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VARIANT - TERM ANNOTATION REPORT

RGD ID: 38496681
Species: Homo sapiens
RGD Object: Variant
Symbol: CV951624
Name: NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter)
Acc ID: DOID:0060022
Term: CD40 ligand deficiency
Definition: A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/30681380 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV951624 IAGP 8554872ClinVarClinVar Annotator: match by term: X-linked hyper-IgM syndrome

PMID:18805740 PMID:20591076 PMID:28492532 PMID:8550833 PMID:9746782
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