Leukocyte adhesion deficiencies

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, Brune, T, Luhn, K., etal., Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism. J. Pediatr. 134, 681-688 (1999). 

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... 

Anderson DC, Springer TA. Leukocyte adhesion deficiency an inherited defect in the Mac-1, LFA-1, and P150 glycoproteins. Annu Rev Med 1987 38 175-194. 

Leukocyte adhesion deficiency MPS VII Sly disease Muscular dystrophy... 

Hirschberg CB. Golgi nucleotide sugar transport and leukocyte adhesion deficiency II. J. CUn. Invest. 2001 108 3-6. 

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... 

Leukocyte adhesion deficiency is caused by a genetic defect in the synthesis of the integrln (52 subunit. Persons with this disorder are susceptible to repeated bacterial infections because their leukocytes cannot extravasate properly and thus fight the infection within the tissue. 

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... 

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