Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency

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dc.contributor.authorHaskologlu, Sule
dc.contributor.authorBal, Sevgi Kostel
dc.contributor.authorIslamoglu, Candan
dc.contributor.authorAytekin, Caner
dc.contributor.authorGuner, Sukru
dc.contributor.authorSevinc, Selin
dc.contributor.authorKeles, Sevgi
dc.date.accessioned2024-02-23T14:24:34Z
dc.date.available2024-02-23T14:24:34Z
dc.date.issued2020
dc.departmentNEÜen_US
dc.description.abstractBiallelic mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a progressive combined immunodeficiency (CID) characterized by susceptibility to severe viral skin infections, atopic diseases, recurrent respiratory infections, and malignancy. Hematopoietic stem cell transplantation (HSCT) is only curative treatment for the disease. However, there is limited information about long-term outcome of HSCT and its effect to protect against cancer development in DOCK8-deficient patients. In this study, we retrospectively evaluated clinical and immunologic characteristics of 20 DOCK8-deficient patients and outcome of 11 patients who underwent HSCT. We aimed to report the experience of our center and the result of the largest transplantation series of DOCK8 deficiency in our country. Median follow-up time is 71 months (min-max: 16-172) in all patients and 48 months (min-max: 5-84) in transplanted patients. Atopic dermatitis (18/20), recurrent respiratory tract infections (17/20), and food allergy (14/20) were the most frequent clinical manifestations. Failure to thrive (13/20), liver problems (12/20), bronchiectasis (11/20), chronic diarrhea (10/21), and autism spectrum disorders (3/20) were remarkable findings in our series. Elevated IgE level (20/20) and eosinophilia (17/20), low IgM level (15/20), and decreased CD3+ T (10/20) and CD4+ T (11/20) cell count were prominent laboratory findings. HSCT was performed in 11 patients. All patients achieved adequate engraftment and showed improvement in their clinical and immunologic findings. Atopic dermatitis and food allergies improved in all patients, and their dietary restriction was stopped except one patient who was transplanted recently. The frequency of infections was decreased. The overall survival is 91% in HSCT-received patients and 80% in all. HSCT at the earliest possible period with most suitable donor- and patient-specific appropriate conditioning regimen and GvHD prophylaxis is lifesaving for DOCK8 deficiency cases.en_US
dc.identifier.doi10.1111/pai.13236
dc.identifier.endpage527en_US
dc.identifier.issn0905-6157
dc.identifier.issn1399-3038
dc.identifier.issue5en_US
dc.identifier.pmid32108967en_US
dc.identifier.scopus2-s2.0-85081352789en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage515en_US
dc.identifier.urihttps://doi.org/10.1111/pai.13236
dc.identifier.urihttps://hdl.handle.net/20.500.12452/14011
dc.identifier.volume31en_US
dc.identifier.wosWOS:000562523300001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofPediatric Allergy And Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectClinicen_US
dc.subjectDock8 Deficiencyen_US
dc.subjectFollow-Upen_US
dc.subjectHematopoietic Stem Cell Transplantationen_US
dc.subjectImmunological Featuresen_US
dc.titleClinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiencyen_US
dc.typeArticleen_US

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