Search Ontology:
Human Disease
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
- Term ID
- DOID:0090014
- Synonyms
-
- autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
- autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
- interleukin-7 receptor alpha deficiency
- severe combined immunodeficiency 104
- Definition
- A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. (3)
- References
-
- ICD10CM:D81.2
- MESH:C563822
- MIM:608971
- ORDO:169154
- Ontology
- Human Disease ( DOID:0090014 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models