{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T10:38:53Z","timestamp":1771843133470,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2011,11,14]],"date-time":"2011-11-14T00:00:00Z","timestamp":1321228800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Interleukin\u201012 receptor deficiency is a well\u2010described cause of human susceptibility to infection with low\u2010virulent mycobacteria and Salmonella species. We identified a male patient presenting in his late forties with severe gastroenteropathy because of outbred infestation by a previously unknown mycobacterium. In addition to selective IgA deficiency, the patient was found to carry a not previously described R283X homozygous mutation in his IL12R\u03921 gene. Two of his sisters, a brother, and his four children were healthy, heterozygous carriers of the mutation. In this patient, the combination of two deficiencies could promote illness. Even though the IgA deficiency in itself does not predispose to mycobacterial disease, the lack of secreted IgA may have disturbed the intestinal homoeostasis and increased the susceptibility to the low\u2010virulent mycobacterium that the patient was not able to clear because of his IL12R deficiency. Antimycobacterial chemotherapy and interferon\u2010\u03b3 treatment for 2\u2003years significantly improved his condition. This is the first description of IL12R\u03921 deficiency combined with another immunodeficiency, and we suggest that combinatory defects may circumvent the otherwise low penetrance of IL12RB1 deficiency.<\/jats:p>","DOI":"10.1111\/j.1365-3083.2011.02603.x","type":"journal-article","created":{"date-parts":[[2011,8,3]],"date-time":"2011-08-03T19:23:27Z","timestamp":1312399407000},"page":"548-553","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Combined IL\u201012 Receptor and IgA Deficiency in an Adult Man Intestinally Infested by an Unknown, Non\u2010Cultivable Mycobacterium"],"prefix":"10.1111","volume":"74","author":[{"given":"L.","family":"Schejbel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. M.","family":"Rasmussen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. 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