Publications by authors named "Jean-Louis Stephan"

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In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.
Marie Jeanpierre, Orianne Debeaupuis, Camille Brunaud, Judith Yancoski, Quentin Riller, Jean-Louis Stephan

EMBO Mol Med· December 2025

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Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study.
Emily Liebling, Caroline Freychet, Valentina Guarnieri, Marija Jelusic, Jordi Antón López, Jean Louis Stephan

Orphanet J Rare Dis· November 2025

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Bifocal -hCG-secreting CNS Germinoma in a 13-Year-Old Boy: Clinical-Biochemical Pubertal Discordance and Long-Term Outcome.
Corina Ramona Nicolescu, Sandrine Thouvenin Doulet, Lucie Bazus, Jean-Louis Stephan

Case Rep Pediatr· October 2025

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Childhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.
Marion Blachez, Nathalie Aladjidi, Thomas Modot, Helder Fernandes, Nathalie Garnier, Jean-Louis Louis Stephan

Blood Adv· October 2025

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Childhood Langerhans cell histiocytosis hematological involvement: severity associated with BRAFV600E loads.
Julian Thalhammer, Eric Jeziorski, Perrine Marec-Bérard, Mohamed Aziz Barkaoui, Anne Pagnier, Jean-Louis Stephan

Blood· March 2025

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Nephrotic syndrome and adrenoleukodystrophy in a 5-year-old boy.
Corina Ramona Nicolescu, Marie-Pierre Lavocat, Jean-Louis Stephan

Pediatr Nephrol· December 2024

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Pediatric refractory chronic immune thrombocytopenia: Identification, patients' characteristics, and outcome.
Thomas Pincez, Helder Fernandes, Mony Fahd, Marlène Pasquet, Wadih Abou Chahla, Jean-Louis Stephan

Am J Hematol· July 2024

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Severe Acquired Hypothyroidism and Van Wyk-Grumbach Syndrome in Two Children.
Corina Ramona Nicolescu, Lucie Bazus, Jean-Louis Stephan

Case Rep Pediatr· July 2024

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Antinuclear antibody-associated autoimmune cytopenia in childhood is a risk factor for systemic lupus erythematosus.
Jérôme Granel, Helder Fernandes, Brigitte Bader-Meunier, Amandine Guth, Olivier Richer, Jean-Louis Stephan

Blood· April 2024

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Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maria Elena Maccari, Martin Wolkewitz, Charlotte Schwab, Tiziana Lorenzini, Jennifer W Leiding, Stephan Rusch, Jean-Louis Stephan, Stephan Ehl

J Allergy Clin Immunol· October 2023

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Real-world experience with CLAIRYG® 50 mg/mL (intravenous immunoglobulin) in children under 12 years with primary immunodeficiency or immmune thrombocytopenia: a post-approval safety study.
Nizar Mahlaoui, Fanny Fouyssac, Françoise Mazingue, Coralie Mallebranche, Malika Barthez-Toullec, Jean-Louis Stephan

Front Pediatr· October 2023

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Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study.
Corina Ramona Nicolescu, Clara Cremillieux, Jean-Louis Stephan

Case Rep Pediatr· October 2023

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Molecular and clinicopathologic characterization of pediatric histiocytoses.
Zofia Hélias-Rodzewicz, Jean Donadieu, Nathalie Terrones, Mohamed-Aziz Barkaoui, Anne Lambilliotte, Jean-Louis Stephan

Am J Hematol· July 2023

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Impact of age at diagnosis, sex, and immunopathological manifestations in 886 patients with pediatric chronic immune thrombocytopenia.
Thomas Pincez, Helder Fernandes, Marlène Pasquet, Wadih Abou Chahla, Jérome Granel, Jean-Louis Stephan

Am J Hematol· June 2023

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Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency.
Zhiyong Liu, Eduardo J Garcia Reino, Oliver Harschnitz, Hongyan Guo, Yi-Hao Chan, Jean-Louis Stephan, Stephane Chabrier

Sci Immunol· April 2023

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Increased Immunity against the Oral Germs and in Different Categories of Juvenile Idiopathic Arthritis.
Franck Zekre, Rolando Cimaz, Mireille Paul, Teresa Giani, Louis Waeckel, Jean-Louis Stephan

Biomedicines· October 2022

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Bilateral sterile subdural effusion in Kawasaki disease-A case report.
Corina Ramona Nicolescu, Marie Duperril, Jean-Louis Stephan

Front Pediatr· September 2022

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Determinants of long-term outcomes of splenectomy in pediatric autoimmune cytopenias.
Thomas Pincez, Nathalie Aladjidi, Sébastien Héritier, Nathalie Garnier, Mony Fahd, Jean-Louis Stephan

Blood· July 2022

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Cyclin D1 expression in ganglioglioma, pleomorphic xanthoastrocytoma and pilocytic astrocytoma.
Fabien Forest, Pierre Dal Col, David Laville, Alice Court, Maxime Rillardon, Jean-Louis Stephan

Exp Mol Pathol· August 2021

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Esophageal perforation in eosinophilic esophagitis: five cases in children.
Camille Donnet, Sylvie Destombe, Alain Lachaux, Laurent Michaud, Valérie Triolo, Jean-Louis Stephan

Endosc Int Open· July 2020

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Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE).
Marie de Tersant, Lucile Généré, Claire Freyçon, Sophie Villebasse, Rachid Abbas, Jean-Louis Stephan

J Endocr Soc· May 2020

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Severe Late-Onset Kawasaki Disease Successfully Treated With Anakinra.
Gauthier Blonz, Sylvie Lacroix, Nadir Benbrik, Karine Warin-Fresse, Agathe Masseau, Jean-Louis Stephan

J Clin Rheumatol· March 2020

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A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.
Hélène Coignard-Biehler, Nizar Mahlaoui, Benoit Pilmis, Vincent Barlogis, Pauline Brosselin, Jean-Louis Stephan

J Clin Immunol· October 2019

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Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study.
Sébastien Héritier, Mohamed-Aziz Barkaoui, Jean Miron, Caroline Thomas, Despina Moshous, Jean-Louis Stephan

Br J Haematol· November 2018

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Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.
Seda Seren, Maha Rashed Abouzaid, Claudia Eulenberg-Gustavus, Josefine Hirschfeld, Hala Nasr Soliman, Jean-Louis Stephan

J Biol Chem· August 2018

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