immunodeficiency 22

Term ID

DOID:0111937

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. https://pubmed.ncbi.nlm.nih.gov/9664084/

References

• NCI:C176808
• OMIM:615758
• ORDO:280142
• UMLS_CUI:C4014233

Ontology

Human Disease   ( DOID:0111937 )