouafia","year":"2019","unstructured":"Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A et al (2019) Loss of ARHGEF1 causes a human primary antibody deficiency. J Clin Invest 129(3):1047\u20131060","journal-title":"J Clin Invest"},{"issue":"5","key":"8881_CR39","doi-asserted-by":"publisher","first-page":"1327","DOI":"10.1084\/jem.20170534","volume":"215","author":"B Keller","year":"2018","unstructured":"Keller B, Shoukier M, Schulz K, Bhatt A, Heine I, Strohmeier V et al (2018) Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency. J Exp Med 215(5):1327\u20131336","journal-title":"J Exp Med"},{"issue":"4","key":"8881_CR40","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1016\/j.jaci.2017.06.042","volume":"141","author":"D Schubert","year":"2018","unstructured":"Schubert D, Klein MC, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M et al (2018) Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1). J Allergy Clin Immunol 141(4):1427\u20131438","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"8881_CR41","doi-asserted-by":"publisher","first-page":"4364","DOI":"10.1038\/s41467-019-12311-5","volume":"10","author":"AJ Takeda","year":"2019","unstructured":"Takeda AJ, Maher TJ, Zhang Y, Lanahan SM, Bucklin ML, Compton SR et al (2019) Human PI3Kgamma deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology. Nat Commun 10(1):4364","journal-title":"Nat Commun"},{"key":"8881_CR42","doi-asserted-by":"crossref","unstructured":"Thian M, Hoeger B, Kamnev A, Poyer F, Kostel Bal S, Caldera M et al (2020) Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation. Haematologica 105(10):e488","DOI":"10.3324\/haematol.2019.231399"},{"issue":"8","key":"8881_CR43","first-page":"4411","volume":"130","author":"M Kuhny","year":"2020","unstructured":"Kuhny M, Forbes LR, Cakan E, Vega-Loza A, Kostiuk V, Dinesh RK et al (2020) Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest 130(8):4411\u20134422","journal-title":"J Clin Invest"},{"key":"8881_CR44","doi-asserted-by":"crossref","unstructured":"Yeh TW, Okano T, Naruto T, Yamashita M, Okamura M, Tanita K et al (2020) APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans. J Allergy Clin Immunol 146(5):1109\u201320 e4","DOI":"10.1016\/j.jaci.2020.03.025"},{"issue":"Suppl 1","key":"8881_CR45","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1007\/s10875-016-0294-1","volume":"36","author":"E Allenspach","year":"2016","unstructured":"Allenspach E, Torgerson TR (2016) Autoimmunity and primary immunodeficiency disorders. J Clin Immunol 36(Suppl 1):57\u201367","journal-title":"J Clin Immunol"},{"issue":"1","key":"8881_CR46","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1038\/83713","volume":"27","author":"CL Bennett","year":"2001","unstructured":"Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L et al (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 27(1):20\u201321","journal-title":"Nat Genet"},{"issue":"6","key":"8881_CR47","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1084\/jem.20182015","volume":"216","author":"IZ Fernandez","year":"2019","unstructured":"Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS et al (2019) A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. J Exp Med 216(6):1255\u20131267","journal-title":"J Exp Med"},{"issue":"6","key":"8881_CR48","doi-asserted-by":"publisher","first-page":"1311","DOI":"10.1084\/jem.20182304","volume":"216","author":"Z Zhang","year":"2019","unstructured":"Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP et al (2019) Human interleukin-2 receptor beta mutations associated with defects in immunity and peripheral tolerance. J Exp Med 216(6):1311\u20131327","journal-title":"J Exp Med"},{"key":"8881_CR49","doi-asserted-by":"publisher","first-page":"2609737","DOI":"10.1155\/2019\/2609737","volume":"2019","author":"L Yang","year":"2019","unstructured":"Yang L, Chen S, Zhao Q, Sun Y, Nie H (2019) The critical role of Bach2 in shaping the balance between CD4(+) T cell subsets in immune-mediated diseases. Mediators Inflamm 2019:2609737","journal-title":"Mediators Inflamm"},{"issue":"7","key":"8881_CR50","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1038\/ni.3753","volume":"18","author":"B Afzali","year":"2017","unstructured":"Afzali B, Gronholm J, Vandrovcova J, O\u2019Brien C, Sun HW, Vanderleyden I et al (2017) BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. Nat Immunol 18(7):813\u2013823","journal-title":"Nat Immunol"},{"issue":"1","key":"8881_CR51","doi-asserted-by":"publisher","first-page":"3106","DOI":"10.1038\/s41467-019-10812-x","volume":"10","author":"NK Serwas","year":"2019","unstructured":"Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N et al (2019) Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis. Nat Commun 10(1):3106","journal-title":"Nat Commun"},{"key":"8881_CR52","doi-asserted-by":"crossref","unstructured":"Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E et al (2021) DEF6 deficiency, a Mendelian susceptibility to EBV infection, lymphoma, and autoimmunity. J Allergy Clin Immunol 147(2):740\u20133 e9","DOI":"10.1016\/j.jaci.2020.05.052"},{"issue":"1","key":"8881_CR53","doi-asserted-by":"publisher","first-page":"5341","DOI":"10.1038\/s41467-020-18925-4","volume":"11","author":"J Hadjadj","year":"2020","unstructured":"Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N et al (2020) Early-onset autoimmunity associated with SOCS1 haploinsufficiency. Nat Commun 11(1):5341","journal-title":"Nat Commun"},{"issue":"7814","key":"8881_CR54","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1038\/s41586-020-2265-1","volume":"583","author":"JED Thaventhiran","year":"2020","unstructured":"Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E et al (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature 583(7814):90\u201395","journal-title":"Nature"},{"key":"8881_CR55","doi-asserted-by":"crossref","unstructured":"Lee PY, Platt CD, Weeks S, Grace RF, Maher G, Gauthier K et al (2020) Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J Allergy Clin Immunol 146(5):1194\u2013200 e1","DOI":"10.1016\/j.jaci.2020.07.033"},{"issue":"2","key":"8881_CR56","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1084\/jem.20150888","volume":"213","author":"AY Chan","year":"2016","unstructured":"Chan AY, Punwani D, Kadlecek TA, Cowan MJ, Olson JL, Mathes EF et al (2016) A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70. J Exp Med 213(2):155\u2013165","journal-title":"J Exp Med"},{"issue":"16","key":"8881_CR57","doi-asserted-by":"publisher","first-page":"1332","DOI":"10.1182\/blood.2019000936","volume":"135","author":"SW Canna","year":"2020","unstructured":"Canna SW, Marsh RA (2020) Pediatric hemophagocytic lymphohistiocytosis. Blood 135(16):1332\u20131343","journal-title":"Blood"},{"issue":"8","key":"8881_CR58","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1182\/blood-2015-09-671636","volume":"127","author":"S Ammann","year":"2016","unstructured":"Ammann S, Schulz A, Krageloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S et al (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood 127(8):997\u20131006","journal-title":"Blood"},{"issue":"12","key":"8881_CR59","doi-asserted-by":"publisher","first-page":"1650","DOI":"10.1038\/s41588-018-0251-4","volume":"50","author":"T Gayden","year":"2018","unstructured":"Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A et al (2018) Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. Nat Genet 50(12):1650\u20131657","journal-title":"Nat Genet"},{"key":"8881_CR60","doi-asserted-by":"crossref","unstructured":"Wegehaupt O, Gross M, Wehr C, Marks R, Schmitt-Graeff A, Uhl M et al (2020) TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 67(6):e28302","DOI":"10.1002\/pbc.28302"},{"issue":"13","key":"8881_CR61","first-page":"1058","volume":"135","author":"G Sonigo","year":"2020","unstructured":"Sonigo G, Battistella M, Beylot-Barry M, Ingen-Housz-Oro S, Franck N, Barete S et al (2020) HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma. Blood 135(13):1058\u20131061","journal-title":"Blood"},{"issue":"1","key":"8881_CR62","doi-asserted-by":"publisher","first-page":"e80","DOI":"10.1097\/MPH.0000000000001954","volume":"43","author":"P Chaweephisal","year":"2021","unstructured":"Chaweephisal P, Sosothikul D, Polprasert C, Wananukul S, Seksarn P (2021) Subcutaneous panniculitis-like T-cell lymphoma with hemophagocytic lymphohistiocytosis syndrome in children and its essential role of HAVCR2 gene mutation analysis. J Pediatr Hematol Oncol 43(1):e80\u2013e84","journal-title":"J Pediatr Hematol Oncol"},{"issue":"10","key":"8881_CR63","doi-asserted-by":"publisher","first-page":"5272","DOI":"10.1172\/JCI134966","volume":"130","author":"EM Mace","year":"2020","unstructured":"Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL et al (2020) Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest 130(10):5272\u20135286","journal-title":"J Clin Invest"},{"issue":"1","key":"8881_CR64","doi-asserted-by":"publisher","first-page":"1626","DOI":"10.1038\/s41467-021-21878-x","volume":"12","author":"RM Baxley","year":"2021","unstructured":"Baxley RM, Leung W, Schmit MM, Matson JP, Yin L, Oram MK et al (2021) Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening. Nat Commun 12(1):1626","journal-title":"Nat Commun"},{"key":"8881_CR65","doi-asserted-by":"crossref","unstructured":"Castro CN, Rosenzwajg M, Carapito R, Shahrooei M, Konantz M, Khan A et al (2020) NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation. J Exp Med 217(12):e20192275","DOI":"10.1084\/jem.20192275"},{"issue":"6500","key":"8881_CR66","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1126\/science.aay5663","volume":"369","author":"SA Cook","year":"2020","unstructured":"Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ et al (2020) HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369(6500):202\u2013207","journal-title":"Science"},{"key":"8881_CR67","doi-asserted-by":"publisher","unstructured":"Salzer E, Zoghi S, Kiss MG, Kage F, Rashkova C, Stahnke S et al (2020) The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity. Sci Immunol 5(49):eabc3979. https:\/\/doi.org\/10.1126\/sciimmunol.abc3979","DOI":"10.1126\/sciimmunol.abc3979"},{"key":"8881_CR68","doi-asserted-by":"crossref","unstructured":"Del Bel KL, Ragotte RJ, Saferali A, Lee S, Vercauteren SM, Mostafavi SA et al (2017) JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome. J Allergy Clin Immunol 139(6):2016\u201320 e5","DOI":"10.1016\/j.jaci.2016.12.957"},{"key":"8881_CR69","doi-asserted-by":"crossref","unstructured":"Gruber CN, Calis JJA, Buta S, Evrony G, Martin JC, Uhl SA et al (2020) Complex autoinflammatory syndrome unveils fundamental principles of JAK1 kinase transcriptional and biochemical function. Immunity 53(3):672\u201384 e11","DOI":"10.1016\/j.immuni.2020.07.006"},{"issue":"5","key":"8881_CR70","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1182\/blood-2016-09-737817","volume":"129","author":"CA Ma","year":"2017","unstructured":"Ma CA, Xi L, Cauff B, DeZure A, Freeman AF, Hambleton S et al (2017) Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea. Blood 129(5):650\u2013653","journal-title":"Blood"},{"issue":"22","key":"8881_CR71","doi-asserted-by":"publisher","first-page":"4541","DOI":"10.1182\/blood-2012-12-474577","volume":"121","author":"HL Rajala","year":"2013","unstructured":"Rajala HL, Eldfors S, Kuusanmaki H, van Adrichem AJ, Olson T, Lagstrom S et al (2013) Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia. Blood 121(22):4541\u20134550","journal-title":"Blood"},{"issue":"1","key":"8881_CR72","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.iac.2018.08.008","volume":"39","author":"JR Kelsen","year":"2019","unstructured":"Kelsen JR, Russo P, Sullivan KE (2019) Early-onset inflammatory bowel disease. Immunol Allergy Clin North Am 39(1):63\u201379","journal-title":"Immunol Allergy Clin North Am"},{"issue":"3","key":"8881_CR73","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1038\/s41588-018-0063-6","volume":"50","author":"D Kotlarz","year":"2018","unstructured":"Kotlarz D, Marquardt B, Baroy T, Lee WS, Konnikova L, Hollizeck S et al (2018) Human TGF-beta1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nat Genet 50(3):344\u2013348","journal-title":"Nat Genet"},{"issue":"6404","key":"8881_CR74","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1126\/science.aar2641","volume":"361","author":"D Cuchet-Lourenco","year":"2018","unstructured":"Cuchet-Lourenco D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J et al (2018) Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. Science 361(6404):810\u2013813","journal-title":"Science"},{"key":"8881_CR75","doi-asserted-by":"crossref","unstructured":"Parlato M, Charbit-Henrion F, Pan J, Romano C, Duclaux-Loras R, Le Du MH et al (2018) Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis. EMBO Mol Med 10(4):e8483","DOI":"10.15252\/emmm.201708483"},{"key":"8881_CR76","doi-asserted-by":"crossref","unstructured":"Li Q, Lee CH, Peters LA, Mastropaolo LA, Thoeni C, Elkadri A et al (2016) Variants in TRIM22 that affect NOD2 signaling are associated with very-early-onset inflammatory bowel disease. gastroenterology 150(5):1196\u2013207","DOI":"10.1053\/j.gastro.2016.01.031"},{"key":"8881_CR77","doi-asserted-by":"crossref","unstructured":"Ashton JJ, Mossotto E, Stafford IS, Haggarty R, Coelho TAF, Batra A et al (2020) Genetic sequencing of pediatric patients identifies mutations in monogenic inflammatory bowel disease genes that translate to distinct clinical phenotypes. Clin Transl Gastroenterol 11(2):e00129","DOI":"10.14309\/ctg.0000000000000129"},{"issue":"1","key":"8881_CR78","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1056\/NEJMoa1615887","volume":"377","author":"A Ozen","year":"2017","unstructured":"Ozen A, Comrie WA, Ardy RC, Dominguez Conde C, Dalgic B, Beser OF et al (2017) CD55 deficiency, early-onset protein-losing enteropathy, and thrombosis. N Engl J Med 377(1):52\u201361","journal-title":"N Engl J Med"},{"issue":"1","key":"8881_CR79","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1007\/s10875-020-00758-x","volume":"40","author":"A Bousfiha","year":"2020","unstructured":"Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T et al (2020) Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol 40(1):66\u201381","journal-title":"J Clin Immunol"},{"issue":"2","key":"8881_CR80","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1007\/s12016-020-08798-2","volume":"59","author":"J Jiang","year":"2020","unstructured":"Jiang J, Zhao M, Chang C, Wu H, Lu Q (2020) Type I interferons in the pathogenesis and treatment of autoimmune diseases. Clin Rev Allergy Immunol 59(2):248\u2013272","journal-title":"Clin Rev Allergy Immunol"},{"issue":"7","key":"8881_CR81","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1084\/jem.20151529","volume":"213","author":"ME Meuwissen","year":"2016","unstructured":"Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD et al (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J Exp Med 213(7):1163\u20131174","journal-title":"J Exp Med"},{"issue":"3","key":"8881_CR82","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1056\/NEJMoa1905633","volume":"382","author":"F Alsohime","year":"2020","unstructured":"Alsohime F, Martin-Fernandez M, Temsah MH, Alabdulhafid M, Le Voyer T, Alghamdi M et al (2020) JAK inhibitor therapy in a child with inherited USP18 deficiency. N Engl J Med 382(3):256\u2013265","journal-title":"N Engl J Med"},{"key":"8881_CR83","doi-asserted-by":"crossref","unstructured":"Gruber C, Martin-Fernandez M, Ailal F, Qiu X, Taft J, Altman J et al (2020)\u00a0Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. J Exp Med 217(5):e20192319","DOI":"10.1084\/jem.20192319"},{"issue":"3","key":"8881_CR84","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1016\/j.ajhg.2018.01.019","volume":"102","author":"K Cho","year":"2018","unstructured":"Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M et al (2018) Heterozygous mutations in OAS1 cause infantile-onset pulmonary alveolar proteinosis with hypogammaglobulinemia. Am J Hum Genet 102(3):480\u2013486","journal-title":"Am J Hum Genet"},{"issue":"7","key":"8881_CR85","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1038\/nri3850","volume":"15","author":"YJ Crow","year":"2015","unstructured":"Crow YJ, Manel N (2015) Aicardi-Goutieres syndrome and the type I interferonopathies. Nat Rev Immunol 15(7):429\u2013440","journal-title":"Nat Rev Immunol"},{"issue":"12","key":"8881_CR86","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1038\/s41588-020-00737-3","volume":"52","author":"C Uggenti","year":"2020","unstructured":"Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT et al (2020) cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat Genet 52(12):1364\u20131372","journal-title":"Nat Genet"},{"issue":"11","key":"8881_CR87","doi-asserted-by":"publisher","first-page":"2822","DOI":"10.1002\/ajmg.a.37275","volume":"167A","author":"T Takenouchi","year":"2015","unstructured":"Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K (2015) Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: yet another locus for thrombocytopenia and developmental delay. Am J Med Genet A 167A(11):2822\u20132825","journal-title":"Am J Med Genet A"},{"issue":"4","key":"8881_CR88","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1002\/ajmg.a.37526","volume":"170A","author":"T Takenouchi","year":"2016","unstructured":"Takenouchi T, Okamoto N, Ida S, Uehara T, Kosaki K (2016) Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. Am J Med Genet A 170A(4):852\u2013855","journal-title":"Am J Med Genet A"},{"issue":"2","key":"8881_CR89","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1016\/j.ajhg.2017.12.015","volume":"102","author":"S Martinelli","year":"2018","unstructured":"Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L et al (2018) Functional dysregulation of CDC42 causes diverse developmental phenotypes. Am J Hum Genet 102(2):309\u2013320","journal-title":"Am J Hum Genet"},{"key":"8881_CR90","doi-asserted-by":"crossref","unstructured":"Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K et al (2018) A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome. J Hum Genet 63(3):387\u201390","DOI":"10.1038\/s10038-017-0396-5"},{"issue":"1","key":"8881_CR91","doi-asserted-by":"publisher","first-page":"4418","DOI":"10.1038\/s41598-019-40988-7","volume":"9","author":"T Uehara","year":"2019","unstructured":"Uehara T, Suzuki H, Okamoto N, Kondoh T, Ahmad A, O\u2019Connor BC et al (2019) Pathogenetic basis of Takenouchi-Kosaki syndrome: electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model. Sci Rep 9(1):4418","journal-title":"Sci Rep"},{"issue":"4","key":"8881_CR92","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1007\/s10875-020-00742-5","volume":"40","author":"G Bucciol","year":"2020","unstructured":"Bucciol G, Pillay B, Casas-Martin J, Delafontaine S, Proesmans M, Lorent N et al (2020) Systemic inflammation and myelofibrosis in a patient with Takenouchi-Kosaki syndrome due to CDC42 Tyr64Cys mutation. J Clin Immunol 40(4):567\u2013570","journal-title":"J Clin Immunol"},{"issue":"4","key":"8881_CR93","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1007\/s10875-020-00778-7","volume":"40","author":"JM Verboon","year":"2020","unstructured":"Verboon JM, Mahmut D, Kim AR, Nakamura M, Abdulhay NJ, Nandakumar SK et al (2020) Infantile Myelofibrosis and myeloproliferation with CDC42 dysfunction. J Clin Immunol 40(4):554\u2013566","journal-title":"J Clin Immunol"},{"issue":"12","key":"8881_CR94","doi-asserted-by":"publisher","first-page":"2778","DOI":"10.1084\/jem.20190147","volume":"216","author":"MT Lam","year":"2019","unstructured":"Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C et al (2019) A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med 216(12):2778\u20132799","journal-title":"J Exp Med"},{"key":"8881_CR95","doi-asserted-by":"crossref","unstructured":"Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D et al (2019) Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1beta inhibition. J Allergy Clin Immuno 144(4):1122\u20135 e6","DOI":"10.1016\/j.jaci.2019.06.017"},{"issue":"4","key":"8881_CR96","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1007\/s10875-020-00786-7","volume":"40","author":"T He","year":"2020","unstructured":"He T, Huang Y, Ling J, Yang J (2020) A new patient with NOCARH syndrome due to CDC42 defect. J Clin Immunol 40(4):571\u2013575","journal-title":"J Clin Immunol"},{"key":"8881_CR97","doi-asserted-by":"crossref","unstructured":"Bekhouche B, Tourville A, Ravichandran Y, Tacine R, Abrami L, Dussiot M et al (2020) A toxic palmitoylation of Cdc42 enhances NF-kappaB signaling and drives a severe autoinflammatory syndrome. J Allergy Clin Immunol\u00a0146(5):1201\u20134 e8","DOI":"10.1016\/j.jaci.2020.03.020"},{"key":"8881_CR98","doi-asserted-by":"publisher","first-page":"318","DOI":"10.3389\/fimmu.2020.00318","volume":"11","author":"A Szczawinska-Poplonyk","year":"2020","unstructured":"Szczawinska-Poplonyk A, Ploski R, Bernatowska E, Pac M (2020) A novel CDC42 mutation in an 11-year old child manifesting as syndromic immunodeficiency, autoinflammation, hemophagocytic lymphohistiocytosis, and malignancy: a case report. Front Immunol 11:318","journal-title":"Front Immunol"},{"key":"8881_CR99","doi-asserted-by":"publisher","first-page":"1840","DOI":"10.3389\/fimmu.2020.01840","volume":"11","author":"S Alehashemi","year":"2020","unstructured":"Alehashemi S, Goldbach-Mansky R (2020) Human autoinflammatory diseases mediated by NLRP3-, Pyrin-, NLRP1-, and NLRC4-inflammasome dysregulation updates on diagnosis, treatment, and the respective roles of IL-1 and IL-18. Front Immunol 11:1840","journal-title":"Front Immunol"},{"issue":"2","key":"8881_CR100","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.jmb.2017.07.012","volume":"430","author":"CH Yu","year":"2018","unstructured":"Yu CH, Moecking J, Geyer M, Masters SL (2018) Mechanisms of NLRP1-mediated autoinflammatory disease in humans and mice. J Mol Biol 430(2):142\u2013152","journal-title":"J Mol Biol"},{"key":"8881_CR101","doi-asserted-by":"crossref","unstructured":"Zhong FL, Mamai O, Sborgi L, Boussofara L, Hopkins R, Robinson K et al (2016) Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation. Cell\u00a0167(1):187\u2013202 e17","DOI":"10.1016\/j.cell.2016.09.001"},{"issue":"38","key":"8881_CR102","doi-asserted-by":"publisher","first-page":"19055","DOI":"10.1073\/pnas.1906184116","volume":"116","author":"SB Drutman","year":"2019","unstructured":"Drutman SB, Haerynck F, Zhong FL, Hum D, Hernandez NJ, Belkaya S et al (2019) Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis. Proc Natl Acad Sci U S A 116(38):19055\u201319063","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"7","key":"8881_CR103","doi-asserted-by":"publisher","first-page":"1191","DOI":"10.1136\/annrheumdis-2016-210021","volume":"76","author":"S Grandemange","year":"2017","unstructured":"Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C et al (2017) A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). Ann Rheum Dis 76(7):1191\u20131198","journal-title":"Ann Rheum Dis"},{"issue":"7788","key":"8881_CR104","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1038\/s41586-019-1830-y","volume":"577","author":"P Tao","year":"2020","unstructured":"Tao P, Sun J, Wu Z, Wang S, Wang J, Li W et al (2020) A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature 577(7788):109\u2013114","journal-title":"Nature"},{"issue":"7788","key":"8881_CR105","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1038\/s41586-019-1828-5","volume":"577","author":"N Lalaoui","year":"2020","unstructured":"Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D et al (2020) Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Nature 577(7788):103\u2013108","journal-title":"Nature"},{"key":"8881_CR106","doi-asserted-by":"crossref","unstructured":"Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR et al (2016) The deubiquitinase OTULIN is an essential negative regulator of inflammation and autoimmunity. Cell 166(5):1215\u201330 e20","DOI":"10.1016\/j.cell.2016.07.019"},{"key":"8881_CR107","doi-asserted-by":"crossref","unstructured":"Damgaard RB, Elliott PR, Swatek KN, Maher ER, Stepensky P, Elpeleg O et al (2019) OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death. EMBO Mol Med 11(3):e9324","DOI":"10.15252\/emmm.201809324"},{"issue":"36","key":"8881_CR108","doi-asserted-by":"publisher","first-page":"10127","DOI":"10.1073\/pnas.1612594113","volume":"113","author":"Q Zhou","year":"2016","unstructured":"Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL et al (2016) Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci U S A 113(36):10127\u201310132","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"8881_CR109","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1007\/s10875-019-00599-3","volume":"39","author":"M Nabavi","year":"2019","unstructured":"Nabavi M, Shahrooei M, Rokni-Zadeh H, Vrancken J, Changi-Ashtiani M, Darabi K et al (2019) Auto-inflammation in a patient with a novel homozygous OTULIN mutation. J Clin Immunol 39(2):138\u2013141","journal-title":"J Clin Immunol"},{"issue":"5","key":"8881_CR110","doi-asserted-by":"publisher","first-page":"1457","DOI":"10.1038\/s41418-020-0532-1","volume":"27","author":"RB Damgaard","year":"2020","unstructured":"Damgaard RB, Jolin HE, Allison MED, Davies SE, Titheradge HL, McKenzie ANJ et al (2020) OTULIN protects the liver against cell death, inflammation, fibrosis, and cancer. Cell Death Differ 27(5):1457\u20131474","journal-title":"Cell Death Differ"},{"issue":"5","key":"8881_CR111","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1136\/annrheumdis-2017-212403","volume":"77","author":"FA Aeschlimann","year":"2018","unstructured":"Aeschlimann FA, Batu ED, Canna SW, Go E, Gul A, Hoffmann P et al (2018) A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. Ann Rheum Dis 77(5):728\u2013735","journal-title":"Ann Rheum Dis"},{"issue":"5","key":"8881_CR112","doi-asserted-by":"publisher","first-page":"742","DOI":"10.1038\/ng.3833","volume":"49","author":"M Witzel","year":"2017","unstructured":"Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M et al (2017) Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat Genet 49(5):742\u2013752","journal-title":"Nat Genet"},{"key":"8881_CR113","doi-asserted-by":"crossref","unstructured":"Schim van der Loeff I, Sprenkeler EGG, Tool ATJ, Abinun M, Grainger A, Engelhardt KR et al (2020) Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2. J Allergy Clin Immunol\u00a0147(6):2381\u20132385 e2","DOI":"10.1016\/j.jaci.2020.11.025"},{"issue":"1","key":"8881_CR114","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.ajhg.2016.05.002","volume":"99","author":"H Tummala","year":"2016","unstructured":"Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S et al (2016) DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation. Am J Hum Genet 99(1):115\u2013124","journal-title":"Am J Hum Genet"},{"issue":"11","key":"8881_CR115","doi-asserted-by":"publisher","first-page":"1557","DOI":"10.1182\/blood-2016-08-735431","volume":"129","author":"S Dhanraj","year":"2017","unstructured":"Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M et al (2017) Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood 129(11):1557\u20131562","journal-title":"Blood"},{"issue":"3","key":"8881_CR116","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1111\/bjh.15594","volume":"185","author":"J Morini","year":"2019","unstructured":"Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A et al (2019) Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond syndrome carrying biallelic SBDS mutations. Br J Haematol 185(3):627\u2013630","journal-title":"Br J Haematol"},{"issue":"2","key":"8881_CR117","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1111\/cge.13370","volume":"94","author":"G D\u2019Amours","year":"2018","unstructured":"D\u2019Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R et al (2018) Refining the phenotype associated with biallelic DNAJC21 mutations. Clin Genet 94(2):252\u2013258","journal-title":"Clin Genet"},{"issue":"8","key":"8881_CR118","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1136\/jmedgenet-2016-104366","volume":"54","author":"P Stepensky","year":"2017","unstructured":"Stepensky P, Chacon-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N et al (2017) Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome. J Med Genet 54(8):558\u2013566","journal-title":"J Med Genet"},{"issue":"11","key":"8881_CR119","doi-asserted-by":"publisher","first-page":"4090","DOI":"10.1172\/JCI92876","volume":"127","author":"R Carapito","year":"2017","unstructured":"Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS et al (2017) Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. J Clin Invest 127(11):4090\u20134103","journal-title":"J Clin Invest"},{"issue":"12","key":"8881_CR120","doi-asserted-by":"publisher","first-page":"1318","DOI":"10.1182\/blood-2017-12-820308","volume":"132","author":"C Bellanne-Chantelot","year":"2018","unstructured":"Bellanne-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S et al (2018) Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome. Blood 132(12):1318\u20131331","journal-title":"Blood"},{"issue":"10","key":"8881_CR121","doi-asserted-by":"publisher","first-page":"1340","DOI":"10.1182\/blood.2020008115","volume":"137","author":"C Schurch","year":"2021","unstructured":"Schurch C, Schaefer T, Muller JS, Hanns P, Arnone M, Dumlin A et al (2021) SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing. Blood 137(10):1340\u20131352","journal-title":"Blood"},{"key":"8881_CR122","doi-asserted-by":"crossref","unstructured":"Haapaniemi EM, Fogarty CL, Keskitalo S, Katayama S, Vihinen H, Ilander M et al (2017)\u00a0Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1. J Allergy Clin Immunol\u00a0139(4):1391\u20133 e11","DOI":"10.1016\/j.jaci.2016.09.050"},{"issue":"17","key":"8881_CR123","doi-asserted-by":"publisher","first-page":"2135","DOI":"10.1182\/blood-2016-03-706028","volume":"128","author":"DB Kuhns","year":"2016","unstructured":"Kuhns DB, Fink DL, Choi U, Sweeney C, Lau K, Priel DL et al (2016) Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency. Blood 128(17):2135\u20132143","journal-title":"Blood"},{"issue":"1","key":"8881_CR124","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1084\/jem.20161228","volume":"214","author":"AS Standing","year":"2017","unstructured":"Standing AS, Malinova D, Hong Y, Record J, Moulding D, Blundell MP et al (2017) Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1. J Exp Med 214(1):59\u201371","journal-title":"J Exp Med"},{"key":"8881_CR125","doi-asserted-by":"crossref","unstructured":"Pfajfer L, Mair NK, Jimenez-Heredia R, Genel F, Gulez N, Ardeniz O et al (2017)\u00a0Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity. J Allergy Clin Immunol 142(5):1589\u2013604 e11","DOI":"10.1016\/j.jaci.2018.04.023"},{"issue":"5","key":"8881_CR126","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1016\/j.jaci.2019.06.003","volume":"144","author":"H Goos","year":"2019","unstructured":"Goos H, Fogarty CL, Sahu B, Plagnol V, Rajamaki K, Nurmi K et al (2019) Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy. J Allergy Clin Immunol 144(5):1364\u20131376","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"8881_CR127","doi-asserted-by":"publisher","first-page":"4447","DOI":"10.1038\/s41467-018-06964-x","volume":"9","author":"GA Arnadottir","year":"2018","unstructured":"Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO et al (2018) A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. Nat Commun 9(1):4447","journal-title":"Nat Commun"},{"issue":"1","key":"8881_CR128","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1084\/jem.20160784","volume":"214","author":"K Izawa","year":"2017","unstructured":"Izawa K, Martin E, Soudais C, Bruneau J, Boutboul D, Rodriguez R et al (2017) Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. J Exp Med 214(1):73\u201389","journal-title":"J Exp Med"},{"issue":"1","key":"8881_CR129","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1084\/jem.20160849","volume":"214","author":"H Abolhassani","year":"2017","unstructured":"Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M et al (2017) Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. J Exp Med 214(1):91\u2013106","journal-title":"J Exp Med"},{"key":"8881_CR130","doi-asserted-by":"publisher","first-page":"2015","DOI":"10.3389\/fimmu.2017.02015","volume":"8","author":"R Caorsi","year":"2017","unstructured":"Caorsi R, Rusmini M, Volpi S, Chiesa S, Pastorino C, Sementa AR et al (2017) CD70 deficiency due to a novel mutation in a patient with severe chronic EBV infection presenting as a periodic fever. Front Immunol 8:2015","journal-title":"Front Immunol"},{"issue":"18","key":"8881_CR131","doi-asserted-by":"publisher","first-page":"1510","DOI":"10.1182\/blood.2019000644","volume":"134","author":"I Somekh","year":"2019","unstructured":"Somekh I, Thian M, Medgyesi D, Gulez N, Magg T, Gallon Duque A et al (2019) CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis. Blood 134(18):1510\u20131516","journal-title":"Blood"},{"key":"8881_CR132","doi-asserted-by":"crossref","unstructured":"Alosaimi MF, Hoenig M, Jaber F, Platt CD, Jones J, Wallace J, et al. Immunodeficiency and EBV-induced lymphoproliferation caused by 4\u20131BB deficiency. J Allergy Clin Immunol. 2019;144(2):574\u201383 e5","DOI":"10.1016\/j.jaci.2019.03.002"},{"issue":"7","key":"8881_CR133","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1007\/s10875-016-0317-y","volume":"36","author":"S Daschkey","year":"2016","unstructured":"Daschkey S, Bienemann K, Schuster V, Kreth HW, Linka RM, Honscheid A et al (2016) Fatal lymphoproliferative disease in two siblings lacking functional FAAP24. J Clin Immunol 36(7):684\u2013692","journal-title":"J Clin Immunol"},{"key":"8881_CR134","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.clim.2017.08.007","volume":"183","author":"CD Platt","year":"2017","unstructured":"Platt CD, Fried AJ, Hoyos-Bachiloglu R, Usmani GN, Schmidt B, Whangbo J et al (2017) Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. Clin Immunol 183:142\u2013144","journal-title":"Clin Immunol"},{"issue":"12","key":"8881_CR135","doi-asserted-by":"publisher","first-page":"1352","DOI":"10.1038\/ni.3575","volume":"17","author":"E Salzer","year":"2016","unstructured":"Salzer E, Cagdas D, Hons M, Mace EM, Garncarz W, Petronczki OY et al (2016) RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics. Nat Immunol 17(12):1352\u20131360","journal-title":"Nat Immunol"},{"issue":"2","key":"8881_CR136","doi-asserted-by":"publisher","first-page":"188","DOI":"10.15252\/emmm.201708292","volume":"10","author":"S Winter","year":"2018","unstructured":"Winter S, Martin E, Boutboul D, Lenoir C, Boudjemaa S, Petit A et al (2018) Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility. EMBO Mol Med 10(2):188\u2013199","journal-title":"EMBO Mol Med"},{"key":"8881_CR137","doi-asserted-by":"crossref","unstructured":"Mao H, Yang W, Latour S, Yang J, Winter S, Zheng J et al (2018) RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. J Allergy Clin Immunol 142(2):595\u2013604 e16","DOI":"10.1016\/j.jaci.2017.10.026"},{"issue":"6","key":"8881_CR138","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1007\/s10875-018-0533-8","volume":"38","author":"I Somekh","year":"2018","unstructured":"Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M et al (2018) Novel mutations in RASGRP1 are associated with immunodeficiency, immune dysregulation, and EBV-induced lymphoma. J Clin Immunol 38(6):699\u2013710","journal-title":"J Clin Immunol"},{"key":"8881_CR139","doi-asserted-by":"publisher","first-page":"14209","DOI":"10.1038\/ncomms14209","volume":"8","author":"T Schober","year":"2017","unstructured":"Schober T, Magg T, Laschinger M, Rohlfs M, Linhares ND, Puchalka J et al (2017) A human immunodeficiency syndrome caused by mutations in CARMIL2. Nat Commun 8:14209","journal-title":"Nat Commun"},{"key":"8881_CR140","doi-asserted-by":"crossref","unstructured":"Maccari ME, Speckmann C, Heeg M, Reimer A, Casetti F, Has C et al (2019) Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations. Clin Immunol 208:108228","DOI":"10.1016\/j.clim.2019.06.004"},{"issue":"11","key":"8881_CR141","doi-asserted-by":"publisher","first-page":"2413","DOI":"10.1084\/jem.20160576","volume":"213","author":"Y Wang","year":"2016","unstructured":"Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S et al (2016) Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations. J Exp Med 213(11):2413\u20132435","journal-title":"J Exp Med"},{"issue":"6","key":"8881_CR142","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1002\/mgg3.237","volume":"4","author":"HS Sorte","year":"2016","unstructured":"Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH et al (2016) A potential founder variant in CARMIL2\/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. Mol Genet Genomic Med 4(6):604\u2013616","journal-title":"Mol Genet Genomic Med"},{"key":"8881_CR143","doi-asserted-by":"publisher","first-page":"203","DOI":"10.3389\/fimmu.2018.00203","volume":"9","author":"AM Alazami","year":"2018","unstructured":"Alazami AM, Al-Helale M, Alhissi S, Al-Saud B, Alajlan H, Monies D et al (2018) Novel CARMIL2 mutations in patients with variable clinical dermatitis, infections, and combined immunodeficiency. Front Immunol 9:203","journal-title":"Front Immunol"},{"issue":"4","key":"8881_CR144","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1007\/s10875-019-00631-6","volume":"39","author":"A Kurolap","year":"2019","unstructured":"Kurolap A, Eshach Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M et al (2019) A unique presentation of infantile-onset colitis and eosinophilic disease without recurrent infections resulting from a novel homozygous CARMIL2 variant. J Clin Immunol 39(4):430\u2013439","journal-title":"J Clin Immunol"},{"issue":"3","key":"8881_CR145","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1007\/s10875-019-00628-1","volume":"39","author":"F Atschekzei","year":"2019","unstructured":"Atschekzei F, Jacobs R, Wetzke M, Sogkas G, Schroder C, Ahrenstorf G et al (2019) A novel CARMIL2 mutation resulting in combined immunodeficiency manifesting with dermatitis, fungal, and viral skin infections as well as selective antibody deficiency. J Clin Immunol 39(3):274\u2013276","journal-title":"J Clin Immunol"},{"issue":"11","key":"8881_CR146","doi-asserted-by":"publisher","first-page":"1788","DOI":"10.1093\/ibd\/izz103","volume":"25","author":"T Magg","year":"2019","unstructured":"Magg T, Shcherbina A, Arslan D, Desai MM, Wall S, Mitsialis V et al (2019) CARMIL2 deficiency presenting as very early onset inflammatory bowel disease. Inflamm Bowel Dis 25(11):1788\u20131795","journal-title":"Inflamm Bowel Dis"},{"key":"8881_CR147","doi-asserted-by":"publisher","first-page":"884","DOI":"10.3389\/fimmu.2020.00884","volume":"11","author":"JR Yonkof","year":"2020","unstructured":"Yonkof JR, Gupta A, Rueda CM, Mangray S, Prince BT, Rangarajan HG et al (2020) A novel pathogenic variant in CARMIL2 (RLTPR) causing CARMIL2 deficiency and EBV-associated smooth muscle tumors. Front Immunol 11:884","journal-title":"Front Immunol"},{"issue":"9","key":"8881_CR148","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1182\/blood.2020005844","volume":"136","author":"J Stremenova Spegarova","year":"2020","unstructured":"Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J et al (2020) Germline TET2 loss of function causes childhood immunodeficiency and lymphoma. Blood 136(9):1055\u20131066","journal-title":"Blood"},{"key":"8881_CR149","doi-asserted-by":"crossref","unstructured":"Bravo Garcia-Morato M, Calvo Apalategi A, Bravo-Gallego LY, Blazquez Moreno A, Simon-Fuentes M, Garmendia JV et al (2019)\u00a0Impaired control of multiple viral infections in a family with complete IRF9 deficiency. J Allergy Clin Immunol 144(1):309\u201312 e10","DOI":"10.1016\/j.jaci.2019.02.019"},{"issue":"10","key":"8881_CR150","doi-asserted-by":"publisher","first-page":"2567","DOI":"10.1084\/jem.20180628","volume":"215","author":"N Hernandez","year":"2018","unstructured":"Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J et al (2018) Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency. J Exp Med 215(10):2567\u20132585","journal-title":"J Exp Med"},{"issue":"9","key":"8881_CR151","doi-asserted-by":"publisher","first-page":"2057","DOI":"10.1084\/jem.20182295","volume":"216","author":"N Hernandez","year":"2019","unstructured":"Hernandez N, Bucciol G, Moens L, Le Pen J, Shahrooei M, Goudouris E et al (2019) Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines. J Exp Med 216(9):2057\u20132070","journal-title":"J Exp Med"},{"key":"8881_CR152","doi-asserted-by":"crossref","unstructured":"Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC et al (2015) Human IFNAR2 deficiency: lessons for antiviral immunity. Sci Transl Med\u00a07(307):307ra154","DOI":"10.1126\/scitranslmed.aac4227"},{"key":"8881_CR153","doi-asserted-by":"publisher","first-page":"937","DOI":"10.3389\/fgene.2020.00937","volume":"11","author":"C Passarelli","year":"2020","unstructured":"Passarelli C, Civino A, Rossi MN, Cifaldi L, Lanari V, Moneta GM et al (2020) IFNAR2 deficiency causing dysregulation of NK cell functions and presenting with hemophagocytic lymphohistiocytosis. Front Genet 11:937","journal-title":"Front Genet"},{"issue":"9","key":"8881_CR154","doi-asserted-by":"publisher","first-page":"3543","DOI":"10.1172\/JCI92280","volume":"127","author":"B Ogunjimi","year":"2017","unstructured":"Ogunjimi B, Zhang SY, Sorensen KB, Skipper KA, Carter-Timofte M, Kerner G et al (2017) Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections. J Clin Invest 127(9):3543\u20133556","journal-title":"J Clin Invest"},{"issue":"12","key":"8881_CR155","doi-asserted-by":"publisher","first-page":"1873","DOI":"10.1038\/s41591-019-0672-3","volume":"25","author":"FG Lafaille","year":"2019","unstructured":"Lafaille FG, Harschnitz O, Lee YS, Zhang P, Hasek ML, Kerner G et al (2019) Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis. Nat Med 25(12):1873\u20131884","journal-title":"Nat Med"},{"key":"8881_CR156","doi-asserted-by":"crossref","unstructured":"Hait AS, Olagnier D, Sancho-Shimizu V, Skipper KA, Helleberg M, Larsen SM et al (2020) Defects in LC3B2 and ATG4A underlie HSV2 meningitis and reveal a critical role for autophagy in antiviral defense in humans. Sci Immunol\u00a05(54):eabc2691","DOI":"10.1126\/sciimmunol.abc2691"},{"key":"8881_CR157","doi-asserted-by":"publisher","first-page":"3108","DOI":"10.3389\/fimmu.2018.03108","volume":"9","author":"A Witalisz-Siepracka","year":"2018","unstructured":"Witalisz-Siepracka A, Klein K, Prinz D, Leidenfrost N, Schabbauer G, Dohnal A et al (2018) Loss of JAK1 drives innate immune deficiency. Front Immunol 9:3108","journal-title":"Front Immunol"},{"key":"8881_CR158","doi-asserted-by":"publisher","first-page":"2065","DOI":"10.3389\/fimmu.2019.02065","volume":"10","author":"V Daza-Cajigal","year":"2019","unstructured":"Daza-Cajigal V, Albuquerque AS, Pearson J, Hinley J, Mason AS, Stahlschmidt J et al (2019) Loss of Janus associated kinase 1 alters urothelial cell function and facilitates the development of bladder cancer. Front Immunol 10:2065","journal-title":"Front Immunol"},{"key":"8881_CR159","doi-asserted-by":"publisher","first-page":"13992","DOI":"10.1038\/ncomms13992","volume":"7","author":"D Eletto","year":"2016","unstructured":"Eletto D, Burns SO, Angulo I, Plagnol V, Gilmour KC, Henriquez F et al (2016) Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection. Nat Commun 7:13992","journal-title":"Nat Commun"},{"issue":"9","key":"8881_CR160","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1038\/s41590-018-0178-z","volume":"19","author":"XF Kong","year":"2018","unstructured":"Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK et al (2018) Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency. Nat Immunol 19(9):973\u2013985","journal-title":"Nat Immunol"},{"key":"8881_CR161","doi-asserted-by":"crossref","unstructured":"Israel L, Wang Y, Bulek K, Della Mina E, Zhang Z, Pedergnana V et al (2017) Human adaptive immunity rescues an inborn error of innate immunity. Cell 168(5):789\u2013800 e10","DOI":"10.1016\/j.cell.2017.01.039"},{"issue":"2","key":"8881_CR162","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1016\/j.jaci.2018.07.013","volume":"143","author":"G Bucciol","year":"2019","unstructured":"Bucciol G, Moens L, Bosch B, Bossuyt X, Casanova JL, Puel A et al (2019) Lessons learned from the study of human inborn errors of innate immunity. J Allergy Clin Immunol 143(2):507\u2013527","journal-title":"J Allergy Clin Immunol"}],"container-title":["Clinical Reviews in Allergy &amp; Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12016-021-08881-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12016-021-08881-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12016-021-08881-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T10:56:14Z","timestamp":1744196174000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12016-021-08881-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,12]]},"references-count":162,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,8]]}},"alternative-id":["8881"],"URL":"https:\/\/doi.org\/10.1007\/s12016-021-08881-2","relation":{},"ISSN":["1559-0267"],"issn-type":[{"value":"1559-0267","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,12]]},"assertion":[{"value":"24 July 2021","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 January 2022","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This is a review study and contains information previously published on the topic.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Appropriate use of references is completed throughout the manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}