ZFIN Human Disease: immunodeficiency 26

OBO ID: DOID:0111961

Term Name:	immunodeficiency 26		Search Ontology:
Synonyms:	IMD26 immunodeficiency 26, with or without neurologic abnormalities SCID due to DNA-PKcs deficiency severe combined immunodeficiency due to DNA-PKcs deficiency
Definition:	A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. (2)
References:	NCI:C176795 OMIM:615966 ORDO:317425 UMLS_CUI:C4014833
Ontology:	Human Disease ( DOID:0111961 )

Relationships

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

OTHER immunodeficiency 26 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PRKDC	prkdc	Immunodeficiency 26, with or without neurologic abnormalities	615966

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None