| Metadata | |
|---|---|
| ID | DOID:0111984 |
| Name | immunodeficiency 58 |
| Definition | A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. https://pubmed.ncbi.nlm.nih.gov/27647349/, https://pubmed.ncbi.nlm.nih.gov/29479355/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
IMD58 [EXACT] severe combined immunodeficiency due to CARMIL2 deficiency [EXACT] |
| Parent Relationships |