Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
immunodeficiency 63
Summary
- Synonym
-
- IL2RB deficiency
- IMD63
- immunodeficiency 63 with lymphoproliferation and autoimmunity
- Definition
- A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3.
- Super Class
- T cell and NK cell immunodeficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111997
- Mondo Disease Ontology
- UMLS
- OMIM
Related Genes
