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Pediatr Blood Cancer. 2010 Jul 15;55(1):180-2. doi: 10.1002/pbc.22386.

Leukocyte adhesion deficiency-III in an African-American patient.

Author information

1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia 30322, USA. himalee.sabnis@choa.org

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.

PMID:
20213844
DOI:
10.1002/pbc.22386
[Indexed for MEDLINE]

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