Search Ontology:
Human Disease

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
  • MIM:615758
  • NCI:C176808
  • ORDO:280142
  • UMLS_CUI:C4014233
Ontology
Human Disease   ( DOID:0111937 )
Relationships
is a type of
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Genes Involved
Zebrafish Models