AICDA, activation induced cytidine deaminase, 57379

N. diseases: 265; N. variants: 16
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894324
rs104894324
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.010 GeneticVariation BEFREE Herein, we describe three Turkish siblings with HIGM syndrome who had a homozygous missense mutation (c.70C>T, p.Arg24Trp) in the activation-induced cytidine deaminase gene which results in autosomal recessive HIGM syndrome. 26551569 2015