Combined Immunodeficiency
Gene: LRBA
Over 10 unrelated individuals with LRBA variants displaying immunodeficiency phenotype; one mouse model.
Reported homozygous truncating variants (missense/ nonsense).
Most reported individuals displayed reduced IgG and IgA, autoimmune disorders, hypogammaglobulinaemia and recurrent infections.Created: 5 Aug 2021, 12:10 a.m. | Last Modified: 5 Aug 2021, 12:10 a.m.
Panel Version: 0.268
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700; Normal-decreased CD4 numbers; T cell dysregulation; Low-normal B cells; Reduced IgG and IgA; Recurrent infections; chronic diarrhoea; inflammatory bowel disease; hypogammaglobulinaemia; pneumonitis; autoimmune disorders; thrombocytopaenia
Publications
Gene: lrba has been classified as Green List (High Evidence).
Phenotypes for gene: LRBA were changed from to Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700; Normal-decreased CD4 numbers; T cell dysregulation; Low-normal B cells; Reduced IgG and IgA; Recurrent infections; chronic diarrhoea; inflammatory bowel disease; hypogammaglobulinaemia; pneumonitis; autoimmune disorders; thrombocytopaenia
Publications for gene: LRBA were set to
Mode of inheritance for gene: LRBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: LRBA was added gene: LRBA was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: LRBA was set to Unknown