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 |
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 |
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 |
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 |
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 |
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 |
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
|
19575287 |
2009 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |