Search Ontology:
Human Disease

immunodeficiency 24

Term ID
DOID:0111938
Synonyms
  • IMD24
  • SCID due to CTPS1 deficiency
  • severe combined immunodeficiency due to CTPS1 deficiency
Definition
A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. https://pubmed.ncbi.nlm.nih.gov/24870241/
References
Ontology
Human Disease   ( DOID:0111938 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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