Author: Delgado PecellÃn, I.; Castillo Reguera, Y.; Delgado PecellÃn, C.; Bueno Delgado, M.A.; González Valencia, J.P.; Obando Santaella, I.; Neth, O.
Title: Displasia ectodérmica anhidrótica asociada a déficit de lectina de unión a manosa Cord-id: mkson2tj Document date: 2012_4_1
ID: mkson2tj
Snippet: Mannose-binding lectin (MBL) is a serum protein of the innate immune system. MBL enhances opsonophagocytosis by binding to carbohydrates expressed by multiple pathogens. MBL deficiency is due to polymorphisms in the structural and promoter sequences of the MBL2 gene and is associated with variety of recurrent infections, including respiratory tract infections. We present a case of anhidrotic ectodermal dysplasia associated with severe mannose-binding lectin deficiency, never described in patient
Document: Mannose-binding lectin (MBL) is a serum protein of the innate immune system. MBL enhances opsonophagocytosis by binding to carbohydrates expressed by multiple pathogens. MBL deficiency is due to polymorphisms in the structural and promoter sequences of the MBL2 gene and is associated with variety of recurrent infections, including respiratory tract infections. We present a case of anhidrotic ectodermal dysplasia associated with severe mannose-binding lectin deficiency, never described in patients with anhidrotic ectodermal dysplasia.
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