Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Ba45a264d99411efd9cd29536002649b5> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Ba45a264d99411efd9cd29536002649b5 NCIT_P378 "NCI" @default.
- Ba45a264d99411efd9cd29536002649b5 type Axiom @default.
- Ba45a264d99411efd9cd29536002649b5 annotatedProperty IAO_0000115 @default.
- Ba45a264d99411efd9cd29536002649b5 annotatedSource NCIT_C4689 @default.
- Ba45a264d99411efd9cd29536002649b5 annotatedTarget "A rare immunodeficiency with an autosomal recessive pattern of inheritance. It is caused by mutation in the ITGB2 gene on chromosome 21 which codes for the beta subunit of beta-2 integrin (CD18). The mutation results in significantly reduced or absent expression of CD18 on the surface of leukocytes which impairs their ability to migrate and interact with antigens. Initial clinical signs include omphalitis and delayed separation of the umbilical cord. The clinical course is marked by recurrent bacterial and fungal infection without pus formation. In instances where there is < 1% expression of CD18, prognosis is dismal with a high likelihood for life-threatening infection within the first year of life." @default.