{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:16:25Z","timestamp":1787008585793,"version":"build-2736575974"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:00:00Z","timestamp":1696896000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Dedicator of cytokinesis protein 8 (DOCK8) deficiency is an autosomal recessive form of combined immunodeficiency. This rare disorder is characterized by an increased predisposition to allergy, autoimmunity and malignancies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To analyse clinical, immunological and molecular profiles of patients with DOCK8 deficiency.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinic records of all patients attending the primary immunodeficiency clinic from 2018 to 2021 were reviewed. Six patients from five families were found to have DOCK8 deficiency.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Median age at diagnosis was 7.5\u2005years (range 2\u201313), with a male\/female ratio of 5 : 1. Among the six patients, recurrent eczematous skin lesions were the predominant cutaneous manifestation, present in five patients (83%). Warts and molluscum contagiosum were evident in two patients (33%) and one patient (16%), respectively. Two patients had recalcitrant prurigo nodularis lesions and two had epidermodysplasia verruciformis-like lesions. Food allergies and asthma were reported by one patient each. Of the six patients, recurrent sinopulmonary infections were detected in five (83%). Epstein\u2013Barr virus-driven non-Hodgkin lymphoma with liver metastases was the only case of malignancy, in a 4-year-old boy. IgE was elevated in all patients. Lymphopenia and eosinophilia were observed in three patients (50%) and five patients (83.3%), respectively. Genetic analysis showed DOCK8 pathogenic variants in all patients: homozygous deletion mutations in two patients, compound heterozygous deletion mutations in one, and homozygous nonsense mutations in two. A novel pathogenic homozygous missense variant in the DOCK8 gene was identified in one patient.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>DOCK8 deficiency should be considered as a possibility in any patient with early onset eczema, cutaneous viral infections and increased predisposition to allergy, autoimmunity and malignancy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ced\/llad345","type":"journal-article","created":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T08:21:22Z","timestamp":1696926082000},"page":"226-234","source":"Crossref","is-referenced-by-count":7,"title":["Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India"],"prefix":"10.1093","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7954-0661","authenticated-orcid":false,"given":"Ankur","family":"Kumar Jindal","sequence":"first","affiliation":[{"name":"Allergy Immunology Unit"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4312-775X","authenticated-orcid":false,"given":"Archan","family":"Sil","sequence":"additional","affiliation":[{"name":"Allergy Immunology Unit"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ridhima","family":"Aggarwal","sequence":"additional","affiliation":[{"name":"Allergy Immunology Unit"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Tyagi","sequence":"additional","affiliation":[{"name":"Allergy Immunology Unit"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjib","family":"Mondal","sequence":"additional","affiliation":[{"name":"Allergy Immunology 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