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hyper-IgM immunodeficiency syndrome type 3 (HIGM3)
Pathology:
- absence of Ig class switch recombination at a DNA precleavage step
- inability to mount an antibody-specific immune response
- lack of germinal center formation
- macrophages may be defective
Genetics:
- autosomal recessive
- associated with defects in CD40
Clinical manifestations:
- susceptibility to bacterial infections & opportunistic infections
General
hyper-IgM immunodeficiency syndrome (HIGM)
Database Correlations
OMIM 606843
References
OMIM :accession 606843