Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism.
Leukocyte adhesion deficiency II has been described in only 2 patients; herein we report extensive investigation of another patient. The physical stigmata were detected during prenatal ultrasonographic investigation. Sialyl-Lewis X (sLex) was absent from the surface of polymorphonuclear neutrophils, and cell binding to E- and P-selectin was severely impaired, causing an immunodeficiency. The elevation of peripheral neutrophil counts occurred within several days after birth. A severe hypofucosylation of glycoconjugates bearing fucose in different glycosidic links was present in all cell types investigated, demonstrating that leukocyte adhesion deficiency II is not only a disorder of leukocytes but a generalized inherited metabolic disease affecting the metabolism of fucose.
Marquardt
T
T
Klinik und Poliklinik für Kinderheilkunde, Münster, Germany.
Brune
T
T
Lühn
K
K
Zimmer
K P
KP
Körner
C
C
Fabritz
L
L
van der Werft
N
N
Vormoor
J
J
Freeze
H H
HH
Louwen
F
F
Biermann
B
B
Harms
E
E
von Figura
K
K
Vestweber
D
D
Koch
H G
HG
D002097:C-Reactive Protein / Q000032:analysis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D002846:Chromatography, Affinity; D019040:E-Selectin / Q000378:metabolism; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D005643:Fucose / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007958:Leukocyte Count; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000097:blood / Q000000981:diagnostic imaging / Q000378:metabolism*; D016256:Lewis X Antigen / Q000032:analysis; D008297:Male; D009504:Neutrophils / Q000276:immunology; D019007:P-Selectin / Q000378:metabolism; D010375:Pedigree; D016216:Ultrasonography, Prenatal
D019040:E-Selectin; D016256:Lewis X Antigen; D019007:P-Selectin; D005643:Fucose; D002097:C-Reactive Protein