Term Name: | immunodeficiency with hyper-IgM type 4 |
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Synonyms: | HIGM4, hyper-IgM syndrome 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. |
Ontology: | Human Disease [DOID:0060760] ( DOID:0060760 ) |