{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T04:27:05Z","timestamp":1771907225416,"version":"3.50.1"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T00:00:00Z","timestamp":1566345600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009053","name":"DBT India Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2019.01964","type":"journal-article","created":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T04:19:52Z","timestamp":1566361192000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":21,"title":["A Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases"],"prefix":"10.3389","volume":"10","author":[{"given":"Aravind K.","family":"Bandari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Babylakshmi","family":"Muthusamy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunil","family":"Bhat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Periyasamy","family":"Govindaraj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavithra","family":"Rajagopalan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aparna","family":"Dalvi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siddharth","family":"Shankar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Remya","family":"Raja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kavita S.","family":"Reddy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manisha","family":"Madkaikar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akhilesh","family":"Pandey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2019,8,21]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/j.smim.2014.09.008","article-title":"Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-\u03b3 immunity","volume":"26","author":"Bustamante","year":"2014","journal-title":"Semin Immunol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1111\/imr.12272","article-title":"Inherited and acquired immunodeficiencies underlying tuberculosis in childhood","volume":"264","author":"Boisson-Dupuis","year":"2015","journal-title":"Immunol Rev."},{"key":"B3","first-page":"161","article-title":"A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand","volume":"27","author":"Luangwedchakarn","year":"2009","journal-title":"Asian Pac J Allergy Immunol."},{"key":"B4","first-page":"401","article-title":"Bacille calmette-guerin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency","volume":"21","author":"Aytekin","year":"2011","journal-title":"J Investig Allergol Clin Immunol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"2113","DOI":"10.1016\/S0140-6736(04)17552-1","article-title":"Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies","volume":"364","author":"Dorman","year":"2004","journal-title":"Lancet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1509","DOI":"10.1093\/hmg\/ddr029","article-title":"Partial recessive IFN-\u03b3R1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds","volume":"20","author":"Sologuren","year":"2011","journal-title":"Hum Mol Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"762","DOI":"10.1016\/j.imbio.2012.08.281","article-title":"Patients with inhibitory and neutralizing auto-antibodies to interferon-gamma resemble the sporadic adult-onset phenotype of mendelian susceptibility to mycobacterial disease (MSMD) lacking bacille calmette-guerin (BCG)-induced diseases","volume":"218","author":"Lee","year":"2013","journal-title":"Immunobiology."},{"key":"B8","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1007\/s10875-017-0465-8","article-title":"The 2017 IUIS phenotypic classification for primary immunodeficiencies","volume":"38","author":"Bousfiha","year":"2018","journal-title":"J Clin Immunol."},{"key":"B9","first-page":"1138","article-title":"[Our experiences in three years of BCG vaccination at the center of the O.P.H.S. at Constantine; study of observed cases (25 cases of complications from BCG vaccination)]","volume":"55","author":"Mimouni","year":"1951","journal-title":"Alger Medicale."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1956","DOI":"10.1056\/NEJM199612263352604","article-title":"Interferon-gamma-receptor deficiency in an infant with fatal bacille calmette-guerin infection","volume":"335","author":"Jouanguy","year":"1996","journal-title":"N Engl J Med."},{"key":"B11","doi-asserted-by":"publisher","first-page":"3919","DOI":"10.1093\/hmg\/ddy275","article-title":"A purely quantitative form of partial recessive IFN-gammaR2 deficiency caused by mutations of the initiation or second codon","volume":"27","author":"Oleaga-Quintas","year":"2018","journal-title":"Hum Mol Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1111\/imcb.12210","article-title":"Mendelian susceptibility to mycobacterial disease: 2014-2018 update","volume":"97","author":"Rosain","year":"2018","journal-title":"Immunol Cell Biol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1007\/s10875-017-0464-9","article-title":"International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity","volume":"38","author":"Picard","year":"2018","journal-title":"J Clin Immunol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/j.smim.2006.07.010","article-title":"Inborn errors of IL-12\/23- and IFN-\u03b3-mediated immunity: molecular, cellular, and clinical features","volume":"18","author":"Filipe-Santos","year":"2006","journal-title":"Semin Immunol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1111\/j.1365-2249.2006.03138.x","article-title":"Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists","volume":"145","author":"de Vries","year":"2006","journal-title":"Clin Exp Immunol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"2095","DOI":"10.1182\/blood-2004-02-0584","article-title":"A novel form of complete IL-12\/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors","volume":"104","author":"Fieschi","year":"2004","journal-title":"Blood."},{"key":"B17","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1186\/1824-7288-36-76","article-title":"Genetics of SCID","volume":"36","author":"Cossu","year":"2010","journal-title":"Ital J Pediatr."},{"key":"B18","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1111\/j.1399-0004.2010.01510.x","article-title":"Mendelian susceptibility to mycobacterial disease","volume":"79","author":"Cottle","year":"2011","journal-title":"Clin Genet."},{"key":"B19","doi-asserted-by":"crossref","first-page":"2267","DOI":"10.4049\/jimmunol.163.4.2267","article-title":"Pretransplant frequency of donor-specific, IFN-\u03b3-producing lymphocytes is a manifestation of immunologic memory and correlates with the risk of posttransplant rejection episodes","volume":"163","author":"Heeger","year":"1999","journal-title":"J Immunol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"S42","DOI":"10.3109\/1354750X.2011.578754","article-title":"Monitoring tolerance and rejection in organ transplant recipients","volume":"16","author":"Sawitzki","year":"2011","journal-title":"Biomarkers."},{"key":"B21","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1089\/omi.2017.0009","article-title":"Next-generation sequencing reveals novel mutations in X-linked intellectual disability","volume":"21","author":"Muthusamy","year":"2017","journal-title":"OMICS."},{"key":"B22","doi-asserted-by":"publisher","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics."},{"key":"B23","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1093\/molehr\/gap039","article-title":"The genotype of the NK cell receptor, KIR2DL4, influences INFgamma secretion by decidual natural killer cells","volume":"15","author":"Goodridge","year":"2009","journal-title":"Mol Hum Reprod."},{"key":"B24","doi-asserted-by":"publisher","first-page":"2364","DOI":"10.1172\/JCI2901","article-title":"Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection","volume":"101","author":"Dorman","year":"1998","journal-title":"J Clin Invest."},{"key":"B25","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1086\/315197","article-title":"Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection","volume":"181","author":"Doffinger","year":"2000","journal-title":"J Infect Dis."},{"key":"B26","doi-asserted-by":"publisher","first-page":"4000","DOI":"10.4049\/jimmunol.173.6.4000","article-title":"A novel mutation in IFN-\u03b3 receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states","volume":"173","author":"Rosenzweig","year":"2004","journal-title":"J Immunol."},{"key":"B27","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1038\/ng1581","article-title":"Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations","volume":"37","author":"Vogt","year":"2005","journal-title":"Nat Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1084\/jem.20071987","article-title":"Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation","volume":"205","author":"Vogt","year":"2008","journal-title":"J Exp Med."},{"key":"B29","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1136\/jmg.2009.072108","article-title":"Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency","volume":"47","author":"Toyoda","year":"2010","journal-title":"J Med Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1016\/j.jinf.2012.08.008","article-title":"Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-\u03b3R2 deficiency","volume":"65","author":"Kilic","year":"2012","journal-title":"J Infect."},{"key":"B31","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1093\/hmg\/dds484","article-title":"Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease","volume":"22","author":"Kong","year":"2013","journal-title":"Hum Mol Genet."},{"key":"B32","doi-asserted-by":"publisher","first-page":"2390","DOI":"10.1182\/blood-2013-01-480814","article-title":"Partial IFN-\u03b3R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation","volume":"122","author":"Moncada-Velez","year":"2013","journal-title":"Blood."},{"key":"B33","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1107\/S2059798316012237","article-title":"Crystal structure of human interferon-gamma receptor 2 reveals the structural basis for receptor specificity","volume":"72","author":"Mikulecky","year":"2016","journal-title":"Acta Crystallogr D Struct Biol."},{"key":"B34","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1007\/s12079-018-0486-y","article-title":"Comprehensive network map of interferon gamma signaling","volume":"12","author":"Bhat","year":"2018","journal-title":"J Cell Commun Signal."},{"key":"B35","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1146\/annurev.iy.11.040193.003035","article-title":"The molecular cell biology of interferon-gamma and its receptor","volume":"11","author":"Farrar","year":"1993","journal-title":"Annu Rev Immunol."},{"key":"B36","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1093\/hmg\/ddy357","article-title":"A purely quantitative form of partial recessive IFN-gammaR2 deficiency caused by mutations of the initiation or second codon","volume":"28","author":"Oleaga-Quintas","year":"2019","journal-title":"Hum Mol Genet."}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2019.01964\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T09:07:24Z","timestamp":1695114444000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2019.01964\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,21]]},"references-count":36,"alternative-id":["10.3389\/fimmu.2019.01964"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2019.01964","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,21]]},"article-number":"1964"}}