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