Abstract Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency
disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or …

During the last decades, the study of primary immunodeficiencies (PIDs) has contributed
tremendously to unravel novel pathways involved in a variety of immune responses. Many of …

Background Predominantly antibody deficiencies (PADs) are the most common primary
immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate …

Abstract Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-
glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1 …

Purpose X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by
Bruton's tyrosine kinase (BTK) gene defect. XLA patients have absent or reduced number of …

Hyper-immunoglobulin M syndrome is an X-linked primary immunodeficiency disease
caused by mutations in the CD40 ligand gene. The CD40 ligand has been recently …

Chronic granulomatous disease (CGD) is the prototypic functional neutrophil disorder
caused by genetic defects in one of the five genes encoding the superoxide-generating …

Abstract Background: Hyper-immunoglobulin M (HIGM) syndrome is a rare heterogeneous
group of primary immunodeficiency disorders characterized by low or absent serum levels of …

Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency disease
due to impaired Fas-Fas ligand apoptotic pathway. It is characterized by chronic …

Inborn errors of metabolism consist of a heterogeneous group of disorders with various
organ systems manifestations, and some metabolic diseases also cause immunological …