{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T23:17:54Z","timestamp":1790983074202,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T00:00:00Z","timestamp":1787616000000},"content-version":"vor","delay-in-days":236,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Immunology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mendelian susceptibility to mycobacterial disease (MSMD) is a subset of inborn errors of immunity (IEIs) predisposing to clinical infections from less virulent mycobacterial species. Variants in 22 genes, particularly in IL\u201012R\u03b21, have been identified that impair interferon\u2010gamma (IFN\u2010\u03b3)\u2010mediated immunity. We report a new rare MSMD patient with a homozygous\n                      <jats:italic>IL12RB1<\/jats:italic>\n                      variant who presented with severe and persistent ascites.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Report<\/jats:title>\n                    <jats:p>\n                      We investigated a 30\u2010month\u2010old girl who developed an abscess and lymphadenopathy (LAP) in the left axilla after receiving a BCG vaccine. She was diagnosed and treated for BCG\u2010osis. She presented with ascites, which gradually worsened, along with symptoms of liver dysfunction. Her portal hypertension (PHT) was considered the most likely cause of ascites after exclusion of other common causes. The whole exome sequencing (WES) revealed a homozygous rare variant (c.635G&gt;A; p.Arg212Gln) in the\n                      <jats:italic>IL12RB1<\/jats:italic>\n                      gene. Sanger sequencing analysis confirmed that both parents were heterozygous carriers of the variant. She made a good recovery after receiving the appropriate antimycobacterial and ascites treatments, with significant resolution of her symptoms. Because disseminated\n                      <jats:italic>M. bovis<\/jats:italic>\n                      BCG infection occurred in the setting of IL\u201012R\u03b21 deficiency, prolonged susceptibility\u2010guided antimycobacterial therapy with adjunctive IFN\u2010\u03b31b\u2009and close follow\u2010up by infectious disease and immunology, was planned.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case highlights severe persistent ascites as an unusual manifestation of PHT in IL\u201012R\u03b21 deficiency associated with MSMD. Evaluation for PHT should be considered in MSMD patients with abdominal distension, gastrointestinal symptoms, hepatosplenomegaly, abnormal liver function tests, growth failure, or unexplained free abdominal fluid.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crii\/3587297","type":"journal-article","created":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T09:00:51Z","timestamp":1787648451000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Persistent Ascites Revealing Mendelian Susceptibility to Mycobacterial Disease Due to IL\u201012R\u03b21 Deficiency: A Case Report and Review of the Literature"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5686-4535","authenticated-orcid":false,"given":"Mohammadreza","family":"Dolikhani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0760-4590","authenticated-orcid":false,"given":"Ghazaleh","family":"Shakibamaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parisa","family":"Rashtian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8431-395X","authenticated-orcid":false,"given":"Mohammad","family":"Saberi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2401-6602","authenticated-orcid":false,"given":"Azadeh","family":"Reshadmanesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hosseinali","family":"Ghafaripour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elham","family":"Moradian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6224-4797","authenticated-orcid":false,"given":"Seyed Alireza","family":"Mahdaviani","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":"311","published-online":{"date-parts":[[2026,8,25]]},"reference":[{"key":"e_1_2_14_1_2","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2014.00627"},{"key":"e_1_2_14_2_2","first-page":"370","article-title":"Mendelian Susceptibility to Mycobacterial Disease Due to IL-12R\u03b21 Deficiency in Three Iranian Children","volume":"45","author":"Sarrafzadeh S. 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