AICDA, activation induced cytidine deaminase, 57379

N. diseases: 265; N. variants: 16
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 GeneticVariation disease BEFREE AID is mutated in hyper-IgM type 2 (HIGM2) syndrome. 28790320 2017
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 GeneticVariation disease UNIPROT Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate. 27716525 2016
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 Biomarker disease GENOMICS_ENGLAND Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint. 27701145 2016
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 GeneticVariation disease UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 GeneticVariation disease UNIPROT To our knowledge, this is a new AICDA mutation found in HIGM2 patients. 23803409 2013
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 GeneticVariation disease BEFREE To our knowledge, this is a new AICDA mutation found in HIGM2 patients. 23803409 2013
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 GeneticVariation disease UNIPROT Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. 14962793 2004
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 GermlineCausalMutation disease ORPHANET The phenotype observed in HIGM2 patients (and in AID-/- mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses. 11007475 2000
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 GeneticVariation disease UNIPROT The phenotype observed in HIGM2 patients (and in AID-/- mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses. 11007475 2000
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 Biomarker disease BEFREE The phenotype observed in HIGM2 patients (and in AID-/- mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses. 11007475 2000
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 GeneticVariation disease CLINVAR
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 Biomarker disease CTD_human
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.730 CausalMutation disease CLINVAR