Genetic defects in common variable immunodeficiency

A Review of Primary Immunodeficiency Diseases with Skin Manifestations

Introduction: Primary immunodeficiencies (PID) are rare heterogeneous disorders with defects in which one or more components of the immune system are malfunctioning. Clinical presentations of the patients according to type of immunodeficiency are variable. The majority of these patients are susceptible to infections depending on the type of disorder. In these patients, one of the most important...

A 20-YEAR SURVEY OF INFECTIOUS COMPLICATIONS IN 64 PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY

Common variable immunodeficiency (CV ID) is a heterogeneous primary immunodeficiency disorder, characterized by hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. To determine the spectrum of infectious complications in patients with common variable immunodeficiency (CV ID), we reviewed the hospital records of 64 CVID patients, who were diagnosed in Child...

Update on the hyper immunoglobulin M syndromes

The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination (CSR), with or without defects of somatic hypermutation (SHM). They can be classified as defects of signalling through CD40 causing both a humoral immunodeficiency and a susceptibility to opportunistic infections, or intrinsic defects in B ...

Toll-like receptor function in primary B cell defects.

Primary immunodeficiency diseases include more than 150 different genetic defects, classified on the basis of the mutations or physiological defects involved. The first immune defects to be well recognized were those of adaptive immunity affecting B cell function and resulting in hypogammaglobulinemia and defects of specific antibody production; more recently, novel defects of innate immunity h...

Co-existence of Common Variable Immunodeficiency (CVID) with Idiopathic Thrombocytopenic purpura (ITP)