17 results for "Mathieu Gerfaud-Valentin"

Scleritis and associated systemic diseases: contribution of systemic examination, follow-up, and additional investigations

Mathilde Soubrier; Caroline Vasseneix; Robin Jacquot et al.

Journal of Ophthalmic Inflammation and Infection, Vol. 16 No. 1 · 2025 · English · DOAJ Scopus

Abstract Background Identifying underlying disease associations in patients with scleritis remains a clinical challenge. This study aimed to assess the contribution of systemic examination, longitudinal follow-up, and additional investigations to the identification of associated diseases in…

Sarcoidosis: A Clinical Overview from Symptoms to Diagnosis

Pascal Sève; Yves Pachéco; François Durupt et al.

Cells · 2021 · English · OpenAlex Scopus

Sarcoidosis is a multi-system disease of unknown etiology characterized by the formation of granulomas in various organs. It affects people of all ethnic backgrounds and occurs at any time of life but is more frequent in African Americans and Scandinavians and in adults between 30 and 50 years of…

Also available at: DOAJ

Crystal‐storing histiocytosis and Bing‐Neel‐like syndrome revealing a small B‐cell lymphoma with plasmacytic differentiation, presumed to be a marginal zone lymphoma

Hippolyte Lequain; Mathieu Gerfaud‐Valentin; Juliette Fontaine et al.

Clinical Case Reports, Vol. 9 No. 12 · 2021 · English · DOAJ Dropped by Scopus 2021

Abstract Crystal‐storing histiocytosis and Bing‐Neel syndrome are two diseases induced by paraproteins. Herein, we report a rare case of crystal‐storing histiocytosis associated with Bing‐Neel‐like neurological manifestations in the context of a small B‐cell lymphoma with plasmacytic…

Sarcoidosis and Cancer: A Complex Relationship

Thomas El Jammal; Michel Pavic; Mathieu Gerfaud-Valentin et al.

Frontiers in Medicine, Vol. 7 · 2020 · English · DOAJ Scopus

Sarcoidosis is a systemic disease of unknown etiology, characterized by the presence of non-caseating granulomas in various organs, mainly the lungs, and the lymphatic system. Since the individualization of sarcoidosis-lymphoma association by Brincker et al., the relationship between sarcoidosis or…

Challenging Mimickers in the Diagnosis of Sarcoidosis: A Case Study

Thomas El Jammal; Yvan Jamilloux; Mathieu Gerfaud-Valentin et al.

Diagnostics, Vol. 11 No. 7 · 2021 · English · DOAJ Scopus

Sarcoidosis is a systemic granulomatous disease of unknown cause characterized by a wide variety of presentations. Its diagnosis is based on three major criteria: a clinical presentation compatible with sarcoidosis, the presence of non-necrotizing granulomatous inflammation in one or more tissue…

Uveitis of undifferentiated etiology: insights into diagnosis and evolution from a cohort of 338 patients

Damien Al-Hamoud; Robin Jacquot; Gaëlle Richard-Colmant et al.

BMC Ophthalmology, Vol. 26 No. 1 · 2026 · English · DOAJ Scopus

Abstract Objective Despite considerable advances in diagnostic work-up, approximately one-third of uveitis remains of undifferentiated etiology. Few studies have evaluated the proportion of etiological diagnoses made during follow-up in patients initially classified as undifferentiated uveitis. The…

Quantitative Assessment of Vacuolization of Myeloid Precursors in VEXAS Syndrome

Audrey Rabut; Ludivine Jasserand; Camille Richard et al.

HemaSphere, Vol. 7 No. 2 · 2023 · English · DOAJ Scopus

H syndrome treated with Tocilizumab: two case reports and literature review

Robin Jacquot; Maurine Jouret; Mathieu Gerfaud Valentin et al.

Frontiers in Immunology, Vol. 14 · 2023 · English · DOAJ Scopus

H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, fixed flexion contractures of the…

Hepatic sarcoidosis with symptomatic portal hypertension: A report of 12 cases with review of the literature

Maxime Fauter; Geoffrey Rossi; Ayoub Drissi-Bakhkhat et al.

Frontiers in Medicine, Vol. 9 · 2022 · English · DOAJ Scopus

IntroductionSarcoidosis is a systemic granulomatosis of unknown etiology, characterized by the presence of immune granulomas. Liver damage is a relatively common extra-pulmonary manifestation, occurring in 3.6–30% of cases. Some patients can develop symptomatic portal hypertension (PH). Few series…

Efficacy and safety of two rituximab biosimilars for treating immune thrombocytopenia: a reference-product matched study

Arthur Mageau; Bernard Bonnotte; Mikael Ebbo et al.

Platelets, Vol. 34 No. 1 · 2023 · English · DOAJ Scopus

The emergence of rituximab biosimilars offers the prospect of significant savings to the healthcare system. However, these drugs have never been evaluated for treating immune thrombocytopenia (ITP). This was an observational, matched study. We included adults who received a rituximab biosimilar for…

H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives

Hippolyte Lequain; Mathieu Gerfaud-Valentin; Jean-François Emile et al.

Haematologica, Vol. 108 No. 8 · 2023 · English · DOAJ Scopus

Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation

Daria Chirita; Pauline Bronnec; Flora Magnotti et al.

Cell Death and Disease, Vol. 14 No. 3 · 2023 · English · DOAJ Scopus

Abstract 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 associated with FMF cluster in exon 10. Yet, mutations have been…

Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients

Flora Magnotti; Lucie Lefeuvre; Sarah Benezech et al.

EMBO Molecular Medicine, Vol. 11 No. 11 · 2019 · English · DOAJ Scopus

Abstract Familial Mediterranean fever (FMF) is the most frequent hereditary systemic autoinflammatory syndrome. FMF is usually caused by biallelic mutations in the MEFV gene, encoding Pyrin. Conclusive genetic evidence lacks for about 30% of patients diagnosed with clinical FMF. Pyrin is an…

Mepolizumab and benralizumab in patients with severe asthma and a history of eosinophilic granulomatosis with polyangiitis

Charlene Desaintjean; Kaïs Ahmad; Julie Traclet et al.

Frontiers in Medicine, Vol. 11 · 2024 · English · DOAJ Scopus

IntroductionAsthma associated with eosinophilic granulomatosis with polyangiitis (EGPA) is often severe and corticosteroid-dependent, leading to significant morbidity. Mepolizumab and benralizumab are humanized monoclonal antibodies targeting interleukin 5 (IL-5) and its receptor, respectively…

Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients

Vincent Jachiet; Benjamin Terrier; Laurence Bouillet et al.

RMD Open, Vol. 8 No. 2 · 2022 · English · DOAJ Scopus

Objective A new adult-onset autoinflammatory syndrome has been described, named VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic). We aimed to compare the clinical characteristics, the laboratory features and the outcomes between idiopathic-relapsing polychondritis (I-RP) and…

Apremilast in Refractory Behçet’s Syndrome: A Multicenter Observational Study

Matheus Vieira; Solène Buffier; Mathieu Vautier et al.

Frontiers in Immunology, Vol. 11 · 2021 · English · DOAJ Scopus

ObjectiveMucocutaneous and joint disorders are the most common manifestations in Behçet’s syndrome (BS) and are frequently clustered in the so-called minor forms of BS. There remains a need for safe and effective treatment for joint lesions in BS. We report the long-term safety and effectiveness of…