Combined Immunodeficiency
Gene: LRBA

LRBA (LPS responsive beige-like anchor protein)
EnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 14 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

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

Created: 5 Aug 2021, 12:10 a.m.
Last Modified: 5 Aug 2021, 12:10 a.m.
Panel version: 0.268

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

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

OMIM

606453

Clinvar variants

Variants in LRBA

Penetrance

None

Publications

Panels with this gene