| Metadata | |
|---|---|
| ID | DOID:0111949 |
| Name | immunodeficiency 36 |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/27221134/ |
| Xrefs | |
| Subsets |
NCIthesaurus |
| Synonyms |
activated phosphoinositide 3-kinase delta syndrome 2 [EXACT] IMD36 [EXACT] |
| Parent Relationships |