{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T17:35:40Z","timestamp":1789580140466,"version":"build-2803163510"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T00:00:00Z","timestamp":1643155200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T00:00:00Z","timestamp":1643155200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100004410","name":"T\u00fcrkiye Bilimsel ve Teknolojik Ara\u015ftirma Kurumu","doi-asserted-by":"publisher","award":["318S202"],"award-info":[{"award-number":["318S202"]}],"id":[{"id":"10.13039\/501100004410","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AI085090"],"award-info":[{"award-number":["R01AI085090"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AI128976"],"award-info":[{"award-number":["R01AI128976"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Jonas S\u00f6derquist"},{"DOI":"10.13039\/100007435","name":"\u00c5ke Wiberg Stiftelse","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007435","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["ID 360372040 \u2013 SFB 1335 P07"],"award-info":[{"award-number":["ID 360372040 \u2013 SFB 1335 P07"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1007\/s10875-021-01191-4","type":"journal-article","created":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T00:03:51Z","timestamp":1643155431000},"page":"634-652","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency"],"prefix":"10.1007","volume":"42","author":[{"given":"Asena Pinar","family":"Sefer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Abolhassani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Ober","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basak","family":"Kayaoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevgi","family":"Bilgic Eltan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Altan","family":"Kara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baran","family":"Erman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naz","family":"Surucu Yilmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cigdem","family":"Aydogmus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sezin","family":"Aydemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis-Marie","family":"Charbonnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burcu","family":"Kolukisa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gholamreza","family":"Azizi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samaneh","family":"Delavari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tooba","family":"Momen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simuzar","family":"Aliyeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Kendir Demirkol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saban","family":"Tekin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayca","family":"Kiykim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omer Faruk","family":"Baser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haluk","family":"Cokugras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayda","family":"Gursel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif","family":"Karakoc-Aydiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet","family":"Ozen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Krappmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talal A.","family":"Chatila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nima","family":"Rezaei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4730-9422","authenticated-orcid":false,"given":"Safa","family":"Baris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,26]]},"reference":[{"issue":"7","key":"1191_CR1","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1038\/nri2338","volume":"8","author":"M Thome","year":"2008","unstructured":"Thome M. Multifunctional roles for MALT1 in T-cell activation. Nat Rev Immunol. 2008;8(7):495\u2013500.","journal-title":"Nat Rev Immunol"},{"issue":"22","key":"1191_CR2","doi-asserted-by":"publisher","first-page":"19012","DOI":"10.1074\/jbc.M009984200","volume":"276","author":"PC Lucas","year":"2001","unstructured":"Lucas PC, Yonezumi M, Inohara N, McAllister-Lucas LM, Abazeed ME, Chen FF, et al. Bcl10 and MALT1, independent targets of chromosomal translocation in malt lymphoma, cooperate in a novel NF-kappa B signaling pathway. J Biol Chem. 2001;276(22):19012\u20139.","journal-title":"J Biol Chem"},{"key":"1191_CR3","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.3389\/fimmu.2018.02078","volume":"9","author":"HY Lu","year":"2018","unstructured":"Lu HY, Bauman BM, Arjunaraja S, Dorjbal B, Milner JD, Snow AL, et al. The CBM-opathies-a rapidly expanding spectrum of human inborn errors of immunity caused by mutations in the CARD11-BCL10-MALT1 complex. Front Immunol. 2018;9:2078.","journal-title":"Front Immunol"},{"issue":"5","key":"1191_CR4","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1038\/nri1352","volume":"4","author":"M Thome","year":"2004","unstructured":"Thome M. CARMA1, BCL-10 and MALT1 in lymphocyte development and activation. Nat Rev Immunol. 2004;4(5):348\u201359.","journal-title":"Nat Rev Immunol"},{"issue":"2","key":"1191_CR5","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1038\/s41577-018-0087-2","volume":"19","author":"J Ruland","year":"2019","unstructured":"Ruland J, Hartjes L. CARD-BCL-10-MALT1 signalling in protective and pathological immunity. Nat Rev Immunol. 2019;19(2):118\u201334.","journal-title":"Nat Rev Immunol"},{"key":"1191_CR6","doi-asserted-by":"crossref","unstructured":"Thome M, Charton JE, Pelzer C, Hailfinger S. Antigen receptor signaling to NF-kappaB via CARMA1, BCL10, and MALT1. Cold Spring Harb Perspect Biol. 2010;2(9):a003004.","DOI":"10.1101\/cshperspect.a003004"},{"issue":"1","key":"1191_CR7","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. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40(1):66\u201381.","journal-title":"J Clin Immunol"},{"issue":"3","key":"1191_CR8","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. The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS committee. J Clin Immunol. 2021;41(3):666\u201379.","journal-title":"J Clin Immunol"},{"issue":"1","key":"1191_CR9","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.jaci.2013.04.047","volume":"132","author":"HH Jabara","year":"2013","unstructured":"Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, et al. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013;132(1):151\u20138.","journal-title":"J Allergy Clin Immunol"},{"key":"1191_CR10","doi-asserted-by":"crossref","unstructured":"McKinnon ML, Rozmus J, Fung SY, Hirschfeld AF, Del Bel KL, Thomas L, et al. Combined immunodeficiency associated with homozygous MALT1 mutations. J Allergy Clin Immunol. 2014;133(5):1458\u201362, 62 e1\u20137.","DOI":"10.1016\/j.jaci.2013.10.045"},{"issue":"2","key":"1191_CR11","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1007\/s10875-014-0125-1","volume":"35","author":"D Punwani","year":"2015","unstructured":"Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, et al. Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation. J Clin Immunol. 2015;35(2):135\u201346.","journal-title":"J Clin Immunol"},{"issue":"4","key":"1191_CR12","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1007\/s10875-019-00629-0","volume":"39","author":"S Frizinsky","year":"2019","unstructured":"Frizinsky S, Rechavi E, Barel O, Najeeb RH, Greenberger S, Lee YN, et al. Novel MALT1 mutation linked to immunodeficiency, immune dysregulation, and an abnormal T cell receptor repertoire. J Clin Immunol. 2019;39(4):401\u201313.","journal-title":"J Clin Immunol"},{"issue":"1","key":"1191_CR13","first-page":"202","volume":"182","author":"H Wiegmann","year":"2020","unstructured":"Wiegmann H, Reunert J, Metze D, Marquardt T, Engel T, Kunde V, et al. Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton\/Omenn syndromes. Br J Dermatol. 2020;182(1):202\u20137.","journal-title":"Br J Dermatol"},{"key":"1191_CR14","doi-asserted-by":"crossref","unstructured":"Kutukculer N, Seeholzer T, O'Neill TJ, Grass C, Aykut A, Karaca NE, et al. Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant. J Allergy Clin Immunol. 2021;147(2):775\u20138 e8.","DOI":"10.1016\/j.jaci.2020.07.034"},{"issue":"3","key":"1191_CR15","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1097\/MPG.0000000000001262","volume":"64","author":"F Charbit-Henrion","year":"2017","unstructured":"Charbit-Henrion F, Jeverica AK, Begue B, Markelj G, Parlato M, Avcin SL, et al. Deficiency in mucosa-associated lymphoid tissue lymphoma translocation 1: a novel cause of IPEX-like syndrome. J Pediatr Gastroenterol Nutr. 2017;64(3):378\u201384.","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"1191_CR16","unstructured":"Shirmast P PK, Moeini shad T. Case report- MALT 1 mutation in a patient with severe combined immunologic Immunol Genet J 2020. 2020;3:47\u201352."},{"key":"1191_CR17","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.coi.2021.02.008","volume":"72","author":"HY Lu","year":"2021","unstructured":"Lu HY, Turvey SE. Human MALT1 deficiency and predisposition to infections. Curr Opin Immunol. 2021;72:1\u201312.","journal-title":"Curr Opin Immunol"},{"issue":"1","key":"1191_CR18","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1038\/s41436-018-0012-x","volume":"21","author":"H Abolhassani","year":"2019","unstructured":"Abolhassani H, Aghamohammadi A, Fang M, Rezaei N, Jiang C, Liu X, et al. Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. Genet Med. 2019;21(1):243\u201351.","journal-title":"Genet Med"},{"issue":"4","key":"1191_CR19","doi-asserted-by":"publisher","first-page":"1450","DOI":"10.1016\/j.jaci.2017.06.049","volume":"141","author":"H Abolhassani","year":"2018","unstructured":"Abolhassani H, Chou J, Bainter W, Platt CD, Tavassoli M, Momen T, et al. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2018;141(4):1450\u20138.","journal-title":"J Allergy Clin Immunol"},{"issue":"9","key":"1191_CR20","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1182\/blood.2019000929","volume":"135","author":"H Abolhassani","year":"2020","unstructured":"Abolhassani H, Hammarstrom L, Cunningham-Rundles C. Current genetic landscape in common variable immune deficiency. Blood. 2020;135(9):656\u201367.","journal-title":"Blood"},{"issue":"Suppl 1","key":"1191_CR21","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1007\/s10875-016-0260-y","volume":"36","author":"M Fang","year":"2016","unstructured":"Fang M, Abolhassani H, Lim CK, Zhang J, Hammarstrom L. Next generation sequencing data analysis in primary immunodeficiency disorders - future directions. J Clin Immunol. 2016;36(Suppl 1):68\u201375.","journal-title":"J Clin Immunol"},{"key":"1191_CR22","doi-asserted-by":"crossref","unstructured":"Kolukisa B, Baser D, Akcam B, Danielson J, Bilgic Eltan S, Haliloglu Y, et al. Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency. Allergy. 2021.","DOI":"10.1111\/all.15010"},{"issue":"7","key":"1191_CR23","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1007\/s10875-018-0556-1","volume":"38","author":"H Abolhassani","year":"2018","unstructured":"Abolhassani H, Kiaee F, Tavakol M, Chavoshzadeh Z, Mahdaviani SA, Momen T, et al. Fourth update on the Iranian National Registry of Primary Immunodeficiencies: integration of molecular diagnosis. J Clin Immunol. 2018;38(7):816\u201332.","journal-title":"J Clin Immunol"},{"key":"1191_CR24","unstructured":"Aghamohammadi A, Rezaei N, Yazdani R, Delavari S, Kutukculer N, Topyildiz E, et al. Consensus Middle East and North Africa Registry on inborn errors of immunity. J Clin Immunol. 2021."},{"issue":"1","key":"1191_CR25","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. Human Inborn errors of immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):24\u201364.","journal-title":"J Clin Immunol"},{"key":"1191_CR26","unstructured":"Thalhammer J, Kindle G, Nieters A, Rusch S, Seppanen MRJ, Fischer A, et al. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations. J Allergy Clin Immunol. 2021."},{"key":"1191_CR27","doi-asserted-by":"crossref","unstructured":"Kiykim A, Ogulur I, Dursun E, Charbonnier LM, Nain E, Cekic S, et al. Abatacept as a long-term targeted therapy for LRBA deficiency. J Allergy Clin Immunol Pract. 2019;7(8):2790\u2013800 e15.","DOI":"10.1016\/j.jaip.2019.06.011"},{"issue":"4","key":"1191_CR28","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1007\/s10875-019-00632-5","volume":"39","author":"A Eken","year":"2019","unstructured":"Eken A, Cansever M, Somekh I, Mizoguchi Y, Zietara N, Okus FZ, et al. Genetic deficiency and biochemical inhibition of ITK affect human Th17, Treg, and innate lymphoid cells. J Clin Immunol. 2019;39(4):391\u2013400.","journal-title":"J Clin Immunol"},{"issue":"7","key":"1191_CR29","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1007\/s10875-016-0312-3","volume":"36","author":"S Baris","year":"2016","unstructured":"Baris S, Alroqi F, Kiykim A, Karakoc-Aydiner E, Ogulur I, Ozen A, et al. Severe early-onset combined immunodeficiency due to heterozygous gain-of-function mutations in STAT1. J Clin Immunol. 2016;36(7):641\u20138.","journal-title":"J Clin Immunol"},{"key":"1191_CR30","doi-asserted-by":"crossref","unstructured":"Chen Y, Lu H, Zhang N, Zhu Z, Wang S, Li M. PremPS: predicting the impact of missense mutations on protein stability. PLoS Comput Biol. 2020;16(12):e1008543.","DOI":"10.1371\/journal.pcbi.1008543"},{"issue":"5","key":"1191_CR31","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1093\/bioinformatics\/bts005","volume":"28","author":"Z Zhang","year":"2012","unstructured":"Zhang Z, Wang L, Gao Y, Zhang J, Zhenirovskyy M, Alexov E. Predicting folding free energy changes upon single point mutations. Bioinformatics. 2012;28(5):664\u201371.","journal-title":"Bioinformatics"},{"key":"1191_CR32","doi-asserted-by":"crossref","unstructured":"Gehring T, Erdmann T, Rahm M, Grass C, Flatley A, O'Neill TJ, et al. MALT1 phosphorylation controls activation of T lymphocytes and survival of ABC-DLBCL tumor cells. Cell Rep. 2019;29(4):873\u201388 e10.","DOI":"10.1016\/j.celrep.2019.09.040"},{"issue":"1","key":"1191_CR33","doi-asserted-by":"publisher","first-page":"4480","DOI":"10.1038\/s41598-018-22531-2","volume":"8","author":"F Ancien","year":"2018","unstructured":"Ancien F, Pucci F, Godfroid M, Rooman M. Prediction and interpretation of deleterious coding variants in terms of protein structural stability. Sci Rep. 2018;8(1):4480.","journal-title":"Sci Rep"},{"issue":"1","key":"1191_CR34","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1007\/s00239-015-9717-5","volume":"82","author":"RL Redler","year":"2016","unstructured":"Redler RL, Das J, Diaz JR, Dokholyan NV. Protein Destabilization as a common factor in diverse inherited disorders. J Mol Evol. 2016;82(1):11\u20136.","journal-title":"J Mol Evol"},{"issue":"7","key":"1191_CR35","doi-asserted-by":"publisher","first-page":"1214","DOI":"10.1038\/cdd.2015.104","volume":"24","author":"A Brustle","year":"2017","unstructured":"Brustle A, Brenner D, Knobbe-Thomsen CB, Cox M, Lang PA, Lang KS, et al. MALT1 is an intrinsic regulator of regulatory T cells. Cell Death Differ. 2017;24(7):1214\u201323.","journal-title":"Cell Death Differ"},{"issue":"8","key":"1191_CR36","doi-asserted-by":"publisher","first-page":"3723","DOI":"10.4049\/jimmunol.1402254","volume":"194","author":"F Bornancin","year":"2015","unstructured":"Bornancin F, Renner F, Touil R, Sic H, Kolb Y, Touil-Allaoui I, et al. Deficiency of MALT1 paracaspase activity results in unbalanced regulatory and effector T and B cell responses leading to multiorgan inflammation. J Immunol. 2015;194(8):3723\u201334.","journal-title":"J Immunol"},{"key":"1191_CR37","doi-asserted-by":"crossref","unstructured":"Guckel E, Frey S, Zaiss MM, Schett G, Ghosh S, Voll RE. Cell-intrinsic NF-kappaB activation is critical for the development of natural regulatory T cells in mice. PLoS One. 2011;6(5):e20003.","DOI":"10.1371\/journal.pone.0020003"},{"key":"1191_CR38","doi-asserted-by":"crossref","unstructured":"Oh H, Grinberg-Bleyer Y, Liao W, Maloney D, Wang P, Wu Z, et al. An NF-kappaB transcription-factor-dependent lineage-specific transcriptional program promotes regulatory T cell identity and function. Immunity. 2017;47(3):450\u201365 e5.","DOI":"10.1016\/j.immuni.2017.08.010"},{"key":"1191_CR39","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.clim.2016.04.011","volume":"168","author":"J Rozmus","year":"2016","unstructured":"Rozmus J, McDonald R, Fung SY, Del Bel KL, Roden J, Senger C, et al. Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation. Clin Immunol. 2016;168:1\u20135.","journal-title":"Clin Immunol"},{"issue":"5","key":"1191_CR40","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1016\/S1074-7613(03)00293-0","volume":"19","author":"J Ruland","year":"2003","unstructured":"Ruland J, Duncan GS, Wakeham A, Mak TW. Differential requirement for Malt1 in T and B cell antigen receptor signaling. Immunity. 2003;19(5):749\u201358.","journal-title":"Immunity"},{"issue":"6","key":"1191_CR41","doi-asserted-by":"publisher","first-page":"2421","DOI":"10.1182\/blood-2007-11-123513","volume":"112","author":"O Gross","year":"2008","unstructured":"Gross O, Grupp C, Steinberg C, Zimmermann S, Strasser D, Hannesschlager N, et al. Multiple ITAM-coupled NK-cell receptors engage the Bcl10\/Malt1 complex via Carma1 for NF-kappaB and MAPK activation to selectively control cytokine production. Blood. 2008;112(6):2421\u20138.","journal-title":"Blood"},{"key":"1191_CR42","doi-asserted-by":"crossref","unstructured":"Grinberg-Bleyer Y, Oh H, Desrichard A, Bhatt DM, Caron R, Chan TA, et al. NF-kappaB c-Rel is crucial for the regulatory T cell immune checkpoint in cancer. Cell. 2017;170(6):1096\u2013108 e13.","DOI":"10.1016\/j.cell.2017.08.004"},{"issue":"1","key":"1191_CR43","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1111\/imr.12033","volume":"252","author":"H Oh","year":"2013","unstructured":"Oh H, Ghosh S. NF-kappaB: roles and regulation in different CD4(+) T-cell subsets. Immunol Rev. 2013;252(1):41\u201351.","journal-title":"Immunol Rev"},{"key":"1191_CR44","doi-asserted-by":"publisher","first-page":"2330","DOI":"10.3389\/fimmu.2019.02330","volume":"10","author":"A Demeyer","year":"2019","unstructured":"Demeyer A, Van Nuffel E, Baudelet G, Driege Y, Kreike M, Muyllaert D, et al. MALT1-deficient mice develop atopic-like dermatitis upon aging. Front Immunol. 2019;10:2330.","journal-title":"Front Immunol"},{"key":"1191_CR45","doi-asserted-by":"crossref","unstructured":"Alroqi FJ, Charbonnier LM, Baris S, Kiykim A, Chou J, Platt CD, et al. Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. J Allergy Clin Immunol. 2018;141(3):1050\u20139 e10.","DOI":"10.1016\/j.jaci.2017.05.022"},{"key":"1191_CR46","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.clim.2018.10.005","volume":"197","author":"O Shamriz","year":"2018","unstructured":"Shamriz O, Patel K, Marsh RA, Bleesing J, Joshi AY, Lucas L, et al. Hypogammaglobulinemia with decreased class-switched B-cells and dysregulated T-follicular-helper cells in IPEX syndrome. Clin Immunol. 2018;197:219\u201323.","journal-title":"Clin Immunol"},{"key":"1191_CR47","doi-asserted-by":"crossref","unstructured":"Hamilton KS, Phong B, Corey C, Cheng J, Gorentla B, Zhong X, et al. T cell receptor-dependent activation of mTOR signaling in T cells is mediated by Carma1 and MALT1, but not Bcl10. Sci Signal. 2014;7(329):ra55.","DOI":"10.1126\/scisignal.2005169"},{"issue":"8","key":"1191_CR48","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. Germline hypomorphic CARD11 mutations in severe atopic disease. Nat Genet. 2017;49(8):1192\u2013201.","journal-title":"Nat Genet"},{"issue":"6","key":"1191_CR49","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1007\/s10875-018-0539-2","volume":"38","author":"E Corvilain","year":"2018","unstructured":"Corvilain E, Casanova JL, Puel A. Inherited CARD9 deficiency: invasive disease caused by ascomycete fungi in previously healthy children and adults. J Clin Immunol. 2018;38(6):656\u201393.","journal-title":"J Clin Immunol"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-021-01191-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-021-01191-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-021-01191-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T04:21:38Z","timestamp":1650428498000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-021-01191-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,26]]},"references-count":49,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["1191"],"URL":"https:\/\/doi.org\/10.1007\/s10875-021-01191-4","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,26]]},"assertion":[{"value":"22 August 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 December 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 January 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"Informed consent for participation was obtained from all individuals.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Informed publication consent was obtained from all participants.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}}]}}