Síndrome de Down asociado a deficiencia de lectina de unión a manosa, deficiencia de IgG, vasculitis y mutación de la protrombina. Informe de un caso

Resumen

The association of Down syndrome with mannose-binding lectin
(MBL)-deficiency, recurrent infections and vasculitis has not been reported. We report a 30 yearold
female with Down-syndrome associated with MBL-deficiency with the genotype LXA/HYD, IgGdeficiency,
recurrent uro-genital infections, cutaneous vasculitis, G20.210A prothrombin
mutation, deep venous thrombosis, and pulmonary embolism. MBL-deficiency in combination
with IgG deficiency might have favored the development of recurrent uro-genital infections.
Immunodeficiency might be also involved in the pathogenesis of cutaneous vasculitis. Deep
venous thrombosis and pulmonary embolism were attributed to the genetically determined
prothrombotic state and intake of oral contraceptives