Ontology highlight
ABSTRACT:
SUBMITTER: Delgado Pecellin I
PROVIDER: S-EPMC7185849 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Delgado Pecellín I I Castillo Reguera Y Y Delgado Pecellín C C Bueno Delgado M A MA González Valencia J P JP Obando Santaella I I Neth O O
Anales de pediatria (Barcelona, Spain : 2003) 20120401 1
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 ...[more]