Autosomal dominant gain-of-function mutations in the PIK3CD gene encoding the catalytic
subunit p110δ of phosphoinositide 3-kinase-δ (PI3K-δ) or autosomal dominant loss-of …

Background Subcutaneous or intravenous immunoglobulin replacement is the mainstay of
treatment for most patients with primary immunodeficiency disease (PID). The purpose of …

Reticular dysgenesis is a human severe combined immunodeficiency that is primarily
characterized by profound neutropenia and lymphopenia. The condition is caused by …

Very Early Onset Inflammatory Bowel Disease (VEO-IBD) represents a cohort of
inflammatory bowel disease (IBD) patients diagnosed before 6 years of age. Unlike IBD …

Long-term prophylactic antibiotics are being widely implemented as primary or adjunctive
therapy in primary immune deficiencies. This practice has transformed clinical outcomes in …

Primary immunodeficiency diseases (PIDs) comprise a group of highly heterogeneous
immune system diseases and around 300 forms of PID have been described to date. Next …

Background Primary immunodeficiency diseases (PIDDs) are inherited disorders of the
immune system. The most severe form, severe combined immunodeficiency (SCID) …

The vast majority of patients suffering from a primary immunodeficiency (PID) have defects in
their T-and/or B-cell compartments. Despite advances in molecular diagnostics, in many …

A recent surge in newly described inborn errors of immune function-related genes that result
in susceptibility to fungal disease has greatly enhanced our understanding of the cellular …

To determine the prevalence and clinical characteristics of patients with in Japan, we
conducted a nationwide survey of primary immunodeficiency disease (PID) patients for the …