{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T07:20:50Z","timestamp":1784100050778,"version":"3.55.0"},"reference-count":63,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2018,9,25]],"date-time":"2018-09-25T00:00:00Z","timestamp":1537833600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2018,9,25]],"date-time":"2018-09-25T00:00:00Z","timestamp":1537833600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"ANR-GENMSMD","award":["ANR-16-CE17-0005-01"],"award-info":[{"award-number":["ANR-16-CE17-0005-01"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["8UL1TR000043"],"award-info":[{"award-number":["8UL1TR000043"]}],"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":["5R01AI089970"],"award-info":[{"award-number":["5R01AI089970"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"German Academic Exchange Service (DAAD)."}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1007\/s10875-018-0548-1","type":"journal-article","created":{"date-parts":[[2018,9,25]],"date-time":"2018-09-25T10:39:59Z","timestamp":1537871999000},"page":"787-793","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12R\u03b21 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease"],"prefix":"10.1007","volume":"38","author":[{"given":"Nioosha","family":"Nekooie-Marnany","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Deswarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vajiheh","family":"Ostadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bahram","family":"Bagherpour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaheh","family":"Taleby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mazdak","family":"Ganjalikhani-Hakemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Le Voyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid","family":"Rahimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00e9mie","family":"Rosain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Pourmoghadas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saba","family":"Sheikhbahaei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Razieh","family":"Khoshnevisan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Petersheim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Kotlarz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Boisson-Dupuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinta","family":"Bustamante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roya","family":"Sherkat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,9,25]]},"reference":[{"issue":"31\u201332","key":"548_CR1","doi-asserted-by":"crossref","first-page":"445","DOI":"10.4414\/smw.2001.09763","volume":"131","author":"J-L Casanova","year":"2001","unstructured":"Casanova J-L. Mendelian susceptibility to mycobacterial infection in man. Swiss Med Wkly. 2001;131(31\u201332):445\u201354.","journal-title":"Swiss Med Wkly"},{"issue":"1","key":"548_CR2","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1146\/annurev.immunol.19.1.93","volume":"19","author":"JL Flynn","year":"2001","unstructured":"Flynn JL, Chan J. Immunology of tuberculosis. Annu Rev Immunol. 2001;19(1):93\u2013129.","journal-title":"Annu Rev Immunol"},{"issue":"11","key":"548_CR3","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 Gu\u00e9rin triggers the IL-12\/IFN-\u03b3 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"},{"issue":"12","key":"548_CR4","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1016\/j.jfma.2011.11.004","volume":"110","author":"W-I Lee","year":"2011","unstructured":"Lee W-I, et al. Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs). J Formos Med Assoc. 2011;110(12):750\u20138.","journal-title":"J Formos Med Assoc"},{"issue":"6","key":"548_CR5","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/j.smim.2014.09.008","volume":"26","author":"Jacinta Bustamante","year":"2014","unstructured":"Bustamante J, et al. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-\u03b3 immunity. Semin Immunol, 2014;26(6):454\u201370.","journal-title":"Seminars in Immunology"},{"issue":"1","key":"548_CR6","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1146\/annurev.immunol.20.081501.125851","volume":"20","author":"J-L Casanova","year":"2002","unstructured":"Casanova J-L, Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol. 2002;20(1):581\u2013620.","journal-title":"Annu Rev Immunol"},{"issue":"7","key":"548_CR7","doi-asserted-by":"publisher","first-page":"2095","DOI":"10.1182\/blood-2004-02-0584","volume":"104","author":"C Fieschi","year":"2004","unstructured":"Fieschi C, et al. A novel form of complete IL-12\/IL-23 receptor \u03b21 deficiency with cell surface-expressed nonfunctional receptors. Blood. 2004;104(7):2095\u2013101.","journal-title":"Blood"},{"issue":"2","key":"548_CR8","doi-asserted-by":"publisher","first-page":"e65","DOI":"10.1136\/jmg.2006.043406","volume":"44","author":"J. Bustamante","year":"2006","unstructured":"Bustamante J, et al. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. J Med Genet. 2007;44(2):e65\u20135.","journal-title":"Journal of Medical Genetics"},{"issue":"6","key":"548_CR9","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1097\/MD.0b013e3181fdd832","volume":"86","author":"L De Beaucoudrey","year":"2010","unstructured":"De Beaucoudrey L, et al. Revisiting human IL-12R\u03b21 deficiency: a survey of 141 patients from 30 countries. Medicine. 2010;86(6):381\u2013402.","journal-title":"Medicine"},{"issue":"12","key":"548_CR10","doi-asserted-by":"publisher","first-page":"3393","DOI":"10.1002\/eji.200324343","volume":"33","author":"MA Hoeve","year":"2003","unstructured":"Hoeve MA, et al. IL-12 receptor deficiency revisited: IL-23-mediated signaling is also impaired in human genetic IL-12 receptor \u03b21 deficiency. Eur J Immunol. 2003;33(12):3393\u20137.","journal-title":"Eur J Immunol"},{"key":"548_CR11","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1016\/S1074-7613(00)00070-4","volume":"13","author":"B Oppmann","year":"2000","unstructured":"Oppmann B, et al. Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12. Immunity. 2000;13:715\u201325.","journal-title":"Immunity"},{"issue":"11","key":"548_CR12","doi-asserted-by":"publisher","first-page":"5699","DOI":"10.4049\/jimmunol.168.11.5699","volume":"168","author":"C. Parham","year":"2002","unstructured":"Parham C, et al. A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R. J Immunol. 2002;168:5699\u2013708.","journal-title":"The Journal of Immunology"},{"issue":"9451","key":"548_CR13","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 \u03b3 receptor 1 deficiencies. Lancet. 2004;364(9451):2113\u201321.","journal-title":"Lancet"},{"issue":"6","key":"548_CR14","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1007\/s00251-017-1041-3","volume":"70","author":"MA Dizaj","year":"2018","unstructured":"Dizaj MA, et al. Susceptibility to mycobacterial disease due to mutations in IL-12R\u03b21 in three Iranian patients. Immunogenetics. 2018;70(6):373\u20139.","journal-title":"Immunogenetics"},{"issue":"4","key":"548_CR15","doi-asserted-by":"publisher","first-page":"e18524","DOI":"10.1371\/journal.pone.0018524","volume":"6","author":"S Boisson-Dupuis","year":"2011","unstructured":"Boisson-Dupuis S, et al. IL-12R\u03b21 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One. 2011;6(4):e18524.","journal-title":"PLoS One"},{"key":"548_CR16","first-page":"370","volume":"45","author":"SA Sarrafzadeh","year":"2016","unstructured":"Sarrafzadeh SA, et al. Case report Mendelian susceptibility to mycobacterial disease due to IL-12R\u03b21 deficiency in three Iranian children. Iran J Public Health. 2016;45:370\u20135.","journal-title":"Iran J Public Health"},{"issue":"6","key":"548_CR17","doi-asserted-by":"publisher","first-page":"e26362","DOI":"10.1002\/pbc.26362","volume":"64","author":"N Parvaneh","year":"2017","unstructured":"Parvaneh N, et al. Visceral leishmaniasis in two patients with IL-12p40 and IL-12R\u03b21 deficiencies. Pediatr Blood Cancer. 2017;64(6):e26362.","journal-title":"Pediatr Blood Cancer"},{"issue":"5","key":"548_CR18","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1007\/s10875-018-0527-6","volume":"38","author":"J\u00e9r\u00e9mie Rosain","year":"2018","unstructured":"Rosain J, et al. A variety of Alu-mediated copy number variations can underlie IL-12R\u03b21 deficiency. J Clin Immunol. 2018:38(5):617\u2013627.","journal-title":"Journal of Clinical Immunology"},{"issue":"4","key":"548_CR19","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1007\/s10875-011-9523-9","volume":"31","author":"P Tabarsi","year":"2011","unstructured":"Tabarsi P, et al. Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency. J Clin Immunol. 2011;31(4):537\u20139.","journal-title":"J Clin Immunol"},{"issue":"2","key":"548_CR20","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/j.cryobiol.2013.06.012","volume":"67","author":"A Germann","year":"2013","unstructured":"Germann A, et al. Temperature fluctuations during deep temperature cryopreservation reduce PBMC recovery, viability and T-cell function. Cryobiology. 2013;67(2):193\u2013200.","journal-title":"Cryobiology"},{"issue":"4","key":"548_CR21","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1084\/jem.20021769","volume":"197","author":"Claire Fieschi","year":"2003","unstructured":"Fieschi C, et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor \u2424 1 deficiency: medical and immunological implications. J Exp Med. 2003;197(4):527\u2013535.","journal-title":"The Journal of Experimental Medicine"},{"issue":"1","key":"548_CR22","doi-asserted-by":"publisher","first-page":"597","DOI":"10.4049\/jimmunol.170.1.597","volume":"170","author":"AM Cleary","year":"2003","unstructured":"Cleary AM, et al. Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor \u03b21 deficiency. J Immunol. 2003;170(1):597\u2013603.","journal-title":"J Immunol"},{"issue":"2","key":"548_CR23","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1007\/s00431-007-0430-2","volume":"167","author":"PP Lee","year":"2008","unstructured":"Lee PP, et al. Severe mycobacterial infections in two pairs of Chinese siblings with interleukin-12 receptor \u03b21 deficiency. Eur J Pediatr. 2008;167(2):231\u20132.","journal-title":"Eur J Pediatr"},{"key":"548_CR24","doi-asserted-by":"publisher","first-page":"e256","DOI":"10.1016\/j.ijid.2009.11.005","volume":"14","author":"S Pedraza-Sanchez","year":"2010","unstructured":"Pedraza-Sanchez S, et al. Bacille Calmette\u2013Gu\u00e9rin infection and disease with fatal outcome associated with a point mutation in the interleukin-12\/interleukin-23 receptor beta-1 chain in two Mexican families. Int J Infect Dis. 2010;14:e256\u201360.","journal-title":"Int J Infect Dis"},{"issue":"4","key":"548_CR25","doi-asserted-by":"publisher","first-page":"e971","DOI":"10.1542\/peds.2009-2504","volume":"126","author":"S. Pedraza","year":"2010","unstructured":"Pedraza S, et al. Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor \u03b21 deficiency. Pediatrics. 2010;126(4):e971\u20136.","journal-title":"PEDIATRICS"},{"key":"548_CR26","unstructured":"Zahid MF, et al. Recurrent salmonellosis in a child with complete IL-12R\u03b21 deficiency. J Immunodefic Disord. 2014;31."},{"issue":"5","key":"548_CR27","first-page":"328","volume":"93","author":"I Khamassi","year":"2015","unstructured":"Khamassi I, et al. Salmonella enteriditis inducing cutaneous leucocytoclasic vasculitis: an unusual complication in a patient with an interleukine-12 receptor beta-1 deficiency. Tunis Med. 2015;93(5):328\u20139.","journal-title":"Tunis Med"},{"issue":"2","key":"548_CR28","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1086\/375587","volume":"37","author":"I Caragol","year":"2003","unstructured":"Caragol I, et al. Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor \u03b21 deficiency. Clin Infect Dis. 2003;37(2):302\u20136.","journal-title":"Clin Infect Dis"},{"issue":"2","key":"548_CR29","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 \u03b21 deficiency. Clin Infect Dis. 2014;58(2):204\u201313.","journal-title":"Clin Infect Dis"},{"issue":"3","key":"548_CR30","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/S0300-2977(01)00152-8","volume":"59","author":"SM Arend","year":"2001","unstructured":"Arend SM, et al. Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-\u03b3 receptor. Neth J Med. 2001;59(3):140\u201351.","journal-title":"Neth J Med"},{"issue":"3","key":"548_CR31","doi-asserted-by":"publisher","first-page":"e23","DOI":"10.1086\/525855","volume":"46","author":"H Glosli","year":"2008","unstructured":"Glosli H, et al. Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-\u03b3 receptor deficiency. Clin Infect Dis. 2008;46(3):e23\u20137.","journal-title":"Clin Infect Dis"},{"issue":"2","key":"548_CR32","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1016\/j.jaci.2013.07.054","volume":"133","author":"DM Rose","year":"2014","unstructured":"Rose DM, et al. A novel mutation in IFN-[gamma] receptor 1 presenting as multisystem Mycobacterium intracellulare infection. J Allergy Clin Immunol. 2014;133(2):591\u20132.","journal-title":"J Allergy Clin Immunol"},{"issue":"5","key":"548_CR33","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1086\/339011","volume":"185","author":"Y Sasaki","year":"2002","unstructured":"Sasaki Y, et al. Genetic basis of patients with bacille Calmette-Guerin osteomyelitis in Japan: identification of dominant partial interferon-\u03b3 receptor 1 deficiency as a predominant type. J Infect Dis. 2002;185(5):706\u20139.","journal-title":"J Infect Dis"},{"issue":"10","key":"548_CR34","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. Haematologica. 2013;98(10):1641\u20139.","journal-title":"Haematologica"},{"issue":"9","key":"548_CR35","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1002\/humu.22113","volume":"33","author":"M Tsumura","year":"2012","unstructured":"Tsumura M, et al. Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease. Hum Mutat. 2012;33(9):1377\u201387.","journal-title":"Hum Mutat"},{"issue":"8","key":"548_CR36","doi-asserted-by":"publisher","first-page":"e131","DOI":"10.1371\/journal.pgen.0020131","volume":"2","author":"A Chapgier","year":"2006","unstructured":"Chapgier A, et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet. 2006;2(8):e131.","journal-title":"PLoS Genet"},{"key":"548_CR37","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.clim.2016.11.004","volume":"174","author":"M Ueki","year":"2017","unstructured":"Ueki M, et al. A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases. Clin Immunol. 2017;174:24\u201331.","journal-title":"Clin Immunol"},{"issue":"1","key":"548_CR38","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":"1","key":"548_CR39","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1128\/CDLI.8.1.133-137.2001","volume":"8","author":"LM Allende","year":"2001","unstructured":"Allende LM, et al. A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency. Clin Diagn Lab Immunol. 2001;8(1):133\u20137.","journal-title":"Clin Diagn Lab Immunol"},{"issue":"3","key":"548_CR40","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1093\/hmg\/ddp507","volume":"19","author":"X-F Kong","year":"2009","unstructured":"Kong X-F, et al. A novel form of cell type-specific partial IFN-\u03b3R1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon. Hum Mol Genet. 2009;19(3):434\u201344.","journal-title":"Hum Mol Genet"},{"issue":"3","key":"548_CR41","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1159\/000088682","volume":"73","author":"P Remiszewski","year":"2006","unstructured":"Remiszewski P, et al. Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFN\u03b3R1 deficiency. Respiration. 2006;73(3):375\u20138.","journal-title":"Respiration"},{"issue":"8","key":"548_CR42","doi-asserted-by":"publisher","first-page":"1509","DOI":"10.1093\/hmg\/ddr029","volume":"20","author":"I Sologuren","year":"2011","unstructured":"Sologuren I, et al. Partial recessive IFN-\u03b3R1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds. Hum Mol Genet. 2011;20(8):1509\u201323.","journal-title":"Hum Mol Genet"},{"issue":"5","key":"548_CR43","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1007\/s10875-013-9882-5","volume":"33","author":"H Bax","year":"2013","unstructured":"Bax H, et al. Interferon alpha treatment of patients with impaired interferon gamma signaling. J Clin Immunol. 2013;33(5):991\u20131001.","journal-title":"J Clin Immunol"},{"issue":"26","key":"548_CR44","doi-asserted-by":"publisher","first-page":"1956","DOI":"10.1056\/NEJM199612263352604","volume":"335","author":"E Jouanguy","year":"1996","unstructured":"Jouanguy E, et al. Interferon-\u03b3\u2013receptor deficiency in an infant with fatal bacille Calmette\u2013Gu\u00e9rin infection. N Engl J Med. 1996;335(26):1956\u201362.","journal-title":"N Engl J Med"},{"key":"548_CR45","doi-asserted-by":"crossref","unstructured":"Cecilia Mart\u00ednez-Morales M et al. Disseminated infection by M. tuberculosis complex in patient with IFN-\u03b3 receptor 1 complete deficiency. Rev Alerg Mex. 2017;64(4):499\u2013504.","DOI":"10.29262\/ram.v64i4.329"},{"issue":"26","key":"548_CR46","doi-asserted-by":"publisher","first-page":"1941","DOI":"10.1056\/NEJM199612263352602","volume":"335","author":"MJ Newport","year":"1996","unstructured":"Newport MJ, et al. A mutation in the interferon-\u03b3\u2013receptor gene and susceptibility to mycobacterial infection. N Engl J Med. 1996;335(26):1941\u20139.","journal-title":"N Engl J Med"},{"issue":"12","key":"548_CR47","doi-asserted-by":"publisher","first-page":"4234","DOI":"10.1182\/blood-2002-02-0433","volume":"100","author":"U Reuter","year":"2002","unstructured":"Reuter U, et al. Correction of complete interferon-\u03b3 receptor 1 deficiency by bone marrow transplantation. Blood. 2002;100(12):4234\u20135.","journal-title":"Blood"},{"issue":"5","key":"548_CR48","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1016\/S0022-3476(99)70064-8","volume":"135","author":"SE Dorman","year":"1999","unstructured":"Dorman SE, et al. Viral infections in interferon-\u03b3 receptor deficiency. J Pediatr. 1999;135(5):640\u20133.","journal-title":"J Pediatr"},{"issue":"4","key":"548_CR49","first-page":"378","volume":"22","author":"E Koscielniak","year":"2003","unstructured":"Koscielniak E, et al. Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency. Pediatr Infect Dis J. 2003;22(4):378\u201380.","journal-title":"Pediatr Infect Dis J"},{"issue":"2","key":"548_CR50","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1007\/s10875-008-9253-9","volume":"29","author":"W-I Lee","year":"2009","unstructured":"Lee W-I, et al. Chinese patients with defective IL-12\/23-interferon-\u03b3 circuit in Taiwan: partial dominant interferon-\u03b3 receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor \u03b21 mutation as pneumatocele. J Clin Immunol. 2009;29(2):238.","journal-title":"J Clin Immunol"},{"issue":"2","key":"548_CR51","doi-asserted-by":"publisher","first-page":"e167","DOI":"10.1016\/j.ijid.2009.03.025","volume":"14","author":"MG Marazzi","year":"2010","unstructured":"Marazzi MG, et al. Disseminated Mycobacterium scrofulaceum infection in a child with interferon-\u03b3 receptor 1 deficiency. Int J Infect Dis. 2010;14(2):e167\u201370.","journal-title":"Int J Infect Dis"},{"issue":"5","key":"548_CR52","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1007\/s10875-007-9097-8","volume":"27","author":"JG Noordzij","year":"2007","unstructured":"Noordzij JG, et al. Two patients with complete defects in interferon gamma receptor-dependent signaling. J Clin Immunol. 2007;27(5):490\u20136.","journal-title":"J Clin Immunol"},{"issue":"9","key":"548_CR53","doi-asserted-by":"publisher","first-page":"1368","DOI":"10.1016\/S0301-472X(99)00077-6","volume":"27","author":"J Roesler","year":"1999","unstructured":"Roesler J, et al. Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-\u03b3-receptor (IFN\u03b3R1) deficiency: mutational analysis and evaluation of therapeutic options. Exp Hematol. 1999;27(9):1368\u201374.","journal-title":"Exp Hematol"},{"issue":"6","key":"548_CR54","doi-asserted-by":"publisher","first-page":"e62","DOI":"10.1086\/605532","volume":"49","author":"DC Vinh","year":"2009","unstructured":"Vinh DC, et al. Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-\u03b3 receptor 1 deficiency. Clin Infect Dis. 2009;49(6):e62\u20135.","journal-title":"Clin Infect Dis"},{"issue":"9","key":"548_CR55","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.3324\/haematol.2014.114967","volume":"100","author":"S Nabhani","year":"2015","unstructured":"Nabhani S, et al. Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome like disease. Haematologica. 2015;100(9):1189\u201398.","journal-title":"Haematologica"},{"key":"548_CR56","doi-asserted-by":"publisher","first-page":"e20161668","DOI":"10.1542\/peds.2016-1668","volume":"140","author":"N Hatipoglu","year":"2017","unstructured":"Hatipoglu N, et al. Inherited IL-12R\u03b21 deficiency in a child with BCG adenitis and oral candidiasis: a case report. Pediatrics. 2017;140:e20161668.","journal-title":"Pediatrics"},{"issue":"3","key":"548_CR57","doi-asserted-by":"publisher","first-page":"331","DOI":"10.24953\/turkjped.2016.03.019","volume":"58","author":"B G\u00f6kt\u00fcrk","year":"2016","unstructured":"G\u00f6kt\u00fcrk 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"},{"key":"548_CR58","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1111\/cei.12746","volume":"184","author":"F Dhalla","year":"2016","unstructured":"Dhalla F, et al. Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility. Clin Exp Immunol. 2016;184:216\u201327.","journal-title":"Clin Exp Immunol"},{"issue":"9","key":"548_CR59","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1136\/jmg.2009.071910","volume":"47","author":"M C\u00e1rdenes","year":"2010","unstructured":"C\u00e1rdenes M, et al. Oesophageal squamous cell carcinoma in a young adult with IL-12R\u03b21 deficiency. J Med Genet. 2010;47(9):635\u20137.","journal-title":"J Med Genet"},{"issue":"1","key":"548_CR60","first-page":"79","volume":"30","author":"O Jirapongsananuruk","year":"2012","unstructured":"Jirapongsananuruk O, et al. Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene. Asian Pac J Allergy Immunol. 2012;30(1):79.","journal-title":"Asian Pac J Allergy Immunol"},{"issue":"10","key":"548_CR61","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1016\/S1473-3099(11)70217-1","volume":"11","author":"DC Vinh","year":"2011","unstructured":"Vinh DC. Insights into human antifungal immunity from primary immunodeficiencies. Lancet Infect Dis. 2011;11(10):780\u201392.","journal-title":"Lancet Infect Dis"},{"key":"548_CR62","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1086\/339011","volume":"185","author":"Y Sasaki","year":"2002","unstructured":"Sasaki Y, et al. Genetic basis of patients with bacille Calmette-Gu\u00e9rin osteomyelitis in Japan: identification of dominant partial interferon-\u03b3 receptor 1 deficiency as a predominant type. J Infect Dis. 2002;185:706\u20139.","journal-title":"J Infect Dis"},{"key":"548_CR63","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.clim.2016.11.004","volume":"174","author":"Masahiro Ueki","year":"2017","unstructured":"Ueki M, et al. A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases. Clin Immunol. 2017;174:24\u201331.","journal-title":"Clinical Immunology"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-018-0548-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-018-0548-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-018-0548-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,19]],"date-time":"2025-08-19T22:48:50Z","timestamp":1755643730000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-018-0548-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,25]]},"references-count":63,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["548"],"URL":"https:\/\/doi.org\/10.1007\/s10875-018-0548-1","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,25]]},"assertion":[{"value":"2 May 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 September 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 September 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"Informed consent for participation in this study was obtained in accordance with local regulations, with approval from the IRB. The experiments described here were performed in Iran and in France, in accordance with local regulations, and with the approval of the IRB for Isfahan Immunodeficiency Research Center (IIRC), Iran, and for Necker Hospital for Sick Children, France.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Research Involving Human Participants"}},{"value":"Written informed consent was obtained from the patients.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed Consent"}}]}}