Term Name: immunodeficiency 22
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
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.
Ontology: Human Disease [DOID:0111937]   ( DOID:0111937 )

Relationships
is a type of: autosomal recessive disease severe combined immunodeficiency