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Twenty-two genes with products involved in the production of, or response to, IFN-\u03b3 and variants of which underlie MSMD have been identified. However, pathogenic variants of <jats:italic>IFNG<\/jats:italic> encoding a defective IFN-\u03b3 have been described in only two siblings, who both underwent hematopoietic stem cell transplantation (HCST).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We characterized a new patient with MSMD by genetic, immunological, and clinical means. Therapeutic decisions were taken on the basis of these findings.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The patient was born to consanguineous Turkish parents and developed bacillus Calmette-Gu\u00e9rin (BCG) disease following vaccination at birth. Whole-exome sequencing revealed a homozygous private <jats:italic>IFNG<\/jats:italic> variant (c.224\u00a0T\u2009&gt;\u2009C, p.F75S). Upon overexpression in recipient cells or constitutive expression in the patient\u2019s cells, the mutant IFN-\u03b3 was produced within the cells but was not correctly folded or secreted. The patient was treated for 6\u00a0months with two or three antimycobacterial drugs only and then for 30\u00a0months with subcutaneous recombinant IFN-\u03b31b plus two antimycobacterial drugs. Treatment with IFN-\u03b31b finally normalized all biological parameters. The patient presented no recurrence of mycobacterial disease or other related infectious diseases. The treatment was well tolerated, without the production of detectable autoantibodies against IFN-\u03b3.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>We describe a patient with a new form of autosomal recessive IFN-\u03b3 deficiency, with intracellular, but not extracellular IFN-\u03b3. IFN-\u03b31b treatment appears to have been beneficial in this patient, with no recurrence of mycobacterial infection over a period of more than 30\u00a0months. This targeted treatment provides an alternative to HCST in patients with complete IFN-\u03b3 deficiency or at least an option to better control mycobacterial infection prior to HCST.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10875-024-01661-5","type":"journal-article","created":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T11:02:39Z","timestamp":1708081359000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Recombinant IFN-\u03b31b Treatment in a Patient with Inherited IFN-\u03b3 Deficiency"],"prefix":"10.1007","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2822-161X","authenticated-orcid":false,"given":"J\u00e9r\u00e9mie","family":"Rosain","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5821-3963","authenticated-orcid":false,"given":"Ayca","family":"Kiykim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5035-3400","authenticated-orcid":false,"given":"Alexandre","family":"Michev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8016-5224","authenticated-orcid":false,"given":"Yasemin","family":"Kendir-Demirkol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8851-7730","authenticated-orcid":false,"given":"Darawan","family":"Rinchai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1894-8882","authenticated-orcid":false,"given":"Jessica N.","family":"Peel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0764-2837","authenticated-orcid":false,"given":"Hailun","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suheyla","family":"Ocak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinar Gokmirza","family":"Ozdemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7253-3135","authenticated-orcid":false,"given":"Tom","family":"Le Voyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quentin","family":"Philippot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7917-8965","authenticated-orcid":false,"given":"Taushif","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8573-6820","authenticated-orcid":false,"given":"Anna-Lena","family":"Neehus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3062-1214","authenticated-orcid":false,"given":"M\u00e9lanie","family":"Migaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Soud\u00e9e","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7115-116X","authenticated-orcid":false,"given":"St\u00e9phanie","family":"Boisson-Dupuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1927-7072","authenticated-orcid":false,"given":"Nico","family":"Marr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8773-9144","authenticated-orcid":false,"given":"Alessandro","family":"Borghesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7782-4169","authenticated-orcid":false,"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3439-2482","authenticated-orcid":false,"given":"Jacinta","family":"Bustamante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,16]]},"reference":[{"issue":"6\u20137","key":"1661_CR1","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1007\/s00439-020-02120-y","volume":"139","author":"J Bustamante","year":"2020","unstructured":"Bustamante J. 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