DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

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dc.contributor.authorAydin S.E.
dc.contributor.authorKilic S.S.
dc.contributor.authorAytekin C.
dc.contributor.authorKumar A.
dc.contributor.authorPorras O.
dc.contributor.authorKainulainen L.
dc.contributor.authorKostyuchenko L.
dc.contributor.authorGenel F.
dc.contributor.authorKütükcüler N.
dc.contributor.authorKaraca N.
dc.contributor.authorGonzalez-Granado L.
dc.contributor.authorAbbott J.
dc.contributor.authorAl-Zahrani D.
dc.contributor.authorRezaei N.
dc.contributor.authorBaz Z.
dc.contributor.authorThiel J.
dc.contributor.authorEhl S.
dc.contributor.authorMarodi L.
dc.contributor.authorOrange J.S.
dc.contributor.authorSawalle-Belohradsky J.
dc.contributor.authorKeles S.
dc.contributor.authorHolland S.M.
dc.contributor.authorSanal Ö.
dc.contributor.authorAyvaz D.C.
dc.contributor.authorTezcan I.
dc.contributor.authorAl-Mousa H.
dc.contributor.authorAlsum Z.
dc.contributor.authorHawwari A.
dc.contributor.authorMetin A.
dc.contributor.authorMatthes-Martin S.
dc.contributor.authorHönig M.
dc.contributor.authorSchulz A.
dc.contributor.authorPicard C.
dc.contributor.authorBarlogis V.
dc.contributor.authorGennery A.
dc.contributor.authorIfversen M.
dc.contributor.authorvan Montfrans J.
dc.contributor.authorKuijpers T.
dc.contributor.authorBredius R.
dc.contributor.authorDückers G.
dc.contributor.authorAl-Herz W.
dc.contributor.authorPai S.-Y.
dc.contributor.authorGeha R.
dc.contributor.authorNotheis G.
dc.contributor.authorSchwarze C.-P.
dc.contributor.authorTavil B.
dc.contributor.authorAzik F.
dc.contributor.authorBienemann K.
dc.contributor.authorGrimbacher B.
dc.contributor.authorHeinz V.
dc.contributor.authorGaspar H.B.
dc.contributor.authorAydin R.
dc.contributor.authorHagl B.
dc.contributor.authorGathmann B.
dc.contributor.authorBelohradsky B.H.
dc.contributor.authorOchs H.D.
dc.contributor.authorChatila T.
dc.contributor.authorRenner E.D.
dc.contributor.authorSu H.
dc.contributor.authorFreeman A.F.
dc.contributor.authorEngelhardt K.
dc.contributor.authorAlbert M.H.
dc.date.accessioned2019-10-26T21:22:45Z
dc.date.available2019-10-26T21:22:45Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractMutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and optimal therapeutic management have not yet been clearly defined. In an international retrospective survey of patients with DOCK8 mutations, focused on clinical presentation and therapeutic measures, a total of 136 patients with a median follow-up of 11.3 years (1.3–47.7) spanning 1693 patient years, were enrolled. Eczema, recurrent respiratory tract infections, allergies, abscesses, viral infections and mucocutaneous candidiasis were the most frequent clinical manifestations. Overall survival probability in this cohort [censored for hematopoietic stem cell transplantation (HSCT)] was 87 % at 10, 47 % at 20, and 33 % at 30 years of age, respectively. Event free survival was 44, 18 and 4 % at the same time points if events were defined as death, life-threatening infections, malignancy or cerebral complications such as CNS vasculitis or stroke. Malignancy was diagnosed in 23/136 (17 %) patients (11 hematological and 9 epithelial cancers, 5 other malignancies) at a median age of 12 years. Eight of these patients died from cancer. Severe, life-threatening infections were observed in 79/136 (58 %); severe non-infectious cerebral events occurred in 14/136 (10 %). Therapeutic measures included antiviral and antibacterial prophylaxis, immunoglobulin replacement and HSCT. This study provides a comprehensive evaluation of the clinical phenotype of DOCK8 deficiency in the largest cohort reported so far and demonstrates the severity of the disease with relatively poor prognosis. Early HSCT should be strongly considered as a potential curative measure. © 2015, Springer Science+Business Media New York.en_US
dc.description.sponsorshipNational Institute of Allergy and Infectious Diseases, NIAID National Institutes of Health, NIHen_US
dc.identifier.doi10.1007/s10875-014-0126-0en_US
dc.identifier.endpage198en_US
dc.identifier.issn0271-9142
dc.identifier.issue2en_US
dc.identifier.pmid25627830en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage189en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-014-0126-0
dc.identifier.urihttps://hdl.handle.net/11454/16997
dc.identifier.volume35en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer New York LLCen_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectcombined immunodeficiencyen_US
dc.subjectDOCK8 deficiencyen_US
dc.subjecthyper-IgE syndromeen_US
dc.subjectnatural outcomeen_US
dc.titleDOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patientsen_US
dc.typeArticleen_US

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