Combined Immunodeficiency
Gene: RFXAP

RFXAP (regulatory factor X associated protein)
EnsemblGeneIds (GRCh38): ENSG00000133111
EnsemblGeneIds (GRCh37): ENSG00000133111
OMIM: 601861, Gene2Phenotype
RFXAP is in 5 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

9 unique RFXAP variants in 12 unrelated individuals have been reported; one mouse model

The most frequent variant is a deletion c. delG484fsX525 which has been identified in 4 individuals of different origins (North African, Turkish and East Asian).

Typically presents in infancy with recurrent bacterial infections, severe diarrhoea and failure to thrive.
Created: 10 Aug 2021, 5:10 a.m. | Last Modified: 10 Aug 2021, 5:10 a.m.

Panel Version: 0.291

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bare lymphocyte syndrome, type II, complementation group D MIM# 209920; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia

Publications

Created: 10 Aug 2021, 5:10 a.m.
Last Modified: 10 Aug 2021, 5:10 a.m.
Panel version: 0.291

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Bare lymphocyte syndrome, type II, complementation group D MIM# 209920
Low CD4+ T cells
reduced MHC II expression on lymphocytes
Normal-low Ig levels
Failure to thrive
respiratory/gastrointestinal infections
liver/biliary tract disease
diarrhoea
Severe autoimmune cytopaenia
agammaglobulinaemia

OMIM

601861

Clinvar variants

Variants in RFXAP

Penetrance

None

Publications

Panels with this gene