Metadata | |
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ID | DOID:0060760 |
Name | immunodeficiency with hyper-IgM type 4 |
Definition | A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. https://www.ncbi.nlm.nih.gov/pubmed/12840068 |
Xrefs | |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
HIGM4 [EXACT] hyper-IgM syndrome type 4 [EXACT] |
Parent Relationships |
is_a hyper IgM syndrome |