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 …

Background LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary
immunodeficiency and immune dysregulation syndrome caused by biallelic mutations in the …

Primary immunodeficiencies (PI) are genetic defects of the immune system that result in
chronic, serious, and often life-threatening infections, if not diagnosed and treated. Many …

Background Primary immunodeficiencies (PI), which include more than 450 single-gene
inborn errors of immunity and may affect up to 1% of the population, are genetic disorders …

Background Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of
immunity, which cause high rates of morbidity and mortality mainly among children due to …

Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare
heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been …

Background As the application of next generation sequencing (NGS) is moving to earlier
stages in the diagnostic pipeline for primary immunodeficiencies (PIDs), re-evaluation of its …

Background The number of inherited diseases and the spectrum of clinical manifestations of
primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using …

Spectacular progress has been made in the characterization of human hyper-IgE syndrome
(HIES) over the last 50 years. HIES is a primary immunodeficiency defined as an association …

Predominantly antibody deficiencies (PAD) are a heterogeneous group of disorders
characterized by dysfunctional antibody production, low immunoglobulin levels in serum …