immunodeficiency 22 (DOID:0111937)
Alliance: disease page
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
Alt IDs: OMIM:615758, NCI:C176808, ORDO:280142, UMLS_CUI:C4014233
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.