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Jean-Pierre Hugot
Centre national de la recherche scientifique
278Publications
51H-index
19.5kCitations
Publications 278
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Abstract Congenital Sodium Diarrhea (CSD) due to SLC9A3 mutation is a rare cause of neonatal diarrhea explained by dysfunction of the Na+/H+ antiporter 3 in intestine. To date only 10 patients have been described. We report a male patient with typical antenatal symptoms (polyhydramnios and intestinal dilation) and neonatal diarrhea with fecal sodium and bicarbonates loss. Next generation sequencing revealed a missense homozygous mutation in exon 6 of the SLC9A3 gene (NM_004174.3:c.1039G > A, NP_...
ABSTRACTObjectives:In adult inflammatory bowel disease (IBD) treated by anti-TNF antibodies, paradoxical psoriasis has an estimated prevalence of 1.6 to 22%, especially in infliximab (IFX)-treated patients. Little is known in the pediatric IBD (PIBD) populations.Methods:All patients aged from 2 to 1
#1Jean-Pierre Hugot (French Institute of Health and Medical Research)H-Index: 51
#2Z. Al Nabhani (French Institute of Health and Medical Research)
Last.C. Madre (French Institute of Health and Medical Research)
view all 17 authors...
NOD2 mutations are key risk factors for Crohn9s disease (CD). NOD2 contributes to intestinal homeostasis by regulating innate and adaptive immunity together with intestinal epithelial function. However, the roles of NOD2 during gut inflammation is not known. We initially observed that NOD2 expression was increased in epithelial cells remote from inflamed areas in CD patients. To explore this finding, Nod2 mRNA expression, inflammation and gut permeability were examined in the small bowel of wild...
#1Audrey Ferrand (French Institute of Health and Medical Research)H-Index: 13
#2Ziad Al Nabhani (French Institute of Health and Medical Research)H-Index: 2
Last.Frédérick Barreau (French Institute of Health and Medical Research)H-Index: 17
view all 6 authors...
Nucleotide-binding oligomerization domain 2 (NOD2) is an intracellular pattern recognition receptor that senses bacterial peptidoglycan-conserved motifs in cytosol and stimulates host immune response including epithelial and immune cells. The association of NOD2 mutations with a number of inflammatory pathologies including Crohn’s disease (CD), graft-versus-host diseases, or Blau syndrome, highlights its pivotal role in inflammatory response and the associated-carcinogenesis development. Since i...
Abstract In this study, we characterize the diversity and estimated infection levels of gastrointestinal parasites circulating in two galago species, Galago demidoff and G. thomasi in two sites situated in the Southeastern forests of Gabon. Our study reveals that eleven parasites including nine helminthes ( Ascaris spp., Ankylostoma spp., Dicrocoelium spp., Gongylonema spp., Oesophagostomum spp., Lemuricola spp. , Strongyloides spp. Trichostrongylus spp. and Trichuris spp.) and two protozoans ( ...
#1Leila Amininejad (ULB: Université libre de Bruxelles)H-Index: 9
#2Benoit Charloteaux (University of Liège)H-Index: 22
Last.Jean-Michel GhislainH-Index: 1
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Background & Aims A few rare monogenic primary immunodeficiencies (PIDs) are characterized by chronic intestinal inflammation that resembles Crohn's disease (CD). We investigated whether 23 genes associated with 10 of these monogenic disorders contain common, low-frequency, or rare variants that increase risk for CD. Methods Common and low frequency variants in 1 Mb loci centered on the candidate genes were analyzed using meta-data corresponding to genotypes of approximately 17,000 patients with...
#2Marianna Parlato (Paris V: Paris Descartes University)H-Index: 10
Last.Julie Bruneau (Paris V: Paris Descartes University)H-Index: 2
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An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases (VEO-IBD). The present study aimed at defining how next-generation sequencing (NGS) methods can be used to improve identification of known molecular diagnosis and adapt treatment. 207 children were recruited in 45 Paediatric centres through an international collaborative network (ESPGHAN GENIUS working group) with a clinical presentation of severe VEO-IBD (n=...
#1Frédéric Vély (AMU: Aix-Marseille University)H-Index: 29
#2Vincent BarlogisH-Index: 21
Last.Ariane PerryH-Index: 3
view all 16 authors...
The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex involved in RNA degradation. The main features are intractable diarrhea of infancy, hair abnormalities, facial dysmorphism, intrauterine growth restriction. Immunologically this syndrome is associated with an hypogammaglobulinemia and a rapid loss of specific antibodies after vaccination leading to a...
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