In the past few years, several genes were shown to be implicated in various forms of the
Hyper Immunoglobulin E syndrome. The present study is the first to describe a cohort of …

Воспалительные заболевания кишечника (ВЗК), включающие язвенный колит (ЯК),
болезнь Крона (БК) и недифференцированный колит, представляют серьезную …

Dementia is defined as memory loss and other cognitive decline and it severely influences
daily life. Alzheimer's disease (AD) is the most common cause of dementia. Dedicator of …

Neutrophil chemotactic defects have been reported previously in patients with hyper-IgE
syndrome. Bi-allelic mutations in dedicator of cytokinesis 8 (DOCK8) gene usually cause an …

Antiviral resistance frequently complicates the treatment of herpes simplex virus (HSV)
infections in immunocompromised patients. Here we present the case of an adolescent boy …

DOCK8 is a Cdc42-specific guanine-nucleotide exchange factor that is essential for
development and functions of various subsets of leukocytes in innate and acquired immune …

This study investigated the association between autoimmunity and immunodeficiency in
pediatric patients, focusing on the case of a 15-year-old female diagnosed with juvenile …

Hyper IgE syndromes (HIES) is a heterogeneous group of Inborn Errors of Immunity
characterized by eczema, recurrent skin and lung infections associated with eosinophilia …

Abstract The Dedicator of Cytokinesis (DOCK) family (DOCK1− 11) of genes are essential
mediators of cellular migration, growth, and fusion in a variety of cell types and tissues …

T-cell receptor excision circles (TREC)/Kappa-deleting recombination excision circles
(KREC) assay has been recently recognized for detecting patients with primary (T-and/or B …