Variant: rs104894320 

    present in Gene: AICDA
    present in Chromosome: 12
    Position on Chromosome: 8605404
    Alleles of this Variant: A/G

rs104894320 in AICDA gene and Hyper-IgM Immunodeficiency Syndrome, Type 2 PMID 11007475 2000 Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).

PMID 23803409 2013 A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome.

PMID 14962793 2004 Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.

PMID 27716525 2016 Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate.

PMID 26545377 2016 Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.