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hyper-IgM immunodeficiency syndrome type1; X-linked hyper IgM syndrome (HIGM1)
Pathology:
- no lymphoid follicles
Genetics:
- X-linked
- associated with defects in CD40L
Clinical manifestations:
- affected males present at an early age (usually within the 1st year of life)
- recurrent bacterial infections & opportunistic infections, including Pneumocystis carinii pneumonia & intractable diarrhea due to cryptosporidium infection
Laboratory:
- normal or elevated serum IgM levels
- decrease amounts of serum IgG, serum IgA, & serum IgE
Complications:
- mortality 10% before adolescence
Management:
- intravenous immunoglobulin
General
hyper-IgM immunodeficiency syndrome (HIGM)
Database Correlations
OMIM 308230
References
OMIM :accession 308230