Terminology Service for NFDI4Health
Immunodeficiency with Hyper-IgM Type 2
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http://purl.obolibrary.org/obo/NCIT_C129074
An autosomal recessive immunodeficiency that is caused by mutation(s) in the AICDA gene, single-stranded DNA cytosine deaminase. It is characterized by normal or elevated concentrations of IgM and decreased or absent concentrations of IgG, IgA, and IgE. [ ]
Term info
Label
Immunodeficiency with Hyper-IgM Type 2
Synonyms
- HIGM2
- Immunodeficiency with Hyper-IgM Type 2
Preferred Name
Immunodeficiency with Hyper-IgM Type 2
Semantic Type
Disease or Syndrome
UMLS CUI
C1720956
code
C129074