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Definition

Immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence.

Acronym

HIGM1

Synonyms

HIGM
Hyper-IgM syndrome
Hyper-IgM syndrome 1
IHIS
IMD3
Immunodeficiency 3
XHIM
X-linked hyper IgM syndrome
X-linked immunodeficiency with hyper-IgM 1

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.