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Metadata
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

GARD:10580

MESH:C564277

NCI:C564277

OMIM:608184

ORDO:101091

UMLS_CUI:C1842413

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

HIGM4 [EXACT]

hyper-IgM syndrome type 4 [EXACT]

Parent Relationships

is_a hyper IgM syndrome

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