title: Leukocyte adhesion deficiency-III in an African-American patient.
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.
authors.affiliation: Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia 30322, USA. himalee.sabnis@choa.org
authors.forename: Himalee
authors.initials: H
authors.lastname: Sabnis
authors.forename: Anjali
authors.initials: A
authors.lastname: Kirpalani
authors.forename: John
authors.initials: J
authors.lastname: Horan
authors.forename: Alison
authors.initials: A
authors.lastname: McDowall
authors.forename: Lena
authors.initials: L
authors.lastname: Svensson
authors.forename: Anthony
authors.initials: A
authors.lastname: Cooley
authors.forename: Tara
authors.initials: T
authors.lastname: Merck
authors.forename: Shawn
authors.initials: S
authors.lastname: Jobe
authors.forename: Nancy
authors.initials: N
authors.lastname: Hogg
authors.forename: Michael
authors.initials: M
authors.lastname: Briones
mesh_terms: D016026:Bone Marrow Transplantation; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000628:therapy*; D014184:Transplantation, Homologous; D016896:Treatment Outcome