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Summary Literature (0)
DOID:0111937 - immunodeficiency 22

Disease Ontology 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.

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,

Xenbase Genes : lck



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), severe combined immunodeficiency (is_a)