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Leukocyte adhesion deficiency‐III in an African‐American patient
Author(s) -
Sabnis Himalee,
Kirpalani Anjali,
Horan John,
McDowall Alison,
Svensson Lena,
Cooley Anthony,
Merck Tara,
Jobe Shawn,
Hogg Nancy,
Briones Michael
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22386
Subject(s) - leukocytosis , medicine , blood cancer , leukocyte adhesion deficiency , adhesion , integrin , immunology , regimen , cancer , pathology , cd18 , chemistry , receptor , organic chemistry
Abstract Leukocyte adhesion deficiency‐III (LAD‐III) is a rare disorder characterized by abnormal signaling to β 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. Pediatr Blood Cancer 2010;55:180–182. © 2010 Wiley‐Liss, Inc.