Isabelle Touitou
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Explore the profile of Isabelle Touitou including associated specialties, affiliations and a list of published articles.
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121
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2553
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Recent Articles
1.
Rezaei M, Liang M, Yalcin Z, Martin J, Kazemi P, Bareke E, et al.
J Clin Invest
. 2024 Nov;
134(22).
PMID: 39545410
To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic...
2.
Ben-Chetrit E, Touitou I
Clin Genet
. 2024 May;
106(3):217-223.
PMID: 38818540
Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever, serositis (peritonitis, pleuritis, or synovitis), and erysipelas-like erythema. Genetic variants in the MEFV gene are associated...
3.
Cosson C, Riou R, Patoli D, Niu T, Rey A, Groslambert M, et al.
J Exp Med
. 2024 Mar;
221(5).
PMID: 38530241
NLRP3-associated autoinflammatory disease is a heterogenous group of monogenic conditions caused by NLRP3 gain-of-function mutations. The poor functional characterization of most NLRP3 variants hinders diagnosis despite efficient anti-IL-1 treatments. Additionally,...
4.
Boursier G, Touitou I
Rev Prat
. 2024 Feb;
73(8):863-866.
PMID: 38354007
THE CONTRIBUTION OF GENETICS. Autoinflammatory diseases (AIDs) have benefited from modern genetic tools, in particular the widespread use of high-throughput sequencing, which has helped to improve our knowledge of the...
5.
Heiser L, Broly M, Rittore C, Touitou I, Georgin-Lavialle S, Boursier G
Genes (Basel)
. 2023 Oct;
14(10).
PMID: 37895288
In order to assess the clinical and biological criteria that predict gene panel positivity in patients with a suspected inherited genetic autoinflammatory disease, we conducted a case-control study. These new...
6.
Gerritsma A, Sutera D, Cantarini L, Cattalini M, Lachmann H, Minden K, et al.
Clin Exp Rheumatol
. 2023 Jul;
41(10):1998-2007.
PMID: 37470237
Objectives: To describe the clinical phenotype and response to treatment of autoinflammatory disease (AID) patients with the TNFRSF1A-pR92Q variant compared to patients with tumour necrosis factor receptor-associated periodic syndrome (TRAPS)...
7.
Saad N, Duroux-Richard I, Touitou I, Jeziorski E, Apparailly F
Immunol Lett
. 2023 Apr;
256-257:48-54.
PMID: 37023968
microRNAs (miRNAs) are small non-coding RNA sequences that negatively regulate the expression of protein-encoding genes at the post-transcriptional level. They play a role in the regulation of inflammatory responses by...
8.
Chirita D, Bronnec P, Magnotti F, Dalmon S, Martin A, Popoff M, et al.
Cell Death Dis
. 2023 Mar;
14(3):213.
PMID: 36966139
Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disorder. FMF is caused by mutations in the MEFV gene, encoding pyrin, an inflammasome sensor. The best characterized pathogenic mutations...
9.
Touitou I, Jeziorski E, Al-Saleh A, Carbasse A, Piram M
Joint Bone Spine
. 2022 Nov;
90(2):105475.
PMID: 36404572
Background: Systemic autoinflammatory diseases (SAIDs) are a group of disorders related to defective regulation of the innate immune system. Recurrence of inflammation can severely affect the patients' outcomes with a...
10.
Abraham P, Marin G, Filleron A, Michon A, Marchandin H, Godreuil S, et al.
Medicine (Baltimore)
. 2022 Oct;
101(38):e30506.
PMID: 36197203
Infectious diseases can result in unanticipated post-infectious inflammatory reactions (PIIR). Our aim was to explore PIIR in 3 frequent pediatric bacterial invasive infections in France by a retrospective monocentric study....