Additional diverse findings expand the clinical presentation of DOCK8 deficiency

O Sanal, H Jing, T Ozgur, D Ayvaz… - Journal of clinical …, 2012 - Springer
We describe seven Turkish children with DOCK8 deficiency who have not been previously
reported. Three patients presented with typical features of recurrent or severe cutaneous …

Clinical, immunological and molecular findings of patients with DOCK‐8 deficiency from India

V Gowri, A Chougule, M Gupta, P Taur… - Scandinavian …, 2023 - Wiley Online Library
DOCK8 deficiency affects various cell subsets belonging to both the innate and adaptive
immune systems. Clinical diagnosis is challenging, as many cases present with severe …

Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis

E Janssen, E Tsitsikov, W Al-Herz, G Lefranc… - Clinical …, 2014 - Elsevier
DOCK8 deficiency is a primary immunodeficiency characterized by recurrent sinopulmonary
infections, dermatitis with cutaneous infections, elevated serum IgE levels, eosinophilia, and …

DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136 patients

SE Aydin, SS Kilic, C Aytekin, A Kumar… - Journal of clinical …, 2015 - Springer
Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined
immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and …

Insights into immunity from clinical and basic science studies of DOCK 8 immunodeficiency syndrome

HC Su, H Jing, P Angelus… - Immunological reviews, 2019 - Wiley Online Library
DOCK 8 immunodeficiency syndrome (DIDS) is a progressive combined immunodeficiency
that can be distinguished from other combined immunodeficiencies or …

Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus

Z Jouhadi, K Khadir, F Ailal, K Bouayad, S Nadifi… - …, 2014 - publications.aap.org
Dedicator of cytokinesis 8 (DOCK8) deficiency is an innate error of adaptive immunity
characterized by recurrent infections with viruses, bacteria, and fungi, typically high serum …

Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency

SE Aydin, AF Freeman, W Al-Herz, HA Al-Mousa… - The Journal of Allergy …, 2019 - Elsevier
Background Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a
combined immunodeficiency with eczema, recurrent bacterial and viral infections, and …

Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen

H Boztug, C Karitnig-Weiß, B Ausserer… - Pediatric hematology …, 2012 - Taylor & Francis
Dedicator of cytokinesis 8 protein (DOCK8) deficiency is a combined immunodeficiency
disorder characterized by an expanding clinical picture with typical features of recurrent …

DOCK2 deficiency in a patient with hyper IgM phenotype

Z Alizadeh, M Mazinani, L Shakerian, M Nabavi… - Journal of Clinical …, 2018 - Springer
To the Editor, Combined immunodeficiencies (CIDs) consist of a group of disorders
characterized by defects in the quantity and/or function of T cells along with defects in …

DOCK8 deficiency

HC Su, H Jing, Q Zhang - Annals of the New York Academy of …, 2011 - Wiley Online Library
The discovery that loss‐of‐function mutations in the gene DOCK8 are responsible for most
forms of autosomal recessive hyper‐IgE syndrome and some forms of combined …