📇 Rhumatologue ·
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2 raisons identifiées
Praticien-chercheur
5 articles scientifiques publiés — formation continue solide
Référence presse grand public
Cité 1 fois dans les médias — pédagogie reconnue
✨ Génération du profil synthétique IA en cours…
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Lien Doctolib = recherche Google site:doctolib.fr (le 1er résultat est presque toujours le profil correct s'il existe).
Source : Google News (recherche par nom complet — homonymes possibles, vérifier le contenu).
📰 Le Quotidien du Médecin · 17/07/2019
<a href="https://news.google.com/rss/articles/CBMigAFBVV95cUxPeWtoQllVYmhSSWRXUzQ3dU4xekJ2WnpBakhrUmJPMzFYMzYyTjFjdmIzWFhEcE9qeTYtOERjNlVvYVVmOW9TT3ljVlhCTEQwSkZzZ1VYZ003M0RWeVlyVnFFTkNhUDR1cWVXczliYVlza1E4cG9qTWZYUlp0ci1NbA?oc=5" target="_blank">Interview du Pr Colette Dufour</a> <font color="#6f6f
HemaSphere · 2023
The definition of autoimmune neutropenias (AIN) has been based on the demonstration of autoantibodies directed to various epitopes on blood neutrophils. However, this definition is probably too limited and excludes neutropenias (NPs) with a negative autoantibody test but with other phenomena that indicate an underlying autoimmune process. Examples of such AINs may be complete or incomplete systemic lupus erythematosus or other autoimmune diseases where NP is common but patients may not fulfill formal diagnostic criteria for a rheumatic disease. Recently, various inherited immune-dysregulation syndromes, such as those related to variants in, for example, TACI, BAFFR, ACKR1/DARC, LRBA, CTLA 4 genes, with dysregulated B- and T-lymphocyte functions, have been associated with concomitant AINs. Cellular immune mechanisms may also play a prominent role in the development of NP, in the presence or not of autoantibodies, in cases of large granular lymphocyte syndromes of T- and NK-cell types or in chronic idiopathic NP, particularly in adults with T-cell clonal populations. The course of AIN may differ according to age, being transient and rather uncomplicated in children, and chronic with treatment requirement in adolescents and adults. This review discusses current knowledge of AINs, including diagnostic procedures, treatments, and prognosis.
Frontiers in immunology · 2021
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, such as vasculitis, inflammation, and hematologic manifestations. Some associations of clinical features can mimic autoimmune lymphoproliferative syndrome (ALPS). We report a case of a female patient who fulfilled the 2009 National Institute of Health revised criteria for ALPS and received a delayed diagnosis of DADA2. During her childhood, she suffered from autoimmune hemolytic anemia, immune thrombocytopenia, and chronic lymphoproliferation, which partially responded to multiple lines of treatments and were followed, at 25 years of age, by pulmonary embolism, septic shock, and bone marrow failure with myelodysplastic evolution. The patient died from the progression of pulmonary disease and multiorgan failure. Two previously unreported variants of gene ADA2/CECR1 were found through next-generation sequencing analysis, and a pathogenic role was demonstrated through a functional study. A single somatic STAT3 mutation was also found. Clinical phenotypes encompassing immune dysregulation and marrow failure should be evaluated at the early stage of diagnostic work-up with an extended molecular evaluation. A correct genetic diagnosis may lead to a precision medicine approach consisting of the use of targeted treatments or early hematopoietic stem cell transplantation.
Rheumatology (Oxford, England) · 2022
Abstract Objectives To test the usefulness of an extended panel of lymphocyte subsets in combination with Oliveira’s diagnostic criteria for the identification of autoimmune lymphoproliferative syndrome (ALPS) in children referred to a paediatric rheumatology centre. Methods Patients referred from 2015 to 2018 to our rheumatology unit for an autoimmune or autoinflammatory condition were retrospectively analysed. Oliveira’s required criteria [chronic lymphoproliferation and elevated double-negative T (DNT)] were applied as first screening. Flow cytometry study included double-negative CD4–CD8–TCRαβ+ T lymphocytes (DNT), CD25+CD3+, HLA–DR+CD3+ T cells, B220+ T cells and CD27+ B cells. Data were analysed with a univariate logistic regression analysis, followed by a multivariate analysis. Sensitivity and specificity of the Oliveira’s required criteria were calculated. Results A total of 264 patients were included in the study and classified as: (i) autoimmune diseases (n = 26); (ii) juvenile idiopathic arthritis (JIA) (35); (iii) monogenic systemic autoinflammatory disease (27); (iv) periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (100); (v) systemic undefined recurrent fever (45); (vi) undetermined-systemic autoinflammatory disease (14); or (vii) ALPS (17). Oliveira’s required criteria displayed a sensitivity of 100% and specificity of 79%. When compared with other diseases the TCRαβ+B220+ lymphocytes were significantly increased in ALPS patients. The multivariate analysis revealed five clinical/laboratory parameters positively associated to ALPS: splenomegaly, female gender, arthralgia, elevated DNT and TCRαβ+B220+ lymphocytes. Conclusions Oliveira’s required criteria are useful for the early suspicion of ALPS. TCRαβ+B220+ lymphocytes should be added in the diagnostic work-up of patients referred to the paediatric rheumatology unit for a suspected autoimmune or autoinflammatory condition, providing a relevant support in the early diagnosis of ALPS.
Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).
Journal of pediatric hematology/oncology · 2021 · Case Reports
Mazzoni M, Dell'Orso G, Grossi A, Ceccherini I, et al.
Journal of pediatric hematology/oncology · 2021 · Case Reports
Mazzoni M, Dell'Orso G, Grossi A, Ceccherini I, et al.
Frontiers in immunology · 2021 · Case Reports
Dell'Orso G, Grossi A, Penco F, Caorsi R, et al.
Rheumatology (Oxford, England) · 2022 · Journal Article
Oliveira Mendonça L, Matucci-Cerinic C, Terranova P, Casabona F, et al.
HemaSphere · 2023 · Journal Article
Fioredda F, Dufour C, Höglund P, Papadaki HA, et al.
HemaSphere · 2023 · Journal Article
Fioredda F, Dufour C, Höglund P, Papadaki HA, et al.
The Journal of allergy and clinical immunology · 2025 · Journal Article
Bulté D, Barzaghi F, Mesa-Nuñez C, Rigamonti C, et al.
Source : DataCite — DOIs pour datasets, logiciels, protocoles, registres patient. Hors articles (déjà couverts).