{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:07:46Z","timestamp":1791389266711,"version":"4.3.3"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T00:00:00Z","timestamp":1707868800000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>We aimed to describe the clinical, immunological, and genetic features of patients with DOCK8 deficiency (DOCK8\u2010Def) in a tertiary care center for children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective chart review of patients' clinical, immunological, and genetic characteristics with DOCK8\u2010Def. Genetic analysis was performed with targeted\u2010 or whole\u2010exome sequencing; we also assessed DOCK8 protein expression and a lymphoproliferation assay and analyzed survival by the Kaplan\u2013Meier method.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We described 11 patients from 8 unrelated kindreds. The median age at symptoms' onset was 10\u2009months (range 1\u201354\u2009months). The median follow\u2010up time was 53.4\u2009months (4.8\u2013118.8). All patients presented eczema and recurrent sinopulmonary and cutaneous infections. Besides those symptoms, the most frequent manifestations were bronchiectases (8\/11), food allergies (6\/11), and severe infections (6\/11). Infrequent characteristics were detection of CMV in bronchial lavage, <jats:italic>C. parvum<\/jats:italic>\u2010driven sclerosing cholangitis, Takayasu vasculitis, neurological syndromes, pulmonary tuberculosis, and lymphomatoid granulomatosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>DOCK8\u2010Def has a broad spectrum of manifestations, including allergy, autoimmunity, inflammation, infection, and cancer. The hallmark of this inborn error of immunity is IEI\u2010associated eczema with eosinophilia and increased IgE. Here, we report six new mutations causing human DOCK8 deficiency and symptoms previously unrecognized to occur in DOCK8\u2010Def. Therefore, an early diagnosis of DOCK8\u2010Def is essential to facilitate an adequate treatment such as HSCT.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pai.14073","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T03:33:22Z","timestamp":1707881602000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical, immunological, and genetic description of a Mexican cohort of patients with <scp>DOCK8<\/scp> deficiency"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2118-4489","authenticated-orcid":false,"given":"Eduardo","family":"Liquidano\u2010Perez","sequence":"first","affiliation":[{"name":"Primary Immunodeficiency Laboratory National Institute of Pediatrics  Mexico City 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