OBO ID: DOID:0111937
Term Name: immunodeficiency 22 Search Ontology:
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 LCK on chromosome 1p35.2. https://pubmed.ncbi.nlm.nih.gov/9664084/
References:
Ontology: Human Disease   (DOID:0111937)
OTHER immunodeficiency 22 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LCK ?Immunodeficiency 22 615758
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None