| Metadata | |
|---|---|
| ID | DOID:0111937 |
| Name | immunodeficiency 22 |
| Definition | A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. https://pubmed.ncbi.nlm.nih.gov/9664084/ |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
IMD22 [EXACT] SCID due to LCK deficiency [EXACT] SCID due to lymphocyte-specific protein tyrosine kinase deficiency [EXACT] severe combined immunodeficiency due to LCK deficiency [EXACT] severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency [EXACT] |
| Parent Relationships |