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LAME, France

Lambotte O.,Service de Medecine Interne | Lambotte O.,University Paris - Sud | Neven B.,NSERM | Neven B.,University of Paris Descartes | And 15 more authors.
Haematologica | Year: 2013

A diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency during adulthood is unusual. We analyzed 17 cases of autoimmune lymphoproliferative syndrome caused by FAS deficiency diagnosed during adulthood in French reference centers for hereditary immunodeficiencies and for immune cytopenias. Twelve of the 17 patients had developed their first symptoms during childhood. The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations. The 5 other patients presented their first symptoms after the age of 16 years. In these patients, three germline heterozygous FAS mutations were predicted to be associated with haploinsufficiency and a somatic event on the second FAS allele was observed in 2 cases. Autoimmune lymphoproliferative syndrome may well be diagnosed in adulthood. The occurrence of additional genetic events may account for the delayed disease onset. © 2013 Ferrata Storti Foundation.

Delahaye A.,AP HP | Delahaye A.,University of Paris 13 | Khung-Savatovsky S.,AP HP | Aboura A.,AP HP | And 24 more authors.
American Journal of Medical Genetics, Part A | Year: 2012

FOXC1 deletion, duplication, and mutations are associated with Axenfeld-Rieger anomaly, and Dandy-Walker malformation spectrum. We describe the clinical history, physical findings, and available brain imaging studies in three fetuses, two children, and one adult with 6p25 deletions encompassing FOXC1. Various combinations of ocular and cerebellar malformations were found. In all three fetuses, necropsy including detailed microscopic assessments of the eyes and brains showed ocular anterior segment dysgenesis suggestive of Axenfeld-Rieger anomaly. Five 6p25 deletions were terminal, including two derived from inherited reciprocal translocations; the remaining 6p25 deletion was interstitial. The size and breakpoints of these deletions were characterized using comparative genomic hybridization arrays. All six deletions included FOXC1. Our data confirm that FOXC1 haploinsufficiency plays a major role in the phenotype of patients with 6p25 deletions. Histopathological features of Axenfeld-Rieger anomaly were clearly identifiable before the beginning of the third-trimester of gestation. © 2012 Wiley Periodicals, Inc.

Ruyssen-Witrand A.,NSERM | Ruyssen-Witrand A.,University Paul Sabatier | Ruyssen-Witrand A.,Toulouse University Hospital Center | Constantin A.,NSERM | And 6 more authors.
Tissue Antigens | Year: 2012

Rheumatoid arthritis (RA) is a common autoimmune disease with a strong genetic component. Numerous aberrant immune responses have been described during the evolution of the disease. In later years, the appearance of anti-citrullinated protein antibodies (ACPAs) has become a hallmark for the diagnosis and prognosis of RA. The post-translational transformation of arginine residues of proteins and peptides into citrulline (citrullination) is a natural process in the body, but for unknown reasons autoreactivity towards citrullinated residues may develop in disposed individuals. ACPAs are often found years before clinical manifestations. ACPAs are present in about 70% of RA patients and constitute an important disease marker, distinguishing patient groups with different prognoses and different responses to various treatments. Inside the human leukocyte antigen (HLA) region, some HLA-DRB1 alleles are strongly associated with their production. Genome-wide association studies in large patient cohorts have defined a great number of single nucleotide polymorphisms (SNPs) outside of the HLA region that are associated with ACPA positive (ACPA+) RA. The SNPs are generally located close to or within genes involved in the immune response or signal transduction in immune cells. Some environmental factors such as tobacco smoking are also positively correlated with ACPA production. In this review, we will describe the genes and loci associated with ACPA+ RA or ACPA- RA and attempt to clarify their potential role in the development of the disease. © 2012 John Wiley & Sons A/S.

Basmaci R.,NSERM | Basmaci R.,University Paris Diderot | Basmaci R.,Laboratoire Of Microbiologie | Bidet P.,NSERM | And 13 more authors.
Antimicrobial Agents and Chemotherapy | Year: 2014

Kingella kingae is the major pathogen causing osteoarticular infections (OAI) in young children in numerous countries. Plasmid-borne TEM-1 penicillinase production has been sporadically detected in a few countries but not in continental Europe, despite a high prevalence of K. kingae infections. We describe here for the first time a K. kingae β-lactamase-producing strain in continental Europe and demonstrate the novel chromosomal location of the blaTEM1gene in K. kingae species.Copyright © 2014 American Society for Microbiology. All Rights Reserved.

Fauvel B.,NSERM | Fauvel B.,University of Caen Lower Normandy | Fauvel B.,EPHE Paris | Fauvel B.,Caen University Hospital Center | And 16 more authors.
Frontiers in Human Neuroscience | Year: 2013

Brain plasticity allows the central nervous system of a given organism to cope with environmental demands. Therefore, the quality of mental processes relies partly on the interaction between the brain's physiological maturation and individual daily experiences. In this review, we focus on the neural implementation of musical expertise at both an anatomical and a functional level. We then discuss how this neural implementation can explain transfers from musical learning to a broad range of non-musical cognitive functions, including language, especially during child development. Finally, given that brain plasticity is still present in aging, we gather arguments to propose that musical practice could be a good environmental enrichment to promote cerebral and cognitive reserves, thereby reducing the deleterious effect of aging on cognitive functions. © 2013 Fauvel, Groussard, Eustache, Desgranges and Platel.

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