Displasia ectodérmica anhidrótica asociada a déficit de lectina de unión a manosa / Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency
An. pediatr. (2003, Ed. impr.)
; 77(1): 43-46, jul. 2012. ilus
Article
in Spanish
| IBECS
| ID: ibc-101258
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
La lectina de unión a la manosa (mannose-binding lectin [MBL]) es una proteína sérica perteneciente al sistema inmunitario innato. Se une a los azúcares de las membranas de múltiples microorganismos, favoreciendo su opsonización y eliminación. El déficit de MBL resulta del polimorfismo del gen MBL2 y se asocia a una amplia variedad de infecciones recurrentes, incluidas las infecciones del tracto respiratorio. Presentamos un caso de displasia ectodérmica anhidrótica asociada a un déficit de MBL, inmunodeficiencia nunca descrita en pacientes afectados de displasia ectodérmica anhidrótica(AU)
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(AU)
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Ectodermal Dysplasia
/
Mannose-Binding Lectins
Type of study:
Risk factors
Limits:
Humans
Language:
Spanish
Journal:
An. pediatr. (2003, Ed. impr.)
Year:
2012
Document type:
Article
Institution/Affiliation country:
Hospital Infantil Virgen del Rocío/España