immunodeficiency 36
Information
- Disease name
- immunodeficiency 36
- Disease ID
- DOID:0111949
- Description
- "A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27221134/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:628
- Cross Reference ID (Disease Ontology)
- MIM:616005
- Cross Reference ID (Disease Ontology)
- NCI:C176703
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C4014934
- Exact Synonym (Disease Ontology)
- activated phosphoinositide 3-kinase delta syndrome 2
- Exact Synonym (Disease Ontology)
- IMD36