Combined Immunodeficiency
Gene: CIITA

CIITA (class II major histocompatibility complex transactivator)
EnsemblGeneIds (GRCh38): ENSG00000179583
EnsemblGeneIds (GRCh37): ENSG00000179583
OMIM: 600005, Gene2Phenotype
CIITA is in 6 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

13 individuals of 11 unrelated families; two mouse models

Homozygous and compound heterozygous variants were identified in these individuals (missense, nonsense and splicing) resulting in premature stop codon and truncated protein, or inactive protein.

Affected individuals typically present with sever (recurrent) respiratory and gastrointestinal tract infections and defective MHC II expression in PBMCs.
Created: 22 Jul 2021, 5:03 a.m. | Last Modified: 22 Jul 2021, 5:03 a.m.

Panel Version: 0.216

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920; varied ID; bronchiolitis; pneumonia; severe autoimmune cytopaenia; CD4 T-cell lymphopaenia; hypogammaglobulinemia; absence of antigen-induced immune response; chronic diarrhoea; recurrent respiratory infections; recurrent gastroenteritis; failure to thrive; liver/biliary tract disease

Publications

Created: 22 Jul 2021, 5:03 a.m.
Last Modified: 22 Jul 2021, 5:03 a.m.
Panel version: 0.216

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 A MIM# 209920
varied ID
bronchiolitis
pneumonia
severe autoimmune cytopaenia
CD4 T-cell lymphopaenia
hypogammaglobulinemia
absence of antigen-induced immune response
chronic diarrhoea
recurrent respiratory infections
recurrent gastroenteritis
failure to thrive
liver/biliary tract disease

OMIM

600005

Clinvar variants

Variants in CIITA

Penetrance

None

Publications

Panels with this gene