Class Switch Recombination Process in Common Variable Immunodeficiency

onychomadesis in a patient with immunoglobulin class switch recombination deficiency

immunoglobulin class switch recombination deficiencies (ig csr deficiencies) or hyper igm syndromes (higm) are a group of primary immunodeficiency diseases, characterized by defective cd40 signaling of b cells resulting into a csr and a somatic hypermutation. the affected patients are characterized with reduced serum levels of igg and iga, and normal or elevated level of igm, which lead to incr...

Interallelic Class Switch Recombination

Immunoglobulin class-switch recombination deficiencies

Immunoglobulin class-switch recombination deficiencies (Ig-CSR-Ds) are rare primary immunodeficiencies characterized by defective switched isotype (IgG/IgA/IgE) production. Depending on the molecular defect in question, the Ig-CSR-D may be combined with an impairment in somatic hypermutation (SHM). Some of the mechanisms underlying Ig-CSR and SHM have been described by studying natural mutants ...

Common variable immunodeficiency.

We describe a patient with common variable immunodeficiency who three times presented an anaphylactic reaction after intravenous immunoglobulin administration. These reactions were attributed to the total absence of IgG 2, 3 and 4.

Common variable immunodeficiency.

Common variable immunodeficiency (CVID) is a form of severe antibody deficiency with an estimated prevalence of 1 in 25,000 to 1 in 100,000. The disorder apparently results from currently undefined immune deregulations resulting in failed B-cell differentiation with impaired secretion of immunoglobulins. A 5-year female presented with fever, cough and shortness of breath at rest. Past medical h...