Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE Genetic diagnosis was confirmed in 29 HIgM patients (72.4% CD40 ligand (CD40L) and 24.1% activation-induced cytidine deaminase (AICDA/AID) deficiencies). 31183658 2019
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 Biomarker disease BEFREE A 42-year-old man with hyper-IgM syndrome type 2 caused by activation-induced cytidine deaminase (AID) deficiency developed a severe anaphylactic reaction to intravenous immunoglobulin. 29255996 2018
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE Sanger sequencing was applied to detect pathogenic mutations in CD40L and AID genes causing two most common forms of HIGM, which known as HIGM type 1 and 2, respectively. 30081731 2018
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland. 27142677 2016
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease 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
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE Mutations in the AID gene (AICDA) have been found in patients with autosomal recessive Hyper-IgM (HIGM) syndrome type 2. 23803409 2013
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE In contrast to those with AICDA mutation, small chromosome 1 q42 deletion and unknown genetic defect, the majority (10/14; 71.4%) with CD40L mutations except (Thr254Met) and an ataxia-telangiectasia patient had the severe form of HIGM phenotype. 23538518 2013
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE Herein, we report two siblings of a Tajik family with a HIGM phenotype in which a novel missense mutation in the activation-induced cytidine deaminase (AICDA) gene was detected. 22992148 2012
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 Biomarker disease BEFREE Defects in AID and UNG2 have been shown to result in the primary immunodeficiency hyper-IgM syndrome, leading us to hypothesize that additional, potentially more subtle, DNA repair gene variations may underlie the clinically related antibody deficiencies syndromes IgAD and CVID. 20805886 2010
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 AlteredExpression disease BEFREE These observations led us to conclude that AID expression in developing human B cells is the origin of the mutated IgM(+)IgD(+)CD27(+) B cells present in HIGM1 patients, and we propose that both mice and humans share a latent, AID-dependent pathway for the preimmune diversification of B lymphocytes that is more prominent in chicken, sheep, and rabbits. 19667096 2009
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. 19575287 2009
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 Biomarker disease BEFREE The characteristics of the AD-HIGM2 phenotype indicate that the AID C-terminal region may be involved in DNA repair machinery required for CSR. 15893695 2005
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome. 15372234 2004
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE Mutations of the Activation-Induced Cytidine Deaminase (AID) gene have been found in patients with autosomal recessive hyper-IgM (HIGM) syndrome type 2. 14962793 2004
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE The gene encoding activation-induced cytidine deaminase (AID) is responsible for the autosomal recessive form of hyper-IgM syndrome. 14564357 2003
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 AlteredExpression disease BEFREE In vitro studies showed that the molecular defect responsible for this new HIGM entity (HIGM4) occurs downstream of the AID activity, as the AID gene was induced normally and AID-induced DNA double-strand breaks in the switch micro region of the Ig heavy chain locus were detected during CSR as normal. 12840068 2003
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 GeneticVariation disease BEFREE We herein report mutations in the human counterpart of AID in patients with the autosomal recessive form of hyper-IgM syndrome (HIGM2). 11007475 2000
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.100 Biomarker disease BEFREE Lymphoid hyperplasia was seen in patients with hyper IgM syndrome and normal AID as well as the patients with hyper IgM syndrome and defects in AID. 11112359 2000