{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T19:40:15Z","timestamp":1789501215825,"version":"build-2803163510"},"reference-count":46,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T00:00:00Z","timestamp":1686009600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","award":["10352\/KPK\/NRPU\/R&D\/HEC\/2017"],"award-info":[{"award-number":["10352\/KPK\/NRPU\/R&D\/HEC\/2017"]}],"id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Infection and Public Health"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.jiph.2023.06.005","type":"journal-article","created":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T20:44:11Z","timestamp":1686861851000},"page":"1368-1378","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel mutations in genes of the IL-12\/IFN-\u03b3 axis cause susceptibility to tuberculosis"],"prefix":"10.1016","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-0149-5988","authenticated-orcid":false,"given":"Sajjad","family":"Ahmad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jawad","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eman H.","family":"Khalifa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farhad Ali","family":"Khattak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar Sheed","family":"khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syed Umar","family":"Farooq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sannaa M.A.","family":"Osman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdi M.","family":"Salih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6089-8906","authenticated-orcid":false,"given":"Nadeem","family":"Ullah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taj Ali","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.jiph.2023.06.005_bib1","doi-asserted-by":"crossref","first-page":"14194","DOI":"10.1038\/s41598-021-93501-4","article-title":"Characterization of rifampicin-resistant Mycobacterium tuberculosis in Khyber Pakhtunkhwa, Pakistan","volume":"11","author":"Khan","year":"2021","journal-title":"Sci Rep"},{"key":"10.1016\/j.jiph.2023.06.005_bib2","unstructured":"W.H.O. Global tuberculosis report 2021. \u3008https:\/\/wwwwhoint\/teams\/global-tuberculosis-programme\/tb-reports\u3009. 2021."},{"issue":"3","key":"10.1016\/j.jiph.2023.06.005_bib3","doi-asserted-by":"crossref","first-page":"138","DOI":"10.5152\/TurkPediatriArs.2017.5240","article-title":"Frequency of Mycobacterium bovis and mycobacteria in primary immunodeficiencies","volume":"52","author":"Ulusoy","year":"2017","journal-title":"Turk Pediatri Ars"},{"issue":"8","key":"10.1016\/j.jiph.2023.06.005_bib4","doi-asserted-by":"crossref","first-page":"297","DOI":"10.47102\/annals-acadmedsg.V44N8p297","article-title":"Disseminated Bacillus Calmette-Guerin and susceptibility to mycobacterial infections-implications on Bacillus Calmette-Guerin vaccinations","volume":"44","author":"Lee","year":"2015","journal-title":"Ann Acad Med Singap"},{"key":"10.1016\/j.jiph.2023.06.005_bib5","first-page":"1","article-title":"NF-\u03baB essential modulator deficiency leading to disseminated cutaneous atypical mycobacteria","volume":"7","author":"Braue","year":"2015","journal-title":"Mediterr. J. Hematol. Infect. Dis."},{"issue":"10","key":"10.1016\/j.jiph.2023.06.005_bib6","doi-asserted-by":"crossref","first-page":"1755","DOI":"10.1086\/425021","article-title":"Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans","volume":"190","author":"MacLennan","year":"2004","journal-title":"J Infect Dis"},{"key":"10.1016\/j.jiph.2023.06.005_bib7","series-title":"A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections. Seminars in immunopathology","year":"2016"},{"key":"10.1016\/j.jiph.2023.06.005_bib8","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ijid.2021.08.049","article-title":"Novel IL-12R\u03b21 deficiency-mediates recurrent cutaneous leishmaniasis","volume":"112","author":"Khattak","year":"2021","journal-title":"Int J Infect Dis: IJID: Publ Int Soc Infect Dis"},{"issue":"4","key":"10.1016\/j.jiph.2023.06.005_bib9","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1093\/infdis\/jiu140","article-title":"Association study of genes controlling IL-12-dependent IFN-\u03b3 immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco","volume":"210","author":"Sabri","year":"2014","journal-title":"J Infect Dis"},{"key":"10.1016\/j.jiph.2023.06.005_bib10","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.631298","article-title":"Clinical and molecular findings in mendelian susceptibility to mycobacterial diseases: experience from India","volume":"12","author":"Taur","year":"2021","journal-title":"Front Immunol"},{"issue":"1","key":"10.1016\/j.jiph.2023.06.005_bib11","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.0105-2896.2005.00227.x","article-title":"Defects in the interferon\u2010\u03b3 and interleukin\u201012 pathways","volume":"203","author":"Rosenzweig","year":"2005","journal-title":"Immunol Rev"},{"issue":"10","key":"10.1016\/j.jiph.2023.06.005_bib12","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1002\/humu.22380","article-title":"IL\u201012 R \u03b21 deficiency: mutation update and description of the IL 12 RB 1 variation database","volume":"34","author":"van de Vosse","year":"2013","journal-title":"Human Mutat"},{"issue":"5","key":"10.1016\/j.jiph.2023.06.005_bib13","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1189\/jlb.0306206","article-title":"Mycobacterium avium\u2010induced SOCS contributes to resistance to IFN\u2010\u03b3\u2010mediated mycobactericidal activity in human macrophages","volume":"80","author":"V\u00e1zquez","year":"2006","journal-title":"J Leukoc Biol"},{"issue":"1","key":"10.1016\/j.jiph.2023.06.005_bib14","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng0902-97","article-title":"Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae","volume":"32","author":"Ottenhoff","year":"2002","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.jiph.2023.06.005_bib15","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/imcb.12210","article-title":"Mendelian susceptibility to mycobacterial disease: 2014\u20132018 update","volume":"97","author":"Rosain","year":"2019","journal-title":"Immunol Cell Biol"},{"issue":"1","key":"10.1016\/j.jiph.2023.06.005_bib16","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1146\/annurev.immunol.20.081501.125851","article-title":"Genetic dissection of immunity to mycobacteria: the human model","volume":"20","author":"Casanova","year":"2002","journal-title":"Annu Rev Immunol"},{"issue":"1","key":"10.1016\/j.jiph.2023.06.005_bib17","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/s10875-019-00737-x","article-title":"Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee","volume":"40","author":"Tangye","year":"2020","journal-title":"J Clin Immunol"},{"issue":"6\u20137","key":"10.1016\/j.jiph.2023.06.005_bib18","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1007\/s00439-020-02120-y","article-title":"Mendelian susceptibility to mycobacterial disease: recent discoveries","volume":"139","author":"Bustamante","year":"2020","journal-title":"Hum Genet"},{"issue":"3","key":"10.1016\/j.jiph.2023.06.005_bib19","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/j.aller.2015.04.003","article-title":"Tuberculosis in an autosomal recessive case of chronic granulomatous disease due to mutation of the NCF1 gene","volume":"44","author":"Khan","year":"2016","journal-title":"Allergol Et Immunopathol"},{"key":"10.1016\/j.jiph.2023.06.005_bib20","first-page":"15","article-title":"Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease","volume":"118","author":"Le Voyer","year":"2021"},{"issue":"6515","key":"10.1016\/j.jiph.2023.06.005_bib21","doi-asserted-by":"crossref","DOI":"10.1126\/science.abd4570","article-title":"Inborn errors of type I IFN immunity in patients with life-threatening COVID-19","volume":"370","author":"Zhang","year":"2020","journal-title":"Science"},{"key":"10.1016\/j.jiph.2023.06.005_bib22","series-title":"Seminars in Immunology","article-title":"Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-\u03b3 immunity","year":"2014"},{"key":"10.1016\/j.jiph.2023.06.005_bib23","series-title":"Seminars in Immunology","article-title":"Inborn errors of IL-12\/23-and IFN-\u03b3-mediated immunity: molecular, cellular, and clinical features","year":"2006"},{"issue":"1","key":"10.1016\/j.jiph.2023.06.005_bib24","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.0105-2896.2005.00227.x","article-title":"Defects in the interferon\u2010\u03b3 and interleukin\u201012 pathways","volume":"203","author":"Rosenzweig","year":"2005","journal-title":"Immunol Rev"},{"key":"10.1016\/j.jiph.2023.06.005_bib25","series-title":"Global Tuberculosis Control Report 2021","author":"W.H.O","year":"2021"},{"key":"10.1016\/j.jiph.2023.06.005_bib26","article-title":"Variances in BCG protection against COVID-19 mortality: A global assessment","volume":"24","author":"Sarfraz","year":"2021","journal-title":"J Clin Tuberc Other Mycobact Dis"},{"issue":"4\u20135","key":"10.1016\/j.jiph.2023.06.005_bib27","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1007\/s12026-019-09094-8","article-title":"Novel nonsense IL-12R\u03b21 mutation associated with recurrent tuberculosis","volume":"67","author":"Ul Akbar","year":"2019","journal-title":"Immunol Res"},{"key":"10.1016\/j.jiph.2023.06.005_bib28","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.micpath.2016.09.020","article-title":"A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections","volume":"100","author":"Khan","year":"2016","journal-title":"Microb Pathog"},{"issue":"10","key":"10.1016\/j.jiph.2023.06.005_bib29","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1002\/pbc.26098","article-title":"Interferon-gamma reduces the proliferation of M. tuberculosis within macrophages from a patient with a novel hypomorphic NEMO mutation","volume":"63","author":"Khan","year":"2016","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.jiph.2023.06.005_bib30","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1186\/1471-2334-10-154","article-title":"Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study","volume":"10","author":"M\u00f6ller","year":"2010","journal-title":"BMC Infect Dis"},{"issue":"7","key":"10.1016\/j.jiph.2023.06.005_bib31","doi-asserted-by":"crossref","first-page":"1745","DOI":"10.1084\/jem.20060085","article-title":"X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production","volume":"203","author":"Filipe-Santos","year":"2006","journal-title":"J Exp Med"},{"issue":"12","key":"10.1016\/j.jiph.2023.06.005_bib32","doi-asserted-by":"crossref","first-page":"4565","DOI":"10.1182\/blood-2003-10-3655","article-title":"X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and\/or survival","volume":"103","author":"Nishikomori","year":"2004","journal-title":"Blood"},{"issue":"8","key":"10.1016\/j.jiph.2023.06.005_bib33","first-page":"601","article-title":"[Primary immunodeficiency complicated with Bacillus Calmette-Guerin infection: identification and clinical phenotype of a case of novel interleukin-12Rbeta1 gene mutation]","volume":"46","author":"Xie","year":"2008","journal-title":"Zhonghua er ke za zhi Chin J Pediatr"},{"issue":"6","key":"10.1016\/j.jiph.2023.06.005_bib34","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1172\/JCI37083","article-title":"A partial form of recessive STAT1 deficiency in humans","volume":"119","author":"Chapgier","year":"2009","journal-title":"J Clin Investig"},{"issue":"9","key":"10.1016\/j.jiph.2023.06.005_bib35","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1136\/jmg.38.9.579","article-title":"Ectodermal dysplasias: a new clinical-genetic classification","volume":"38","author":"Priolo","year":"2001","journal-title":"J Med Genet"},{"issue":"7","key":"10.1016\/j.jiph.2023.06.005_bib36","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1007\/s10875-022-01289-3","article-title":"Human inborn errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee","volume":"42","author":"Tangye","year":"2022","journal-title":"J Clin Immunol"},{"issue":"10","key":"10.1016\/j.jiph.2023.06.005_bib37","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000028875","article-title":"Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease: a case report","volume":"101","author":"Zhang","year":"2022","journal-title":"Medicine"},{"issue":"4","key":"10.1016\/j.jiph.2023.06.005_bib39","first-page":"452","article-title":"Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds","volume":"34","author":"Baba","year":"2014","journal-title":"J Clin Immunol"},{"issue":"4\u20135","key":"10.1016\/j.jiph.2023.06.005_bib40","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1007\/s12026-019-09094-8","article-title":"Novel nonsense IL-12Rbeta1 mutation associated with recurrent tuberculosis","volume":"67","author":"Ul Akbar","year":"2019","journal-title":"Immunol Res"},{"issue":"12","key":"10.1016\/j.jiph.2023.06.005_bib41","doi-asserted-by":"crossref","first-page":"2101","DOI":"10.1002\/pbc.25674","article-title":"Clinical and genotypic spectrum of chronic granulomatous disease in 71 Latin American patients: first report from the LASID registry","volume":"62","author":"de Oliveira-Junior","year":"2015","journal-title":"Pediatr Blood Cancer"},{"issue":"4","key":"10.1016\/j.jiph.2023.06.005_bib42","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0018524","article-title":"IL-12R\u03b21 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey","volume":"6","author":"Boisson-Dupuis","year":"2011","journal-title":"PloS One"},{"issue":"1","key":"10.1016\/j.jiph.2023.06.005_bib43","doi-asserted-by":"crossref","first-page":"133","DOI":"10.4049\/jimmunol.2001451","article-title":"Immunological, and clinical features of 32 patients with autosomal recessive STAT1 deficiency","volume":"207","author":"Le Voyer","year":"2021","journal-title":"J Immunol"},{"issue":"5","key":"10.1016\/j.jiph.2023.06.005_bib44","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/humu.20739","article-title":"Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations","volume":"29","author":"Fusco","year":"2008","journal-title":"Hum Mutat"},{"issue":"5","key":"10.1016\/j.jiph.2023.06.005_bib45","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1007\/s10875-021-00992-x","article-title":"EDA-ID: a severe clinical presentation associated with a new IKBKG mutation","volume":"41","author":"Bret Puvilland","year":"2021","journal-title":"J Clin Immunol"},{"issue":"1\u20132","key":"10.1016\/j.jiph.2023.06.005_bib46","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1007\/s00439-004-1208-5","article-title":"Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease","volume":"116","author":"Stasia","year":"2005","journal-title":"Hum Genet"},{"issue":"5","key":"10.1016\/j.jiph.2023.06.005_bib47","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1007\/s00439-004-1173-z","article-title":"Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells","volume":"115","author":"Bionda","year":"2004","journal-title":"Hum Genet"}],"container-title":["Journal of Infection and Public Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1876034123002101?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1876034123002101?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T15:17:55Z","timestamp":1761751075000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1876034123002101"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":46,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["S1876034123002101"],"URL":"https:\/\/doi.org\/10.1016\/j.jiph.2023.06.005","relation":{},"ISSN":["1876-0341"],"issn-type":[{"value":"1876-0341","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel mutations in genes of the IL-12\/IFN-\u03b3 axis cause susceptibility to tuberculosis","name":"articletitle","label":"Article Title"},{"value":"Journal of Infection and Public Health","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jiph.2023.06.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Author(s). Published by Elsevier Ltd on behalf of King Saud Bin Abdulaziz University for Health Sciences.","name":"copyright","label":"Copyright"}]}}