Leukocyte adhesion deficiency, types

Leukocyte adhesion deficiency, type II (MIM 266265) Probably mutations affecting a Golgi-located GDP-fucose transporter, resulting in defective fucosylation. 

CD11a/CD18,CDllb/CD18, CDllc/CD18 j Adhesion molecules (members of the 1 integrin family) Deficient in leukocyte adhesion deficiency type 1 (MIM 116920)... 

Leukocyte Adhesion Deficiency Type 2. Patients with this condition have a defect in the transport or production of the carrier molecule for the carbohydrate L-fucose (guanosine disphosphate L-fucose). The lack of fucose affects the ability of neutrophils to interact with ligands on endothelial cells such as P-selectins and E-selectins (81). Patients are susceptible to recurrent infections similar to those afflicting patients with type 1 leukocyte adhesion deficiency, have periodontal problems, and, in addition, may exhibit growth retardation and neurologic defects. Treatment with oral fucose has been known to be effective in reducing the frequency of infections (80). 

Leukocyte adhesion deficiency type 1 Patients are exposed to recurrent infections and teeth problems such as periodontitis. 

Leukocyte adhesion deficiency type 2 Same cUnical problems as in type 1. In addition, patients have growth retardation and neurologic defects. Treatment wifii oral fucose reduces frequency of infections. 

Marquardt T, Luhn K, Srikrishna G, Freeze HH, Harms E, Vestweber D (1999) Correction of leukocyte adhesion deficiency type II with oral fucose. Blood 94 3976-3985... 

A variety of pathological consequences are the result of malfunctions related to the selectins. Patients with a rare disease known as leukocyte adhesion deficiency type II (LAD-II, whereas LAD-I is a defect in the common 2 integrin subunit) lack the appropriate de novo fucosy-lation pathway to biosynthesize SLe, and consequently suffer from repeated severe bacterial... 

SLC35 Nucleoside-sugar transporter 17 Leukocyte adhesion deficiency type II... 

The significance of 2 integrins for neutrophil emigration was early indicated by the leukocyte adhesion deficiency type I syndrome, which is characterized by recurrent infections and poor wound healing as a result of impaired... 

Sturla, L. Etzioni, A. Bisso, A. Zanardi, D. Deflora, G. Silengo, L. Deflora, A. Tonetti, M. Defective intracellular activity of GDP-D-Mannose-4,6-Dehydratase in leukocyte adhesion deficiency type II syndrome. FEES Lett. 1998, 429, 274-278. 

Marquardt, T. Liihn, K. Srikrishna, G. Freeze, H.H. Harms, E. Vestweber, D. Fucose Therapy for Leukocyte Adhesion Deficiency Type II (LAD II). Blood 1999, 94, 3976-3985. Chan, J.Y. Nwokoro, N.A. Schachter, H. L-Fucose metabolism in mammals. The conversion of L-fucose to two moles of L-lactate, of L-galactose to L-lactate and glycerate, and of D-arabinose to L-lactate and glycollate. J. Biol. Chem. 1979, 254, 7060-7068. 

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