Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0149871 (
deep vein thrombosis
)
12,364
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The association of Down syndrome with
mannose-binding lectin
(
MBL
)-deficiency, recurrent infections and vasculitis has not been reported. We report a 30 year-old female with Down-syndrome associated with
MBL
-deficiency with the genotype LXA/HYD, IgG-deficiency, 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.
...
PMID:Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin. 1939 28
