immunodeficiency 22

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: 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)