Systemic Lupus Erythematosus (SLE) Clinical Trial
Official title:
GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus
Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease for which the aetiology
includes genet-ic and environmental factors. It is rare in children as compared to adults.
The severity may be related to greater involvement of genetic factors in children. The impact
of genetics in the development of SLE is important, and the risk of recurrence in siblings
evaluated by lambda S ratio is 30 in SLE, while it is 15 for type-1 diabetes and 8 rheumatoid
arthritis, thereby indicating high impact of genetics in SLE.
Recently, the group of Professor Yanick Crow in Manchester and other teams has identified new
forms of lupus Mendelian genetics. The TREX1 and genes involved in the SAMHD1 frostbite
lupus.
Nearly 2 % of all adult subjects with SLE have a heterozygous mutation in the TREX1 gene,
which therefore represents the first genetic cause of SLE. The team of Professor Crow also
identified the ACP5 gene that is responsible for SLE associated with Spondylo-epiphyseal
enchondro-epiphyseal dysplasia (syndromic lupus). Other groups have identified mutations in
two genes encoding a DNAse (DNAse1 and DNAse1L3) responsible for familial monogenic forms of
SLE. These new genes SLE were identified through research of germ-line mutations in cases of
lupus syndromic or family. In collaboration with Professor Crow, we are currently undergoing
characterization of a novel gene of SLE in a family and we have identified a second locus
identified in another family. The identification of these genes provides a better
understanding of the mechanisms regulating immune tolerance in humans. The frequency of these
genetic forms is not known. There is very little data on the immunological phenotype of these
patients.
This is a clinical study to investigate the genetic and immunological abnormalities
associated with pediatric SLE. The aim are to:
- study the genetics of pediatric SLE (or syndromic or family) and to search for mutations
in the known genetic lupus or new genes in collaboration with Professor Yanick Crow.
- study the lymphocyte subpopulations and serum cytokines in pediatric patients with SLE
(or syndromic or family) in the large Rhône- Alpes- Auvergne area.
n/a
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