ZFIN Human Disease: immunodeficiency 24

OBO ID: DOID:0111938

Term Name:	immunodeficiency 24		Search Ontology:
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:	OMIM:615897 ORDO:420573 UMLS_CUI:C4014617
Ontology:	Human Disease ( DOID:0111938 )

Relationships

is a type of:	autosomal recessive disease severe combined immunodeficiency autosomal recessive disease severe combined immunodeficiency Show first 5 Terms

OTHER immunodeficiency 24 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CTPS1	ctps1b ctps1a	Immunodeficiency 24	615897

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None