Immunodeficiency 22
Disease ID: disease_node_13321
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| Dbxref | MIM:615758, NCI:C176808, ORDO:280142, UMLS_CUI:C4014233 |
|---|---|
| Subclassof | DOID_0050737, DOID_627 |
| Data Source | DOID |
| Synonyms | IMD22, SCID due to LCK deficiency, SCID due to lymphocyte-specific protein tyrosine kinase deficiency, severe combined immunodeficiency due to LCK deficiency, severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency |
| Doid Label | immunodeficiency 22 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13321 |
| Doid Id | DOID_0111937 |
| Label | Immunodeficiency 22 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)