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immunodeficiency with hyper-IgM, TYPE 5 (HIGM5)

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 signaling through CD40 causing both a humoral immunodeficiency and a susceptibility to opportunistic infections, or intrinsic defects in B cells of the mechanism of CSR resulting in a pure humoral immunodeficiency. A HIGM picture can also be seen as part of generalized defects of DNA repair and in antibody deficiency syndromes, such as common variable immunodeficiency. CD40 signaling defects may require corrective therapy with bone marrow transplantation. Gene therapy, a potential curative approach in the future, currently remains a distant prospect. Those with a defective CSR mechanism generally do well on immunologoblulin replacement therapy. Complications may include autoimmunity (e.g. Coombs-positive hemolytic anemia), chronic liver disease, lymphoid hyperplasia and, in some cases, a predisposition to lymphoid malignancy.

HIGM5 is caused by mutation in the gene encoding uracil-DNA glycosylase (UNG; MIM.191525) on chromosome 12q23-q24.1. HIGM5 is inherited as an autosomal recessive disease.
Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.

OTHER NAME(S): HYPER-IgM SYNDROME 5

ABREVIATION(S):
HIGM5

TYPE: immunodeficiency

Related patway(s): base excision repair (BER)

DNAtraffic protein(s) related to disease: UNG

OMIM: 608106

Last modification date: July 30, 2011