{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T11:15:33Z","timestamp":1783682133389,"version":"3.55.0"},"reference-count":0,"publisher":"Codon Publications","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Allergol Immunopathol"],"abstract":"<jats:p>Deficiency of dedicator of cytokinesis 8 (DOCK8) is a combined immunodeficiency characterized by severe atopic dermatitis, recurrent infections, and elevated serum immunoglobulin E (IgE) levels. Following genetic confirmation, early hematopoietic stem cell transplantation (HSCT) is the treatment of choice. We report a 7-year-old girl who presented with refractory atopic dermatitis and recurrent sinopulmonary infections. Laboratory evaluation revealed markedly elevated total IgE, lymphopenia, decreased memory B cells, and poor vaccine responses. Whole exome sequencing identified a previously unreported homozygous nonsense mutation in the\u00a0DOCK8\u00a0gene (c.5382C&gt;A; p.Tyr1794*). Functional validation was achieved through flow cytometry, which demonstrated significantly reduced DOCK8 protein expression. The patient underwent successful HSCT from a fully matched (10\/10) HLA-compatible donor following conditioning with fludarabine and treosulfan. At 1 year follow-up, full donor chimerism was achieved, and the patient remained in remission. This case highlights a novel pathogenic variant in DOCK8 deficiency and demonstrates curative success following definitive diagnosis and timely HSCT.<\/jats:p>","DOI":"10.15586\/aei.v54i4.1585","type":"journal-article","created":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T21:11:03Z","timestamp":1782940263000},"page":"144-150","source":"Crossref","is-referenced-by-count":0,"title":["Novel pathological genetic variant associated with DOCK8 deficiency: case report with successful hematopoietic stem cell transplantation"],"prefix":"10.15586","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6093-2737","authenticated-orcid":false,"given":"Hilal","family":"Karabag Citlak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9647-8970","authenticated-orcid":false,"given":"Ayberk","family":"Turkyilmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3461-2094","authenticated-orcid":false,"given":"Hakan","family":"Kot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4544-9341","authenticated-orcid":false,"given":"Fatih Sultan","family":"Mehmet Koc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0201-6877","authenticated-orcid":false,"given":"Kubra","family":"AdanurSaglam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8909-8486","authenticated-orcid":false,"given":"Seyma","family":"Celikbilek Celik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salih","family":"Guler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0738-4679","authenticated-orcid":false,"given":"Nalan","family":"Yildiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7344-8947","authenticated-orcid":false,"given":"Sevgi","family":"Keles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4850-932X","authenticated-orcid":false,"given":"Fazil","family":"Orhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"6228","published-online":{"date-parts":[[2026,7,1]]},"container-title":["Allergologia et Immunopathologia"],"original-title":[],"link":[{"URL":"https:\/\/www.all-imm.com\/index.php\/aei\/article\/download\/1585\/2503","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.all-imm.com\/index.php\/aei\/article\/download\/1585\/2504","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.all-imm.com\/index.php\/aei\/article\/download\/1585\/2505","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.all-imm.com\/index.php\/aei\/article\/download\/1585\/2503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T10:40:54Z","timestamp":1783680054000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.all-imm.com\/index.php\/aei\/article\/view\/1585"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,1]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,7,1]]}},"URL":"https:\/\/doi.org\/10.15586\/aei.v54i4.1585","relation":{},"ISSN":["0301-0546"],"issn-type":[{"value":"0301-0546","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,1]]}}}