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Disease Ontology Term: immunodeficiency 22

DO ID
DOID:0111937
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 LCK 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
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