| Metadata | |
|---|---|
| ID | DOID:0111951 |
| Name | immunodeficiency 40 |
| Definition | A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. https://pubmed.ncbi.nlm.nih.gov/26083206/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:1197479002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
DOCK2 deficiency [EXACT] IMD40 [EXACT] |
| Parent Relationships |