Predominantly Antibody Deficiency

Gene: AICDA

Green List (high evidence)

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:004081

Created: 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

• 22992148
• 12910268
• 14564357
• 15893695
• 32423680
• 35570134
• 17560278

Green List (high evidence)

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 a.m. | Last Modified: 14 Aug 2021, 2 a.m.

Panel Version: 0.80

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency with hyper-IgM, type 2, MIM# 605258

Publications

• 11007475