{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:47:15Z","timestamp":1777312035490,"version":"3.51.4"},"reference-count":0,"publisher":"Hamad bin Khalifa University Press (HBKU Press)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,4]]},"abstract":"<jats:p>\n                    In this report, we have described a child suffering from Mendelian susceptibility to mycobacterial disease (MSMD) owing to an autosomal recessive, complete T-bet deficiency, which impairs IFN-\u03b3 production by innate and innate-like adaptive, but not mycobacterial-reactive purely adaptive lymphocytes. In this study, we explored the persistent upper airway inflammation (UAI) and blood eosinophilia in this patient. Unlike the wild-type (WT) T-bet, the mutant form of T-bet from this patient did not inhibit the production of T helper 2 (Th2) cytokines, including IL-4, IL-5, IL-9, and IL-13, when overexpressed in Th2 cells. Moreover,\n                    <jats:italic>Herpesvirus saimiri<\/jats:italic>\n                    immortalized T cells from the patient produced abnormally large amounts of Th2 cytokines, and the patient had markedly high plasma IL-5 and IL-13 concentrations. Finally, the patient\u2019s CD4\n                    <jats:sup>+<\/jats:sup>\n                    \u03b1\u03b2 T cells produced most of the Th2 cytokines in response to chronic stimulation, regardless of their antigen specificities, a phenotype reversed by the expression of WT T-bet. T-bet deficiency thus underlies the excessive production of Th2 cytokines, particularly IL-5 and IL-13, by CD4\n                    <jats:sup>+<\/jats:sup>\n                    \u03b1\u03b2 T cells, causing blood eosinophilia and UAI. The MSMD of this patient results from defective IFN-\u03b3 production by innate and innate-like adaptive lymphocytes, whereas the UAI and eosinophilia result from excessive Th2 cytokine production by adaptive CD4\n                    <jats:sup>+<\/jats:sup>\n                    \u03b1\u03b2 T lymphocytes.\n                  <\/jats:p>","DOI":"10.5339\/qmj.2022.fqac.24","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T04:30:31Z","timestamp":1649910631000},"source":"Crossref","is-referenced-by-count":1,"title":["Chronic upper airway inflammation related to high Th2 cytokines in Mendelian susceptibility to mycobacterial disease case"],"prefix":"10.5339","volume":"2022","author":[{"given":"Ibtihal","family":"Benhsaien","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Yang","sequence":"additional","affiliation":[{"name":"St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatima","family":"Ailal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Weisshaar","sequence":"additional","affiliation":[{"name":"Institute of Microbiology, ETH Zurich, CH-8093 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Mele","sequence":"additional","affiliation":[{"name":"Center of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of Italian Switzerland (USI), CH-6500 Bellinzona, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology, Inflammation, and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, 20460 Casablanca, Morocco E-mail: ibtihalbenhsaien@gmail.com"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacinta","family":"Bustamante","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology, Inflammation, and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, 20460 Casablanca, Morocco E-mail: ibtihalbenhsaien@gmail.com"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Bousfiha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3277","container-title":["Qatar Medical Journal"],"original-title":[],"link":[{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2022\/2\/article-24.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2022\/2\/article-24.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2022\/2\/article-24.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:10:44Z","timestamp":1777309844000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2022\/2\/article-24.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,4]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.5339\/qmj.2022.fqac.24","relation":{},"ISSN":["2227-0426"],"issn-type":[{"value":"2227-0426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,4]]}}}