Publications by authors named "Benoit Florkin"

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Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients.
Quentin Riller, Jacques Fourgeaud, Julie Bruneau, Suk See De Ravin, Grace Smith, Benoit Florkin

J Allergy Clin Immunol· June 2023

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Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Richard Gallon, Rachel Phelps, Christine Hayes, Laurence Brugieres, Léa Guerrini-Rousseau, Benoît Florkin

Gastroenterology· April 2023

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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Qian Zhang, Daniela Matuozzo, Jérémie Le Pen, Danyel Lee, Leen Moens, Benoit Florkin

J Exp Med· August 2022

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Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
Victoria Katharina Tesch, Hassan Abolhassani, Bella Shadur, Joachim Zobel, Yuliya Mareika, Benoit Florkin

J Allergy Clin Immunol· May 2020

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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
Maribel González-Acosta, Fátima Marín, Benjamin Puliafito, Nuria Bonifaci, Anna Fernández, Benoît Florkin

J Med Genet· April 2020

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A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Richard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, Harsh Sheth, Christine Hayes, Benoît Florkin

Hum Mutat· May 2019

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Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.
Leen Moens, Mieke Gouwy, Barbara Bosch, Oleksandr Pastukhov, Alejandro Nieto-Patlàn, Benoit Florkin

J Clin Immunol· April 2019

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Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation.
Markus G Seidel, Katrin Böhm, Figen Dogu, Austen Worth, Adrian Thrasher, Benoit Florkin

J Allergy Clin Immunol· February 2018

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Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study.
Anne-Sylvia Sacri, Tristan Chambaraud, Bruno Ranchin, Benoît Florkin, Hélène Sée

Nephrol Dial Transplant· April 2015

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Osteopetrosis mimicking juvenile myelomonocytic leukemia.
Claire Hoyoux, Marie Françoise Dresse, Patricia Forget, Caroline Piette, Léon Rausin, Benoit Florkin

Pediatr Int· October 2014

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Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients.
Bénédicte Neven, Julie Bruneau, Marie-Claude Stolzenberg, Isabelle Meyts, Aude Magerus-Chatinet, Benoit Florkin

Blood· September 2014

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Pneumococcal antibody levels in children with PID receiving immunoglobulin.
David Tuerlinckx, Benoit Florkin, Alina Ferster, Iris De Schutter, Christophe Chantrain

Pediatrics· January 2014

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Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes.
Saik Urien, Christophe Bardin, Brigitte Bader-Meunier, Richard Mouy, Sandrine Compeyrot-Lacassagne, Benoît Florkin

BMC Pharmacol Toxicol· August 2013

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Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans.
Gabriella Vera, Paola Rivera-Munoz, Vincent Abramowski, Laurent Malivert, Annick Lim, Benoit Florkin

Mol Cell Biol· February 2013

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A case of osteosarcoma in a patient with pycnodysostosis.
Natasha Cortisse, Patricia Forget, Marie F Dresse, Benoit Florkin, Eric Mascard

J Pediatr Hematol Oncol· October 2012

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A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.
Bénédicte Neven, Aude Magerus-Chatinet, Benoit Florkin, Delphine Gobert, Olivier Lambotte

Blood· November 2011

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Mevalonate kinase deficiency: a survey of 50 patients.
Brigitte Bader-Meunier, Benoit Florkin, Jean Sibilia, Cécile Acquaviva, Eric Hachulla

Pediatrics· July 2011

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FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.
Aude Magerus-Chatinet, Marie-Claude Stolzenberg, Maria S Loffredo, Bénédicte Neven, Catherine Schaffner, Benoit Florkin

Blood· March 2009

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Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes.
Véronique Mateo, Michael Ménager, Geneviève de Saint-Basile, Marie-Claude Stolzenberg, Bertrand Roquelaure, Benoit Florkin

Blood· December 2007

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