Primary immunodeficiencies (PIDs), a heterogenous group of inborn errors of immunity, are
predetermined at birth but may evolve with age, leading to a variable clinical and laboratory …

Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting
children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis …

Since the arrival of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in
December 2019, its characterization as a novel human pathogen, and the resulting …

Background Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of
immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping …

Inborn errors of immunity (IEIs) are immunological disorders characterized by variable
susceptibility to infections, immune dysregulation and/or malignancies, as a consequence of …

The understanding of immune dysregulation in many different diseases continues to grow.
There is increasing evidence that altered microbiome and gut barrier dysfunction contribute …

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a
combined immunodeficiency caused by gain-of-function mutations in the CXC chemokine …

Objective The aim of this study was to investigate the prevalence of cancer and associating
clinical, immunological, and genetic factors in a German cohort of patients with common …

Patients with inborn errors of immunity (IEI) are susceptible to developing a severe infection-
related clinical phenotype, but the clinical consequences of immune dysregulation …

Monogenic immune dysregulation diseases (MIDD) are caused by defective
immunotolerance. This study was designed to increase knowledge on the prevalence and …