COVID-19 researchGene: CD81
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CD81 .PanelApp HGNC gene symbol check: CD81 . IUIS Disease: CD81 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections, may have glomerulonephritis. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 2 Jul 2018, 10:35 a.m.
Keep amber after external expert review until more info on gene and disease association
Created: 27 Jun 2018, 7:15 p.m.
Reviewed and decided to keep amber until more info on gene and disease association.
Created: 11 Jun 2018, 2:18 p.m.
Comment on publications: added publication from OMIM : a single report van Zelm et al. (2010) PMID:20237408 (2010) In a Moroccan girl, born of consanguineous parents, with common variable immunodeficiency-6, van Zelm et al. (2010) identified a homozygous G-to-A transition in intron 6 of the CD81 gene, resulting in use of a cryptic splice site, generation of a frameshift, and premature termination. The CD81-deficient case showed autoimmune and inflammatory complications. Initially, this CD81 mutation was assumed to completely abolish CD81 protein expression, and thought in the absence of expression, CD19 expression was halved as it was thought that it provides docking sites for various signal transduction pathway molecules PMID: 14530327, 20237408. However, it was recently demonstrated by Vences-Catalán et al. (2015) PMID:25739915 that in fact a truncated CD81 protein was produced, both the mutant CD81 and the normal CD19 protein were retained intracellularly, resulting in absent CD81 and CD19 surface expression. However, it was recently demonstrated that in fact a truncated CD81 protein was produced.47 Both the mutant CD81 and the normal CD19 protein were retained intracellularly, resulting in absent CD81 and CD19 surface expression.47
Created: 11 Jun 2018, 2:04 p.m.
Comment on phenotypes: added MIMid from OMIM. Common variable immunodeficiency (CVID) is the largest group of symptomatic primary immune deficiencies; it is characterized by hypogammaglobulinemia, poor response to vaccines and increased susceptibility to infections.
Created: 11 Jun 2018, 1:40 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CD81, PanelApp HGNC gene symbol check: CD81, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Hypogammaglobulinemias / Common variable immunodeficiency disorders (CVID); Predominantly antibody disorders / Hypogammaglobulinemias / Isolated IgG subclass deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CD81, GRID_Gene_Symbol: CD81, GRID_Transcript_ENS_Community submitted: ENST00000263645, GRID_Transcript_RefSeq: NM_004356.3, GRID_Transcript_ENS_used_on_Production: ENST00000263645
Created: 17 Apr 2018, 12:12 p.m.
Source Expert Review Green was added to CD81. Added phenotypes CD81 deficiency; Isolated IgG subclass deficiency; Recurrent infections, may have glomerulonephritis; Common variable immunodeficiency disorders (CVID); hypogammaglobulinaemia; Predominantly Antibody Deficiencies; Immunodeficiency, common variable 6, 613496 for gene: CD81 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: CD81 was added gene: CD81 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD81 were set to 27250108; 32086639; 14530327; 32048120; 20237408 Phenotypes for gene: CD81 were set to CD81 deficiency; Isolated IgG subclass deficiency; Recurrent infections, may have glomerulonephritis; Common variable immunodeficiency disorders (CVID); hypogammaglobulinaemia; Predominantly Antibody Deficiencies; Immunodeficiency, common variable 6, 613496