Predominantly Antibody Deficiency
Gene: CD19
More than 5 unrelated families reported. Clinical features include increased susceptibility to infection, hypogammaglobulinaemia, and normal numbers of mature B cells in blood, indicating a B-cell antibody-deficient immunodeficiency disorder.Created: 9 Aug 2021, 12:32 a.m. | Last Modified: 9 Aug 2021, 12:32 a.m.
Panel Version: 0.74
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 3, MIM# 613493
Publications
Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).Created: 21 Jul 2020, 1:48 a.m. | Last Modified: 21 Jul 2020, 1:48 a.m.
Panel Version: 0.40
Gene: cd19 has been classified as Green List (High Evidence).
Phenotypes for gene: CD19 were changed from to Immunodeficiency, common variable, 3, MIM# 613493
Publications for gene: CD19 were set to
Mode of inheritance for gene: CD19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CD19 was added gene: CD19 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD19 was set to Unknown