Nucleotide metabolism disorders
Gene: AICDA
Both AR and AD association classified DEFINITIVE by Antibody Deficiency ClinGen GCEP on 28/08/2024
The presence of an autoimmune disease in affected individuals has only been associated in the recessive form suggesting that AR is more severe compared to AD.
AR: https://search.clinicalgenome.org/CCID:004080
AD: https://search.clinicalgenome.org/CCID:004081Created: 16 Sep 2024, 2:14 a.m. | Last Modified: 16 Sep 2024, 2:14 a.m.
Panel Version: 1.2013
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
hyper-IgM syndrome type 2 MONDO:0011528
Publications
Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. Well established gene-disease association.Created: 14 Aug 2021, 2:02 a.m. | Last Modified: 14 Aug 2021, 2:02 a.m.
Panel Version: 0.8809
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency with hyper-IgM, type 2, MIM# 605258
Publications
gene: AICDA was added gene: AICDA was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AICDA were set to 10373455; 21700883; 14962793 Phenotypes for gene: AICDA were set to hyper-IgM syndrome type 2 MONDO:0011528; Disorders of ectonucleotide and nucleic acid metabolism