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Benoît Florkin

Mevalonate Kinase Deficiency: A Survey of 50 Patients
2011 · Brigitte Bader-Meunier, Benoit Florkin, et al. · PEDIATRICS · 220
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
2022 · Jérémy Manry, Paul Bastard, et al. · Proceedings of the National Academy of Sciences · 205
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation
2011 · Bénédicte Neven, Aude Magerus-Chatinet, et al. · Blood · 185
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
2019 · Victoria Katharina Tesch, Hassan Abolhassani, et al. · Journal of Allergy and Clinical Immunology · 163
FAS-L, IL-10, and double-negative CD4−CD8− TCR α/β+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function
2009 · Aude Magerus-Chatinet, Marie-Claude Stolzenberg, et al. · Blood · 150
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Increased Expression of Bone Sialoprotein in Bone Metastases Compared with Visceral Metastases in Human Breast and Prostate Cancers
2000 · David Waltregny, Akeila Bellahcène, et al. · Journal of Bone and Mineral Research · 136
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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
2022 · Qian Zhang, Daniela Matuozzo, et al. · The Journal of Experimental Medicine · 123
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Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study
2015 · Anne-Sylvia Sacri, Tristan Chambaraud, et al. · Nephrology Dialysis Transplantation · 117
Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans
2012 · Gabriella Vera, Paola Rivera-Munoz, et al. · Molecular and Cellular Biology · 87
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TIM3+ TRBV11-2 T cells and IFNγ signature in patrolling monocytes and CD16+ NK cells delineate MIS-C
2021 · Levi Hoste, Lisa Roels, et al. · The Journal of Experimental Medicine · 86
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
2023 · Daniela Matuozzo, Estelle Talouarn, et al. · Genome Medicine · 85
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Population-based, first-tier genomic newborn screening in the maternity ward
2025 · François Boemer, Kristine Hovhannesyan, et al. · Nature Medicine · 74
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Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation
2017 · Markus G. Seidel, Katrin Böhm, et al. · Journal of Allergy and Clinical Immunology · 60
Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients
2014 · Bénédicte Neven, Julie Bruneau, et al. · Blood · 58
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Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes
2013 · Saik Urien, Christophe Bardin, et al. · BMC Pharmacology and Toxicology · 58
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A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
2019 · Richard Gallon, Barbara Mühlegger, et al. · Human Mutation · 52
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Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
2019 · Leen Moens, Mieke Gouwy, et al. · Journal of Clinical Immunology · 46
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Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes
2007 · Véronique Mateo, Michael Ménager, et al. · Blood · 41
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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
2019 · Maribel González-Acosta, Fátima Marín, et al. · Journal of Medical Genetics · 34
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Screening protocols to monitor respiratory status in primary immunodeficiency disease: findings from a European survey and subclinical infection working group
2017 · S Jolles, S Sánchez-Ramón, et al. · Clinical & Experimental Immunology · 33
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Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency
2022 · Richard Gallon, Rachel Phelps, et al. · Gastroenterology · 30
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Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients
2023 · Quentin Riller, Jacques Fourgeaud, et al. · Journal of Allergy and Clinical Immunology · 18
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Pneumococcal Antibody Levels in Children With PID Receiving Immunoglobulin
2013 · David Tuerlinckx, Benoit Florkin, et al. · PEDIATRICS · 18
Osteopetrosis mimicking juvenile myelomonocytic leukemia
2014 · Claire Hoyoux, Marie Françoise Dresse, et al. · Pediatrics International · 15
Le lymphocytome borrélien du lobe de l’oreille
2010 · C. Palmen, P. Jamblin, et al. · Archives de Pédiatrie · 13
Works count: 63
Citation count: 2,143
H-index: 21
I10-index: 26
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