| Metadata | |
|---|---|
| ID | DOID:0111954 |
| Name | immunodeficiency 60 |
| Definition | A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. https://pubmed.ncbi.nlm.nih.gov/28530713/ |
| Xrefs | |
| Synonyms |
BACH2-related immunodeficiency and autoimmunity [EXACT] BRIDA [EXACT] IMD60 [EXACT] |
| Parent Relationships |