| Metadata | |
|---|---|
| ID | DOID:0111949 |
| Name | immunodeficiency 36 |
| Definition | A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. https://pubmed.ncbi.nlm.nih.gov/39714594/ |
| Xrefs | |
| Subsets |
NCIthesaurus |
| Synonyms |
activated phosphoinositide 3-kinase delta syndrome 2 [EXACT] IMD36 [EXACT] immunodeficiency-36 with lymphoproliferation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Childhood onset existence starts during some Infantile onset has material basis in some autosomal dominant inheritance |