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Pilot Study of Auto-immune Abnormalities Associated With Down Syndrome

2014-07-23 21:11:14 | BioPortfolio

Summary

The purpose of the study is to identify biological data linked to auto immune abnormalities associated with Down Syndrome.

Study Design

Observational Model: Case Control, Time Perspective: Cross-Sectional

Conditions

Down Syndrome With and Without Auto Immune Abnormalities

Location

Institut Jerome Lejeune
Paris
France
75015

Status

Recruiting

Source

Institut Jerome Lejeune

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-07-23T21:11:14-0400

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Medical and Biotech [MESH] Definitions

An Ig domain-containing membrane receptor that is expressed by TH1 CELLS. It regulates the activation of MACROPHAGES and inhibits TH1-mediated auto- and alloimmune responses to promote IMMUNE TOLERANCE.

A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

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