COVID-19 research
Gene: AICDA
IUIS: AID deficiency. Inheritance - AR (causes IgG and IgA decreased, IgM increased; normal memory B cells but lacking somatic hypermutationand. Associated with bacterial infections, enlarged lymph nodes and germinal centers; autoimmunity), AD (causes IgG absent or decreased, IgA undetected, IgM increased; normal memory. B cells with intact somatic hypermutation. Associated with bacterial infections, enlarged lymph nodes and germinal centers. Mutations uniquely localize to the nuclear export signal.)Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): AICDA .PanelApp HGNC gene symbol check: AICDA . IUIS Disease: AID deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Bacterial infections, enlarged lymph nodes and germinal centers. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgMCreated: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: AID, PanelApp HGNC gene symbol check: AICDA, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Class switch recombination defects (CSR) / HIGM syndromes / CSR defects and Hyper IgM (HIGM) syndromesCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: AICDA, GRID_Gene_Symbol: AICDA, GRID_Transcript_ENS_Community submitted: ENST00000229335, GRID_Transcript_RefSeq: NM_020661.2, GRID_Transcript_ENS_used_on_Production: ENST00000229335Created: 17 Apr 2018, 12:12 p.m.
Comment on list classification: After searching the four sources (UKGTN, Illumina, Radboud and Emory), we have decided that there is a high level of evidence for this gene.Created: 15 Aug 2017, 12:29 p.m.
Phenotypes for gene: AICDA were changed from Hyper IgM syndrome with lymphoid hyperplasia; Primary Immune Deficiencies; Immunodeficiency with hyper-IgM, type 2, 605258; Bacterial infections, enlarged lymph nodes and germinal centers; Predominantly Antibody Deficiencies; Immunodeficiency with hyper-IgM, type 2; CSR defects and Hyper IgM (HIGM) syndromes to Immunodeficiency with hyper-IgM, type 2, OMIM:605258; Hyper IgM syndrome with lymphoid hyperplasia; Primary Immune Deficiencies; Bacterial infections, enlarged lymph nodes and germinal centers; Predominantly Antibody Deficiencies; Immunodeficiency with hyper-IgM, type 2; CSR defects and Hyper IgM (HIGM) syndromes
Source IUIS Classification December 2019 was added to AICDA. Mode of inheritance for gene AICDA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: AICDA was added gene: AICDA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AICDA were set to 27701145; 21700883; 12958596 Phenotypes for gene: AICDA were set to Hyper IgM syndrome with lymphoid hyperplasia; Primary Immune Deficiencies; Immunodeficiency with hyper-IgM, type 2, 605258; Bacterial infections, enlarged lymph nodes and germinal centers; Predominantly Antibody Deficiencies; Immunodeficiency with hyper-IgM, type 2; CSR defects and Hyper IgM (HIGM) syndromes