Disorders of immune dysregulation
Gene: IL2RA
IL2RA (interleukin 2 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000134460
EnsemblGeneIds (GRCh37): ENSG00000134460
OMIM: 147730, Gene2Phenotype
IL2RA is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000134460
EnsemblGeneIds (GRCh37): ENSG00000134460
OMIM: 147730, Gene2Phenotype
IL2RA is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Immunodeficiency-41 is a disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation.
At least 4 unrelated families reported.Created: 16 Mar 2022, 9:45 p.m. | Last Modified: 16 Mar 2022, 9:45 p.m.
Panel Version: 0.11480
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 147730
- Clinvar variants
- Variants in IL2RA
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IL2RA was added gene: IL2RA was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IL2RA was set to Unknown