{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T07:03:10Z","timestamp":1771657390716,"version":"3.50.1"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T00:00:00Z","timestamp":1664841600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T00:00:00Z","timestamp":1664841600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Infect Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Sarcoidosis is a systemic inflammatory disease that is characterized by non-caseating epithelioid-cell granulomas upon histology. However, similar histological findings may also be seen with certain infections. Thus, differentiation from infection is pivotal to ensure appropriate treatment. Here, we present a case of a disseminated infection with <jats:italic>Mycobacterium genavense<\/jats:italic> owing to an interleukin 12 receptor subunit beta 1 (IL-12R\u03b21) associated immunodeficiency in a previously healthy female who was initially misdiagnosed with sarcoidosis. <jats:italic>M. genavense<\/jats:italic> is a nontuberculous mycobacterium which can cause lymphadenopathy, gastrointestinal and bone marrow infiltration in immunocompromised patients. With this case report we aim to highlight that an infection with <jats:italic>M. genavense<\/jats:italic> on the ground of a genetic defect of mycobacterial immune control may represent a rare differential diagnosis of sarcoidosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 31-year-old female was referred to our hospital with progressive lymphadenopathy, hepatosplenomegaly, pancytopenia and systemic inflammation. She had previously been evaluated for generalized lymphadenopathy in another hospital. At that time, lymph node biopsies had revealed sarcoid-like lesions and a systemic corticosteroid treatment was initiated based on a putative diagnosis of sarcoidosis. When her condition worsened, she was transferred to our university clinic, where the diagnosis of disseminated <jats:italic>M. genavense<\/jats:italic> infection owing to an inborn interferonopathy was made. Her family history revealed that her brother had also suffered from IL-12R\u03b21 deficiency and had died from a systemic infection with <jats:italic>M. genavense<\/jats:italic> at the age of 21. The patient received antimycobacterial treatment combined with subcutaneous type I interferon, which eventually led to a gradual improvement over the next months.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Differentiating between sarcoidosis and sarcoid-like lesions secondary to infections may be challenging, especially when pathogens are difficult to detect or not expected in an apparently immunocompetent patient. Patients with IL-12R\u03b21<jats:italic>-<\/jats:italic>associated immunodeficiency may be asymptomatic until adulthood, and disseminated <jats:italic>M. genavense<\/jats:italic> infection on the grounds of an IL-12R\u03b21<jats:italic>-<\/jats:italic>associated immunodeficiency may represent a rare differential diagnosis of sarcoidosis.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12879-022-07644-4","type":"journal-article","created":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T00:02:41Z","timestamp":1664841761000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Sarcoid-like lesions obfuscating the diagnosis of disseminated Mycobacterium genavense infection in a patient with IL-12R\u03b21-associated immunodeficiency"],"prefix":"10.1186","volume":"22","author":[{"given":"Sara","family":"Denicol\u00f2","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Laydevant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Fink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph","family":"Geiger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Pizzini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Sarcletti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Zschocke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Bellmann-Weiler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcnter","family":"Weiss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Tancevski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,10,4]]},"reference":[{"issue":"11","key":"7644_CR1","doi-asserted-by":"publisher","first-page":"1018","DOI":"10.1056\/NEJMRA2101555","volume":"385","author":"M Drent","year":"2021","unstructured":"Drent M, Crouser ED, Grunewald J. Challenges of sarcoidosis and its management. N Engl J Med. 2021;385(11):1018\u201332. https:\/\/doi.org\/10.1056\/NEJMRA2101555.","journal-title":"N Engl J Med"},{"issue":"8","key":"7644_CR2","doi-asserted-by":"publisher","first-page":"E26","DOI":"10.1164\/RCCM.202002-0251ST","volume":"201","author":"ED Crouser","year":"2020","unstructured":"Crouser ED, Maier LA, Baughman RP, et al. Diagnosis and detection of sarcoidosis. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2020;201(8):E26\u201351. https:\/\/doi.org\/10.1164\/RCCM.202002-0251ST.","journal-title":"Am J Respir Crit Care Med"},{"issue":"6","key":"7644_CR3","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/J.SMIM.2014.09.008","volume":"26","author":"J Bustamante","year":"2014","unstructured":"Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. 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Immunol Rev. 2015;264(1):182\u2013203. https:\/\/doi.org\/10.1111\/IMR.12266.","journal-title":"Immunol Rev"}],"container-title":["BMC Infectious Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12879-022-07644-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12879-022-07644-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12879-022-07644-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T00:02:43Z","timestamp":1664841763000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcinfectdis.biomedcentral.com\/articles\/10.1186\/s12879-022-07644-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,4]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["7644"],"URL":"https:\/\/doi.org\/10.1186\/s12879-022-07644-4","relation":{},"ISSN":["1471-2334"],"issn-type":[{"value":"1471-2334","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,4]]},"assertion":[{"value":"27 April 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 July 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 October 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient for the publication of this report and any accompanying images. Ethics approval was provided by the Ethics Committee of Innsbruck Medical University (EK Nr:1198\/2022).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"770"}}