{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:27:24Z","timestamp":1791289644188,"version":"4.3.0"},"reference-count":104,"publisher":"Rockefeller University Press","issue":"10","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,9,21]]},"abstract":"<jats:p>Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and\/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-\u03b1\/\u03b2, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17+ T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-\u03b3, IL-28\/29 (IFN-\u03bb), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and\/or viral infections, caused by impaired responses to IL-12 and IFN-\u03b1\/\u03b2. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans.<\/jats:p>","DOI":"10.1084\/jem.20140280","type":"journal-article","created":{"date-parts":[[2015,8,25]],"date-time":"2015-08-25T01:13:54Z","timestamp":1440465234000},"page":"1641-1662","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":357,"title":["Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome"],"prefix":"10.1084","volume":"212","author":[{"given":"Alexandra Y.","family":"Kreins","sequence":"first","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 1"},{"name":"Weill Cornell Graduate School of Medical Sciences, New York, NY 10065 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Ciancanelli","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Okada","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Fei","family":"Kong","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"No\u00e9","family":"Ram\u00edrez-Alejo","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara Sebnem","family":"Kilic","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology, Uluda\u011f University Faculty of Medicine, 16059 G\u00f6r\u00fckle, Bursa, Turkey 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamila","family":"El Baghdadi","sequence":"additional","affiliation":[{"name":"Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco 4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeaki","family":"Nonoyama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama 359-0042, Japan 5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Alireza","family":"Mahdaviani","sequence":"additional","affiliation":[{"name":"Pediatric Respiratory Diseases Research Center; 6 and 7"},{"name":"Department of Clinical Immunology and Infectious Diseases, Masih Daneshvari Hospital; National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, 141556153 Tehran, Iran 6 and 7"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Ailal","sequence":"additional","affiliation":[{"name":"Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco 8"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aziz","family":"Bousfiha","sequence":"additional","affiliation":[{"name":"Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco 8"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davood","family":"Mansouri","sequence":"additional","affiliation":[{"name":"Pediatric Respiratory Diseases Research Center; 6 and 7"},{"name":"Department of Clinical Immunology and Infectious Diseases, Masih Daneshvari Hospital; National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, 141556153 Tehran, Iran 6 and 7"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elma","family":"Nievas","sequence":"additional","affiliation":[{"name":"Immunology Unit, Pediatric Hospital A. 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