Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation

2002 ◽  
Vol 110 (2) ◽  
pp. 131-135 ◽  
Author(s):  
Amos Etzioni ◽  
Laura Sturla ◽  
Anthony Antonellis ◽  
Eric D. Green ◽  
Ruth Gershoni-Baruch ◽  
...  
Keyword(s):  
Founder Effect ◽  
Leukocyte Adhesion ◽  
Type Ii ◽  
Leukocyte Adhesion Deficiency ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Fucose supplementation in leukocyte adhesion deficiency type II

Blood ◽  
2000 ◽  
Vol 95 (11) ◽  
pp. 3641-3643 ◽  
Author(s):  
Amos Etzioni ◽  
Michela Tonetti
Keyword(s):  
Leukocyte Adhesion ◽  
Type Ii ◽  
Leukocyte Adhesion Deficiency ◽  
Deficiency Type

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 ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Culture Medium ◽  
Leukocyte Adhesion ◽  
Effective Therapy ◽  
Type Ii ◽  
Leukocyte Adhesion Deficiency ◽  
Oral Supplementation ◽  
Selectin Ligands ◽  
Deficiency Type ◽  
Core Fucosylation

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.

scholarly journals Defective intracellular activity of GDP-d-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome

FEBS Letters ◽  
1998 ◽  
Vol 429 (3) ◽  
pp. 274-278 ◽  
Author(s):  
Laura Sturla ◽  
Amos Etzioni ◽  
Angela Bisso ◽  
Davide Zanardi ◽  
Giovanni De Flora ◽  
...  
Keyword(s):  
Leukocyte Adhesion ◽  
Type Ii ◽  
Leukocyte Adhesion Deficiency ◽  
Intracellular Activity ◽  
Deficiency Type

scholarly journals Diseases of aberrant glycosylation.

1995 ◽  
Vol 42 (1) ◽  
pp. 1-10 ◽  
Author(s):  
J Kościelak
Keyword(s):  
Paroxysmal Nocturnal Hemoglobinuria ◽  
Leukocyte Adhesion ◽  
Type Ii ◽  
Cell Disease ◽  
Leukocyte Adhesion Deficiency ◽  
Ehlers Danlos Syndrome ◽  
Congenital Dyserythropoietic Anemia ◽  
Aberrant Glycosylation ◽  
Carbohydrate Deficient Glycoprotein Syndrome ◽  
Danlos Syndrome

Recently a defective glycosylation of glycoconjugates has been implicated in the pathogenesis of a number of heritable or acquired diseases of humans. Herein I discuss them under the name of diseases of aberrant glycosylation. These are: congenital dyserythropoietic anemia type II, carbohydrate-deficient glycoprotein syndrome, I-cell disease, galactosemia in subjects on galactose-free diet, variants of leukocyte adhesion deficiency, and of Ehlers-Danlos syndrome, paroxysmal nocturnal hemoglobinuria, and Tn syndrome. Regarding the present views on the function of glycoconjugates it is probably significant that in most instances defective or missing glycoproteins (or proteoglycans) but not glycosphingolipids, are probably involved in the pathogenesis of these diseases.

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