{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T06:09:11Z","timestamp":1788588551180,"version":"build-2803163510"},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T00:00:00Z","timestamp":1673395200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T00:00:00Z","timestamp":1673395200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["5R01AI089970"],"award-info":[{"award-number":["5R01AI089970"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["5R37AI095983"],"award-info":[{"award-number":["5R37AI095983"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Center for Research Resources and the National Center for Advancing Sciences of the National Institutes of Health","award":["5R01AI089970"],"award-info":[{"award-number":["5R01AI089970"]}]},{"DOI":"10.13039\/100000093","name":"Center for Information Technology","doi-asserted-by":"publisher","award":["U19AI142737"],"award-info":[{"award-number":["U19AI142737"]}],"id":[{"id":"10.13039\/100000093","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence and the French National Research Agency","award":["ANR-10-IAHU-01"],"award-info":[{"award-number":["ANR-10-IAHU-01"]}]},{"name":"Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence and the French National Research Agency","award":["ECTZ170784-ANRS0073"],"award-info":[{"award-number":["ECTZ170784-ANRS0073"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1007\/s10875-022-01419-x","type":"journal-article","created":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T03:02:47Z","timestamp":1673406167000},"page":"728-740","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds"],"prefix":"10.1007","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2916-5007","authenticated-orcid":false,"given":"Abderrahmane","family":"Errami","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamila El","family":"Baghdadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Ailal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibtihal","family":"Benhsaien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jalila El","family":"Bakkouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Jeddane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noureddine","family":"Rada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noufissa","family":"Benajiba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaoula","family":"Mokhantar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaoutar","family":"Ouazahrou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanae","family":"Zaidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Abel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Boisson-Dupuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinta","family":"Bustamante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed Aziz","family":"Bousfiha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,1,11]]},"reference":[{"key":"1419_CR1","doi-asserted-by":"publisher","unstructured":"Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022;42(7):1508\u20131520. https:\/\/doi.org\/10.1007\/s10875-022-01352-z.","DOI":"10.1007\/s10875-022-01352-z"},{"key":"1419_CR2","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1146\/annurev.immunol.20.081501.125851","volume":"20","author":"JL Casanova","year":"2002","unstructured":"Casanova JL, Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol. 2002;20:581\u2013620.","journal-title":"Annu Rev Immunol"},{"issue":"6","key":"1419_CR3","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/j.smim.2014.09.008","volume":"26","author":"J Bustamante","year":"2014","unstructured":"Bustamante J, et al. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-gamma immunity. Semin Immunol. 2014;26(6):454\u201370.","journal-title":"Semin Immunol"},{"issue":"6\u20137","key":"1419_CR4","doi-asserted-by":"publisher","first-page":"993","DOI":"10.1007\/s00439-020-02120-y","volume":"139","author":"J Bustamante","year":"2020","unstructured":"Bustamante J. Mendelian susceptibility to mycobacterial disease: recent discoveries. Hum Genet. 2020;139(6\u20137):993\u20131000.","journal-title":"Hum Genet"},{"issue":"1","key":"1419_CR5","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1111\/imr.12272","volume":"264","author":"S Boisson-Dupuis","year":"2015","unstructured":"Boisson-Dupuis S, et al. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev. 2015;264(1):103\u201320.","journal-title":"Immunol Rev"},{"issue":"4","key":"1419_CR6","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1111\/imcb.12210","volume":"97","author":"J Rosain","year":"2019","unstructured":"Rosain J, et al. Mendelian susceptibility to mycobacterial disease: 2014\u20132018 update. Immunol Cell Biol. 2019;97(4):360\u20137.","journal-title":"Immunol Cell Biol"},{"key":"1419_CR7","doi-asserted-by":"publisher","unstructured":"Le Voyer T, Neehus AL, Yang R, Ogishi M, Rosain J, Alroqi F, et al. Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease. Proc Natl Acad Sci USA. 2021;118(15). https:\/\/doi.org\/10.1073\/pnas.2102804118.","DOI":"10.1073\/pnas.2102804118"},{"issue":"7","key":"1419_CR8","doi-asserted-by":"publisher","first-page":"1826","DOI":"10.1016\/j.cell.2020.10.046","volume":"183","author":"R Yang","year":"2020","unstructured":"Yang R, et al. Human T-bet governs innate and innate-like adaptive IFN-gamma immunity against mycobacteria. Cell. 2020;183(7):1826\u20131847 e31.","journal-title":"Cell"},{"key":"1419_CR9","doi-asserted-by":"publisher","unstructured":"Noma K, Mizoguchi Y, Tsumura M, Okada S. Mendelian susceptibility to mycobacterial diseases: state of the art. Clin Microbiol Infect. 2022;28(11):1429\u20131434. https:\/\/doi.org\/10.1016\/j.cmi.2022.03.004.","DOI":"10.1016\/j.cmi.2022.03.004"},{"key":"1419_CR10","doi-asserted-by":"crossref","unstructured":"Martin-Fernandez M, et al. A partial form of inherited human USP18 deficiency underlies infection and inflammation. J Exp Med.\u00a02022;219(4).","DOI":"10.1084\/jem.20211273"},{"key":"1419_CR11","doi-asserted-by":"publisher","unstructured":"Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, et al. Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities. Clin Genet. 2022;101(2):247\u2013254.\u00a0https:\/\/doi.org\/10.1111\/cge.14081.","DOI":"10.1111\/cge.14081"},{"key":"1419_CR12","doi-asserted-by":"publisher","unstructured":"Ogishi M, Arias AA, Yang R, Han JE, Zhang P, Rinchai D, et al. Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency. J Exp Med. 2022;219(10). https:\/\/doi.org\/10.1084\/jem.20220094","DOI":"10.1084\/jem.20220094"},{"issue":"6\u20137","key":"1419_CR13","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1007\/s00439-020-02126-6","volume":"139","author":"S Boisson-Dupuis","year":"2020","unstructured":"Boisson-Dupuis S. The monogenic basis of human tuberculosis. Hum Genet. 2020;139(6\u20137):1001\u20139.","journal-title":"Hum Genet"},{"key":"1419_CR14","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1034\/j.1600-065X.2000.17810.x","volume":"178","author":"S Dupuis","year":"2000","unstructured":"Dupuis S, et al. Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion. Immunol Rev. 2000;178:129\u201337.","journal-title":"Immunol Rev"},{"issue":"6","key":"1419_CR15","doi-asserted-by":"publisher","first-page":"3158","DOI":"10.1172\/JCI135460","volume":"130","author":"G Kerner","year":"2020","unstructured":"Kerner G, et al. Inherited human IFN-gamma deficiency underlies mycobacterial disease. J Clin Invest. 2020;130(6):3158\u201371.","journal-title":"J Clin Invest"},{"issue":"6","key":"1419_CR16","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1097\/MD.0b013e3181fdd832","volume":"89","author":"L de Beaucoudrey","year":"2010","unstructured":"de Beaucoudrey L, et al. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Med (Baltimore). 2010;89(6):381\u2013402.","journal-title":"Med (Baltimore)"},{"key":"1419_CR17","unstructured":"Ministry of health-morocco. Programme National d\u2019Immunisation. 2013; Available from: https:\/\/www.sante.gov.ma\/Documents\/Manuel_PNI_29Juin2013_VersionImprime_SIPAMA.pdf. Accessed 15 Nov 2022."},{"key":"1419_CR18","unstructured":"European Society for Immunodeficiencies (ESID), Diagnostic criteria for BCG disseminated infections in primary immunodeficiencies. https:\/\/esid.org\/content\/download\/12914\/369208\/file\/BCG.doc. Accessed 26 July 2022."},{"issue":"4","key":"1419_CR19","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1086\/499953","volume":"42","author":"AC Hesseling","year":"2006","unstructured":"Hesseling AC, et al. Bacille Calmette-Gu\u00e9rin vaccine\u2014induced disease in HIV-infected and HIV-uninfected children. Clin Infect Dis. 2006;42(4):548\u201358.","journal-title":"Clin Infect Dis"},{"issue":"7","key":"1419_CR20","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1016\/j.arcped.2016.04.003","volume":"23","author":"M Kourime","year":"2016","unstructured":"Kourime M, et al. B\u00e9c\u00e9gites de l\u2019enfant\u202f: diagnostic, classification et exploration. Arch Pediatr. 2016;23(7):754\u20139.","journal-title":"Arch Pediatr"},{"issue":"2","key":"1419_CR21","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1093\/cid\/cit722","volume":"58","author":"M Ouederni","year":"2014","unstructured":"Ouederni M, et al. Clinical features of Candidiasis in patients with inherited interleukin 12 receptor beta1 deficiency. Clin Infect Dis. 2014;58(2):204\u201313.","journal-title":"Clin Infect Dis"},{"issue":"11","key":"1419_CR22","doi-asserted-by":"publisher","first-page":"2307","DOI":"10.1084\/jem.20101597","volume":"207","author":"M Byun","year":"2010","unstructured":"Byun M, et al. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med. 2010;207(11):2307\u201312.","journal-title":"J Exp Med"},{"issue":"6102","key":"1419_CR23","doi-asserted-by":"publisher","first-page":"1684","DOI":"10.1126\/science.1224026","volume":"337","author":"D Bogunovic","year":"2012","unstructured":"Bogunovic D, et al. Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency. Sci. 2012;337(6102):1684\u20138.","journal-title":"Sci"},{"issue":"11","key":"1419_CR24","doi-asserted-by":"publisher","first-page":"3276","DOI":"10.1002\/eji.200425221","volume":"34","author":"J Feinberg","year":"2004","unstructured":"Feinberg J, et al. Bacillus Calmette Guerin triggers the IL-12\/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes. Eur J Immunol. 2004;34(11):3276\u201384.","journal-title":"Eur J Immunol"},{"key":"1419_CR25","doi-asserted-by":"publisher","unstructured":"Martinez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramirez-Alejo N, Mele F, et al. Human IFN-gamma immunity to mycobacteria is governed by both IL-12 and IL-23. Sci Immun.\u00a02018;3(30). https:\/\/doi.org\/10.1126\/sciimmunol.aau6759.","DOI":"10.1126\/sciimmunol.aau6759"},{"key":"1419_CR26","doi-asserted-by":"publisher","unstructured":"Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, et al. Tuberculosis and impaired IL-23-dependent IFN-gamma immunity in humans homozygous for a common TYK2 missense variant. Sci Immun. 2018;3(30). https:\/\/doi.org\/10.1126\/sciimmunol.aau8714.","DOI":"10.1126\/sciimmunol.aau8714"},{"key":"1419_CR27","doi-asserted-by":"publisher","unstructured":"Yang R, Weisshaar M, Mele F, Benhsaien I, Dorgham K, Han J, et al. High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency. J. Exp Med. 2021;218(8). https:\/\/doi.org\/10.1084\/jem.20202726.","DOI":"10.1084\/jem.20202726"},{"issue":"9","key":"1419_CR28","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1038\/s41590-018-0178-z","volume":"19","author":"XF Kong","year":"2018","unstructured":"Kong XF, et al. Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency. Nat Immunol. 2018;19(9):973\u201385.","journal-title":"Nat Immunol"},{"issue":"1","key":"1419_CR29","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1016\/j.jaci.2016.09.035","volume":"140","author":"R Kagawa","year":"2017","unstructured":"Kagawa R, et al. Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants. J Allergy Clin Immunol. 2017;140(1):232\u201341.","journal-title":"J Allergy Clin Immunol"},{"issue":"6","key":"1419_CR30","doi-asserted-by":"publisher","first-page":"2215","DOI":"10.1016\/j.jaci.2018.10.068","volume":"143","author":"S Humblet-Baron","year":"2019","unstructured":"Humblet-Baron S, et al. IFN-gamma and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis. J Allergy Clin Immunol. 2019;143(6):2215-2226 e7.","journal-title":"J Allergy Clin Immunol"},{"issue":"10","key":"1419_CR31","doi-asserted-by":"publisher","first-page":"1641","DOI":"10.1084\/jem.20140280","volume":"212","author":"AY Kreins","year":"2015","unstructured":"Kreins AY, et al. Human TYK2 deficiency: mycobacterial and viral infections without hyper-IgE syndrome. J Exp Med. 2015;212(10):1641\u201362.","journal-title":"J Exp Med"},{"issue":"1","key":"1419_CR32","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10875-016-0354-6","volume":"37","author":"L Jeddane","year":"2017","unstructured":"Jeddane L, et al. Primary immunodeficiency classification on smartphone. J Clin Immunol. 2017;37(1):1\u20132.","journal-title":"J Clin Immunol"},{"key":"1419_CR33","doi-asserted-by":"publisher","first-page":"678","DOI":"10.3389\/fimmu.2017.00678","volume":"8","author":"H Al-Mousa","year":"2017","unstructured":"Al-Mousa H, Al-Saud B. Primary immunodeficiency diseases in highly consanguineous populations from Middle East and North Africa: epidemiology, diagnosis, and care. Front Immunol. 2017;8:678.","journal-title":"Front Immunol"},{"issue":"2","key":"1419_CR34","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.gene.2016.07.007","volume":"592","author":"H Zayed","year":"2016","unstructured":"Zayed H. The Arab genome: Health and wealth. Gene. 2016;592(2):239\u201343.","journal-title":"Gene"},{"issue":"5","key":"1419_CR35","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1007\/s10875-018-0527-6","volume":"38","author":"J Rosain","year":"2018","unstructured":"Rosain J, et al. A Variety of Alu-mediated copy number variations can underlie IL-12Rbeta1 deficiency. J Clin Immunol. 2018;38(5):617\u201327.","journal-title":"J Clin Immunol"},{"issue":"5368","key":"1419_CR36","doi-asserted-by":"publisher","first-page":"1432","DOI":"10.1126\/science.280.5368.1432","volume":"280","author":"F Altare","year":"1998","unstructured":"Altare F, et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Sci. 1998;280(5368):1432\u20135.","journal-title":"Sci"},{"issue":"3","key":"1419_CR37","doi-asserted-by":"publisher","first-page":"331","DOI":"10.24953\/turkjped.2016.03.019","volume":"58","author":"B Gokturk","year":"2016","unstructured":"Gokturk B, et al. Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene. Turk J Pediatr. 2016;58(3):331\u20136.","journal-title":"Turk J Pediatr"},{"issue":"4","key":"1419_CR38","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1007\/s10875-019-00637-0","volume":"39","author":"AK Jindal","year":"2019","unstructured":"Jindal AK, et al. Recurrent Salmonella typhi infection and autoimmunity in a young boy with complete IL-12 receptor beta1 deficiency. J Clin Immunol. 2019;39(4):358\u201362.","journal-title":"J Clin Immunol"},{"issue":"3","key":"1419_CR39","doi-asserted-by":"publisher","first-page":"143","DOI":"10.3109\/08916934.2015.1134513","volume":"49","author":"G Ling","year":"2016","unstructured":"Ling G, et al. IL-12 receptor 1beta deficiency with features of autoimmunity and photosensitivity. Autoimmun. 2016;49(3):143\u20136.","journal-title":"Autoimmun"},{"issue":"5","key":"1419_CR40","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1016\/j.immuni.2006.09.009","volume":"25","author":"Y Minegishi","year":"2006","unstructured":"Minegishi Y, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immun. 2006;25(5):745\u201355.","journal-title":"Immun"},{"issue":"5","key":"1419_CR41","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1038\/icb.2012.9","volume":"90","author":"NA de Weerd","year":"2012","unstructured":"de Weerd NA, Nguyen T. The interferons and their receptors\u2013distribution and regulation. Immunol Cell Biol. 2012;90(5):483\u201391.","journal-title":"Immunol Cell Biol"},{"issue":"4","key":"1419_CR42","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1016\/j.coi.2012.04.011","volume":"24","author":"S Boisson-Dupuis","year":"2012","unstructured":"Boisson-Dupuis S, et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol. 2012;24(4):364\u201378.","journal-title":"Curr Opin Immunol"},{"issue":"3","key":"1419_CR43","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1038\/ng1097","volume":"33","author":"S Dupuis","year":"2003","unstructured":"Dupuis S, et al. Impaired response to interferon-alpha\/beta and lethal viral disease in human STAT1 deficiency. Nat Genet. 2003;33(3):388\u201391.","journal-title":"Nat Genet"},{"issue":"7","key":"1419_CR44","doi-asserted-by":"publisher","first-page":"1806","DOI":"10.1182\/blood-2011-01-330571","volume":"118","author":"D Vairo","year":"2011","unstructured":"Vairo D, et al. Severe impairment of IFN-gamma and IFN-alpha responses in cells of a patient with a novel STAT1 splicing mutation. Blood. 2011;118(7):1806\u201317.","journal-title":"Blood"},{"issue":"5528","key":"1419_CR45","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1126\/science.1061154","volume":"293","author":"S Dupuis","year":"2001","unstructured":"Dupuis S, et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Sci. 2001;293(5528):300\u20133.","journal-title":"Sci"},{"issue":"9451","key":"1419_CR46","doi-asserted-by":"publisher","first-page":"2113","DOI":"10.1016\/S0140-6736(04)17552-1","volume":"364","author":"SE Dorman","year":"2004","unstructured":"Dorman SE, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet. 2004;364(9451):2113\u201321.","journal-title":"Lancet"},{"key":"1419_CR47","doi-asserted-by":"publisher","unstructured":"El Baghdadi J, El Azbaoui S, Ailal F, Akhaddar A, Sabri A, Kong X-F, et al. Human Genetics of Tuberculosis of the Nervous System. In: Turgut M, Akhaddar A, Turgut AT, Garg RK, editors. Tuberculosis of the Central Nervous System: Pathogenesis, Imaging, and Management. Cham: Springer Int Publ.\u00a02017;11\u201322. https:\/\/doi.org\/10.1007\/978-3-319-50712-5_2.","DOI":"10.1007\/978-3-319-50712-5_2"},{"issue":"10","key":"1419_CR48","doi-asserted-by":"publisher","first-page":"1641","DOI":"10.3324\/haematol.2013.083741","volume":"98","author":"O Hirata","year":"2013","unstructured":"Hirata O, et al. Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis. Haematol. 2013;98(10):1641\u20139.","journal-title":"Haematol"},{"issue":"6","key":"1419_CR49","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1016\/j.jpeds.2004.08.021","volume":"145","author":"J Roesler","year":"2004","unstructured":"Roesler J, et al. Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey. J Pediatr. 2004;145(6):806\u201312.","journal-title":"J Pediatr"},{"issue":"1","key":"1419_CR50","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1084\/jem.20121069","volume":"210","author":"J Schneppenheim","year":"2013","unstructured":"Schneppenheim J, et al. The intramembrane protease SPPL2a promotes B cell development and controls endosomal traffic by cleavage of the invariant chain. J Exp Med. 2013;210(1):41\u201358.","journal-title":"J Exp Med"},{"issue":"12","key":"1419_CR51","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1016\/j.arcped.2014.09.009","volume":"21","author":"F Ailal","year":"2014","unstructured":"Ailal F, et al. Purulent pericarditis and colonic infiltrating to Salmonella enteritidis complicated by acute intussusception in a case of IL-12Rbeta1 deficiency. Arch Pediatr. 2014;21(12):1348\u201352.","journal-title":"Arch Pediatr"},{"issue":"4","key":"1419_CR52","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0018524","volume":"6","author":"S Boisson-Dupuis","year":"2011","unstructured":"Boisson-Dupuis S, et al. IL-12Rbeta1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One. 2011;6(4): e18524.","journal-title":"PLoS One"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-022-01419-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-022-01419-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-022-01419-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T05:26:12Z","timestamp":1681709172000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-022-01419-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,11]]},"references-count":52,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["1419"],"URL":"https:\/\/doi.org\/10.1007\/s10875-022-01419-x","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-1962239\/v1","asserted-by":"object"}]},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,11]]},"assertion":[{"value":"14 August 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 December 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 January 2023","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 study was approved by the ethics committee of the Faculty of Medicine and Pharmacy Casablanca of Hassan II University.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Written informed consent was obtained from the guardians of the pediatric patients or directly from adult relatives and controls.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"The subject has given consent for findings based on his samples and history to be published.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}]}}