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hyper-IgM syndrome type 1

Disease Summary
Associated Targets (5)
Tbio

4

Tchem

1


GARD Rare
Mondo Description Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0010626:  hyper-IgM syndrome type 1
GARD:0000073: 
NCIT:C61244: 
Orphanet:101088: 
SCTID:403835002: 
UMLS:C0398689: 
Wikidata:Q3508611: