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immunodeficiency with hyper-IgM, TYPE 2

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.

An autosomal recessive immunodeficiency with hyper-IgM type 2 (HIGM2) results from homozygous or compound heterozygous mutation in the gene encoding activation-induced cytidine deaminase (AICDA; 605257) on chromosome 12p13.
Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections.

OTHER NAME(S): HYPER-IgM SYNDROME 2

ABREVIATION(S):
HIGM2

TYPE: immunodeficiency

DNAtraffic protein(s) related to disease: AICDA (AID)

OMIM: 605258

Last modification date: July 6, 2011