{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:30:16Z","timestamp":1789785016917,"version":"4.0.1"},"reference-count":10,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Medicine High Impact Case Reports"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>Mendelian susceptibility to mycobacterial diseases (MSMD) are a spectrum of inherited disorders characterized by localized or disseminated infections caused by atypical mycobacteria. Interferon-\u03b3 receptor 1 (IFNGR1) deficiency was the first identified genetic disorder recognized as MSMD. Mutations in the genes encoding IFNGR1 can be recessive or dominant and cause complete or partial receptor deficiency. We present the case of a 2\u00bd-year-old boy with a history of recurrent wheezing, diagnosed with endobronchial mycobacterial infection. Immunological workup revealed a homozygous nonsense mutation in the IFNGR1 gene, a novel mutation predicted in silico to cause complete IFNGR1 deficiency. This case demonstrates that ( a) Interferon-\u03b3 receptor deficiency can present resembling common disorders of the lung; ( b) mycobacterial infections should be suspected when parenchymal lung disease, hilar lymphadenopathy, and endobronchial disease are present; and ( c) high index of suspicion for immunodeficiency should be maintained in patients with disseminated nontubercular mycobacterial infection.<\/jats:p>","DOI":"10.1177\/2324709616675463","type":"journal-article","created":{"date-parts":[[2016,11,9]],"date-time":"2016-11-09T06:10:08Z","timestamp":1478671808000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["Novel Mutation of Interferon-\u03b3 Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease"],"prefix":"10.1177","volume":"4","author":[{"given":"Maria J.","family":"Gutierrez","sequence":"first","affiliation":[{"name":"Johns Hopkins University, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neelu","family":"Kalra","sequence":"additional","affiliation":[{"name":"Allergy Associates of La Crosse, Onalaska, WI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Horwitz","sequence":"additional","affiliation":[{"name":"Pennsylvania State University, Hershey, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gustavo","family":"Nino","sequence":"additional","affiliation":[{"name":"Children\u2019s National Medical Center, Washington, DC, USA"},{"name":"George Washington University, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2016,11,8]]},"reference":[{"key":"bibr1-2324709616675463","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199612263352604"},{"key":"bibr2-2324709616675463","doi-asserted-by":"publisher","DOI":"10.1016\/j.smim.2014.09.008"},{"key":"bibr3-2324709616675463","doi-asserted-by":"publisher","DOI":"10.1016\/j.smim.2006.07.010"},{"key":"bibr4-2324709616675463","unstructured":"The NCBI Gene Database; National Library of Medicine (US). IFNGR1 Interferon Gamma Receptor 1, Gene ID: 3459. http:\/\/www.ncbi.nlm.nih.gov\/gene\/3459. Accessed October 14, 2016."},{"key":"bibr5-2324709616675463","doi-asserted-by":"publisher","DOI":"10.1111\/j.0105-2896.2005.00227.x"},{"key":"bibr6-2324709616675463","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25625"},{"key":"bibr7-2324709616675463","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)17552-1"},{"key":"bibr8-2324709616675463","doi-asserted-by":"publisher","DOI":"10.1016\/S1473-3099(15)00089-4"},{"key":"bibr9-2324709616675463","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(00)01561-9"},{"key":"bibr10-2324709616675463","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"}],"container-title":["Journal of Investigative Medicine High Impact Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2324709616675463","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2324709616675463","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2324709616675463","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:59:12Z","timestamp":1777449552000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2324709616675463"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1177\/2324709616675463"],"URL":"https:\/\/doi.org\/10.1177\/2324709616675463","relation":{},"ISSN":["2324-7096","2324-7096"],"issn-type":[{"value":"2324-7096","type":"print"},{"value":"2324-7096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10]]},"article-number":"2324709616675463"}}