Correction of Leukocyte Adhesion Deficiency Type II With Oral Fucose

Blood ◽  
1999 ◽  
Vol 94 (12) ◽  
pp. 3976-3985 ◽  
Author(s):  
Thorsten Marquardt ◽  
Kerstin Lühn ◽  
Geetha Srikrishna ◽  
Hudson H. Freeze ◽  
Erik Harms ◽  
...  

Abstract We describe a simple, noninvasive, and effective therapy for leukocyte adhesion deficiency type II (LAD II), a rare inherited disorder of fucose metabolism. This disorder leads to an immunodeficiency caused by the absence of carbohydrate-based selectin ligands on the surface of neutrophils as well as to severe psychomotor and mental retardation. The fucosylation defect in LAD II fibroblasts can be corrected by addition of L-fucose to the culture medium. This prompted us to initiate dietary fucose therapy on a patient with LAD II. Oral supplementation of fucose in this patient induced the expression of fucosylated selectin ligands on neutrophils and core fucosylation of serum glycoproteins. During 9 months of treatment, infections and fever disappeared, elevated neutrophil counts returned to normal, and psychomotor capabilities improved.

Blood ◽  
1999 ◽  
Vol 94 (12) ◽  
pp. 3976-3985 ◽  
Author(s):  
Thorsten Marquardt ◽  
Kerstin Lühn ◽  
Geetha Srikrishna ◽  
Hudson H. Freeze ◽  
Erik Harms ◽  
...  

We describe a simple, noninvasive, and effective therapy for leukocyte adhesion deficiency type II (LAD II), a rare inherited disorder of fucose metabolism. This disorder leads to an immunodeficiency caused by the absence of carbohydrate-based selectin ligands on the surface of neutrophils as well as to severe psychomotor and mental retardation. The fucosylation defect in LAD II fibroblasts can be corrected by addition of L-fucose to the culture medium. This prompted us to initiate dietary fucose therapy on a patient with LAD II. Oral supplementation of fucose in this patient induced the expression of fucosylated selectin ligands on neutrophils and core fucosylation of serum glycoproteins. During 9 months of treatment, infections and fever disappeared, elevated neutrophil counts returned to normal, and psychomotor capabilities improved.


Blood ◽  
2000 ◽  
Vol 95 (11) ◽  
pp. 3641-3643 ◽  
Author(s):  
Amos Etzioni ◽  
Michela Tonetti

FEBS Letters ◽  
1998 ◽  
Vol 429 (3) ◽  
pp. 274-278 ◽  
Author(s):  
Laura Sturla ◽  
Amos Etzioni ◽  
Angela Bisso ◽  
Davide Zanardi ◽  
Giovanni De Flora ◽  
...  

2013 ◽  
Vol 1 (8) ◽  
pp. 244-246
Author(s):  
Thomas Hays ◽  
Elizabeth Feuille ◽  
Edith Schussler ◽  
Charlotte Cunningham-Rundles ◽  
Peter Midulla

2019 ◽  
Vol 44 (2) ◽  
pp. 206-209
Author(s):  
Yöntem Yaman ◽  
Sultan Aydin Köker ◽  
Fahri Yüce Ayhan ◽  
Ferah Genel ◽  
Can Acıpayam ◽  
...  

Blood ◽  
2001 ◽  
Vol 97 (1) ◽  
pp. 330-332 ◽  
Author(s):  
Kerstin Lühn ◽  
Thorsten Marquardt ◽  
Erik Harms ◽  
Dietmar Vestweber

Abstract Leukocyte adhesion deficiency type II (LADII) is a rare inherited disorder of fucose metabolism. Patients with LADII lack fucosylated glycoconjugates, including the carbohydrate ligands of the selectins, leading to an immunodeficiency caused by the lack of selectin-mediated leukocyte-endothelial interactions. A simple and effective therapy has recently been described for LADII, based on the administration of oral fucose. Parallel to this treatment the lack of E- and P-selectin ligands on neutrophils was corrected, and high peripheral neutrophil counts were reduced to normal levels. This study reports that discontinuation of this therapy leads to the complete loss of E-selectin ligands within 3 days and of P-selectin ligands within 7 days. Peripheral neutrophil counts increased parallel to the decrease of selectin ligands. Selectin ligands reappeared promptly after resumption of the fucose therapy, demonstrating a causal relationship between fucose treatment and selectin ligand expression and peripheral neutrophil counts.


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