{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T05:23:51Z","timestamp":1736400231465,"version":"3.32.0"},"reference-count":24,"publisher":"American Society of Tropical Medicine and Hygiene","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,8]]},"abstract":"<jats:title>ABSTRACT.<\/jats:title>\n<jats:p>This report documents the first known cases of lepromatous leprosy in patients with chronic mucocutaneous candidiasis (CMC) linked to a gain-of-function mutation in the STAT1 gene. Two related patients, a mother and daughter, who both suffer from CMC and lepromatous leprosy, carry a heterozygous STAT1 mutation (c.821G&gt;A; p.R274Q). Both individuals exhibited similarly high levels of total and phosphorylated STAT1 in CD4<jats:sup>+<\/jats:sup> T cells and decreased interleukin 17A transcripts. This mutation underscores a complex relationship between genetic susceptibility to infections and the necessity to evaluate each case individually.<\/jats:p>","DOI":"10.4269\/ajtmh.24-0290","type":"journal-article","created":{"date-parts":[[2025,1,8]],"date-time":"2025-01-08T13:06:05Z","timestamp":1736341565000},"page":"124-127","source":"Crossref","is-referenced-by-count":0,"title":["Coinfection of Leprosy and Chronic Mucocutaneous Candidiasis in a Family with STAT1 Gain-of-Function Mutation"],"prefix":"10.4269","volume":"112","author":[{"given":"Lais Lima","family":"de Oliveira Rekowski","sequence":"first","affiliation":[{"name":"Laboratory of Immunology and Molecular Biology, Federal University of Sergipe, Aracaju, Brazil;"},{"name":"Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo Costa","family":"Caldas","sequence":"additional","affiliation":[{"name":"Laboratory of Immunology and Molecular Biology, Federal University of Sergipe, Aracaju, Brazil;"},{"name":"Department of Medicine, University Hospital, Federal University of Sergipe, Aracaju, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucas","family":"Menezes-Silva","sequence":"additional","affiliation":[{"name":"Department of Medicine, University Hospital, Federal University of Sergipe, Aracaju, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilla Nat\u00e1lia Oliveira","family":"Santos","sequence":"additional","affiliation":[{"name":"Laboratory of Immunology and Molecular Biology, Federal University of Sergipe, Aracaju, Brazil;"},{"name":"Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucas Sousa","family":"Magalh\u00e3es","sequence":"additional","affiliation":[{"name":"Laboratory of Immunology and Molecular Biology, Federal University of Sergipe, Aracaju, Brazil;"},{"name":"Institute of Biological and Health Sciences, Federal University of Alagoas, Macei\u00f3, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo Anselmo","family":"Cazzaniga","sequence":"additional","affiliation":[{"name":"Laboratory of Immunology and Molecular Biology, Federal University of Sergipe, Aracaju, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nailson Alves","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Department of Medicine, University Hospital, Federal University of Sergipe, Aracaju, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priscila Lima","family":"Santos","sequence":"additional","affiliation":[{"name":"Laboratory of Immunology and Molecular Biology, Federal University of Sergipe, Aracaju, Brazil;"},{"name":"Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo Lu\u00eds","family":"Louzada da Silva","sequence":"additional","affiliation":[{"name":"Laboratory of Immunology and Molecular Biology, Federal University of Sergipe, Aracaju, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela Maria","family":"da Silva","sequence":"additional","affiliation":[{"name":"Laboratory of Immunology and Molecular Biology, Federal University of Sergipe, Aracaju, Brazil;"},{"name":"Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Brazil;"},{"name":"Department of Medicine, University Hospital, Federal University of Sergipe, Aracaju, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven M.","family":"Holland","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amelia Ribeiro","family":"de Jesus","sequence":"additional","affiliation":[{"name":"Laboratory of Immunology and Molecular Biology, Federal University of Sergipe, Aracaju, Brazil;"},{"name":"Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Brazil;"},{"name":"Department of Medicine, University Hospital, Federal University of Sergipe, Aracaju, Brazil;"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2795","reference":[{"key":"b1","series-title":"Nat Immunol","first-page":"374","article-title":"Mechanisms and consequences of Jak-STAT signaling in the immune system","volume":"18","author":"Villarino","year":"2017"},{"key":"b2","series-title":"Signal Transduct Target Ther","first-page":"402","article-title":"The JAK\/STAT signaling pathway: From bench to clinic","volume":"6","author":"Hu","year":"2021"},{"key":"b3","series-title":"Front 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disease: Impaired production of IL-17A and IL-22, and the presence of anti\u2013IL-17F autoantibody","volume":"193","author":"Yamazaki","year":"2014"},{"key":"b19","series-title":"Front Immunol","first-page":"1433","article-title":"STAT1 gain-of-function mutations cause high total STAT1 levels with normal dephosphorylation","volume":"10","author":"Zimmerman","year":"2019"},{"key":"b20","series-title":"Clin Immunol","first-page":"109174","article-title":"Aberrant tolerogenic functions and proinflammatory skew of dendritic cells in STAT1 gain-of-function patients may contribute to autoimmunity and fungal susceptibility","volume":"246","author":"Parackova","year":"2023"},{"key":"b21","series-title":"J Clin Immunol","first-page":"1640","article-title":"Neutrophils in STAT1 gain-of-function have a pro-inflammatory signature which is not rescued by JAK inhibition","volume":"43","author":"Parackova","year":"2023"},{"key":"b22","series-title":"Int 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