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 …

DOCK8 deficiency: insights into pathophysiology, clinical features and management

CM Biggs, S Keles, TA Chatila - Clinical Immunology, 2017 - Elsevier
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency
that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending …

Practice parameter for the diagnosis and management of primary immunodeficiency

FA Bonilla, DA Khan, ZK Ballas, J Chinen… - Journal of Allergy and …, 2015 - Elsevier
The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

KR Engelhardt, ME Gertz, S Keles, AA Schäffer… - Journal of Allergy and …, 2015 - Elsevier
Background Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined
immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome …

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

A Sassi, S Lazaroski, G Wu, SM Haslam… - Journal of allergy and …, 2014 - Elsevier
Background Recurrent bacterial and fungal infections, eczema, and increased serum IgE
levels characterize patients with the hyper-IgE syndrome (HIES). Known genetic causes for …

An update on the hyper-IgE syndromes

PFK Yong, AF Freeman, KR Engelhardt… - Arthritis research & …, 2012 - Springer
The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of
primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by …

Clinical, immunological, and genetic features in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-like syndrome

M Jamee, M Zaki-Dizaji, B Lo, H Abolhassani… - The Journal of Allergy …, 2020 - Elsevier
Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
syndrome is a rare inborn error of immunity caused by mutations in the forkhead box P3 …

Dedicator of cytokinesis 8–deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells

SG Tangye, B Pillay, KL Randall, DT Avery… - Journal of Allergy and …, 2017 - Elsevier
Background Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency
caused by autosomal recessive loss-of-function mutations in DOCK8. This disorder is …

Dedicator of cytokinesis 8–deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells

E Janssen, H Morbach, S Ullas, JM Bannock… - Journal of allergy and …, 2014 - Elsevier
Background Dedicator of cytokinesis 8 (DOCK8) deficiency is typified by recurrent infections,
increased serum IgE levels, eosinophilia, and a high incidence of allergic and autoimmune …

Hyper-IgE syndromes and the lung

AF Freeman, KN Olivier - Clinics in chest medicine, 2016 - chestmed.theclinics.com
IgE is a type of antibody linked with host defense against parasitic infection. However, in
most countries with a low incidence of parasitic infection, high IgE is more commonly …