title: [Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency].
abstract: 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.
authors.affiliation: Unidad de Neumología y Alergia, Hospital Infantil Virgen del Rocío, Sevilla, España. idelpe@gmail.com
authors.forename: I
authors.initials: I
authors.lastname: Delgado Pecellín
authors.forename: Y
authors.initials: Y
authors.lastname: Castillo Reguera
authors.forename: C
authors.initials: C
authors.lastname: Delgado Pecellín
authors.forename: M A
authors.initials: MA
authors.lastname: Bueno Delgado
authors.forename: J P
authors.initials: JP
authors.lastname: González Valencia
authors.forename: I
authors.initials: I
authors.lastname: Obando Santaella
authors.forename: O
authors.initials: O
authors.lastname: Neth
mesh_terms: D004476:Ectodermal Dysplasia / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D037601:Mannose-Binding Lectin / Q000172:deficiency*
chemical_list: D037601:Mannose-Binding Lectin