| Literature DB >> 20213844 |
Himalee Sabnis1, Anjali Kirpalani, John Horan, Alison McDowall, Lena Svensson, Anthony Cooley, Tara Merck, Shawn Jobe, Nancy Hogg, Michael Briones.
Abstract
Leukocyte adhesion deficiency-III (LAD-III) is a rare disorder characterized by abnormal signaling to beta integrins, leading to defective leukocyte adhesion and chemotaxis and platelet aggregation. Here we present the first case of an African-American female infant with this disorder. She had history of multiple infections, bleeding, and leukocytosis since birth. She was successfully treated with allogeneic bone marrow transplant using a reduced intensity-conditioning regimen. Mutations in KINDLIN-3 have been described in LAD-III but the mutations in KINDLIN-3 in her case are unique.Entities:
Mesh:
Year: 2010 PMID: 20213844 DOI: 10.1002/pbc.22386
Source DB: PubMed Journal: Pediatr Blood Cancer ISSN: 1545-5009 Impact factor: 3.167