Search
hyper-IgM immunodeficiency syndrome type 2 (HIGM2)
Pathology:
- absence of Ig class switch recombination
- lack of Ig somatic hypermutations
- lymph node hyperplasia caused by the presence of giant germinal center
Genetics:
- autosomal recessive
- associated with defects in AICDA gene
Clinical manifestations:
- profound susceptibility to bacterial infections
Laboratory:
- normal or elevated serum IgM levels
- absence of serum IgG, serum IgA, & serum IgE
General
hyper-IgM immunodeficiency syndrome (HIGM)
Database Correlations
OMIM 605258
References
OMIM :accession 605258