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  1. Article ; Online: Pathologies auto-inflammatoires systémiques héréditaires associées à la cryopyrine.

    Neven, Bénédicte

    La Revue du praticien

    2024  Volume 73, Issue 8, Page(s) 855–862

    Abstract: HEREDITARY SYSTEMIC AUTOINFLAMMATORY DISEASES ASSOCIATED WITH CRYOPYRIN. CAPS (cryoprine-associated periodic syndromes) are a group of auto-inflammatory diseases of varying severity, most often beginning very early in life and characterized by febrile ... ...

    Title translation Hereditary systemic autoinflammatory diseases associated with cryopyrin.
    Abstract HEREDITARY SYSTEMIC AUTOINFLAMMATORY DISEASES ASSOCIATED WITH CRYOPYRIN. CAPS (cryoprine-associated periodic syndromes) are a group of auto-inflammatory diseases of varying severity, most often beginning very early in life and characterized by febrile episodes, a pseudo-urticarial skin rash, joint manifestations and inconstantly neurosensory involvement. These symptoms may be intermittent and triggered by cold exposure but can also be chronic. Cryopyrinopathies are associated with heterozygous, gain-of-function mutations in NLRP3. These mutations are most often germline, but somatic mutations recapitulating the symptomatology are also possible. The NLRP3 gene codes for cryopyrin, an essential component of the inflammasome. The consequence of these mutations is the deregulated and excessive production of interleukin 1-β (IL1-β). Our understanding of the pathophysiology of these diseases has led to propose targeted anti-IL1 therapies, which are highly effective, significantly improving the natural history of the disease and the quality of life of patients.
    MeSH term(s) Humans ; NLR Family, Pyrin Domain-Containing 3 Protein/genetics ; Quality of Life ; Hereditary Autoinflammatory Diseases/diagnosis ; Hereditary Autoinflammatory Diseases/genetics ; Fever ; Exanthema
    Chemical Substances NLR Family, Pyrin Domain-Containing 3 Protein
    Language French
    Publishing date 2024-02-05
    Publishing country France
    Document type English Abstract ; Journal Article
    ZDB-ID 205365-2
    ISSN 2101-017X ; 0035-2640
    ISSN (online) 2101-017X
    ISSN 0035-2640
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Gene therapy for SCID, now up to 3!

    Fischer, Alain / Neven, Bénédicte

    The Journal of allergy and clinical immunology

    2023  Volume 151, Issue 5, Page(s) 1255–1256

    MeSH term(s) Humans ; Animals ; Mice ; Severe Combined Immunodeficiency/genetics ; Severe Combined Immunodeficiency/therapy ; Genetic Therapy ; Mice, SCID
    Language English
    Publishing date 2023-02-23
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2023.02.015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Hematopoietic Stem Cell Transplantation for Combined Immunodeficiencies, on Behalf of IEWP-EBMT.

    Neven, Benedicte / Ferrua, Francesca

    Frontiers in pediatrics

    2020  Volume 7, Page(s) 552

    Abstract: Combined immunodeficiencies (CIDs) are a clinically and genetically heterogeneous group of primary immunodeficiencies (PIDs) that affect T-lymphocyte immunity with abnormal development or function. As compared to severe combined immune deficiencies (SCID) ...

    Abstract Combined immunodeficiencies (CIDs) are a clinically and genetically heterogeneous group of primary immunodeficiencies (PIDs) that affect T-lymphocyte immunity with abnormal development or function. As compared to severe combined immune deficiencies (SCID), these patients are usually diagnosed later. They display a broad infectious susceptibility; immune dysregulation manifestations and chronic lymphoproliferation are also frequent. These complications and their specific treatments can lead to persistent damage to several organs. Prognosis of CIDs is worse as compared to other PIDs. The curative treatment is usually hematopoietic stem cell transplantation (HSCT), but difficult questions remain regarding the definitive indication of HSCT and its timing; the final decision depends on a conjunction of factors such as immunological parameters, severity of clinical manifestations, and natural history of the disease, when molecular diagnosis is known. CD40L deficiency, a CID caused by mutations in
    Language English
    Publishing date 2020-01-24
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2019.00552
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity.

    Hadjadj, Jérôme / Frémond, Marie-Louise / Neven, Bénédicte

    Frontiers in immunology

    2021  Volume 12, Page(s) 717388

    Abstract: Among inborn errors of immunity (IEIs), some conditions are characterized by inflammation and autoimmunity at the front line and are particularly challenging to treat. Monogenic diseases associated with gain-of-function mutations in genes critical for ... ...

    Abstract Among inborn errors of immunity (IEIs), some conditions are characterized by inflammation and autoimmunity at the front line and are particularly challenging to treat. Monogenic diseases associated with gain-of-function mutations in genes critical for cytokine signaling through the JAK-STAT pathway belong to this group. These conditions represent good candidates for treatment with JAK inhibitors. Type I interferonopathies, a group of recently identified monogenic auto-inflammatory diseases characterized by excessive secretion of type I IFN, are also good candidates with growing experiences reported in the literature. However, many questions remain regarding the choice of the drug, the dose (in particular in children), the efficacy on the various manifestations, the monitoring of the treatment, and the management of potent side effects in particular in patients with infectious susceptibility. This review will summarize the current experiences reported and will highlight the unmet needs.
    MeSH term(s) Animals ; Biomarkers ; Clinical Studies as Topic ; Disease Management ; Disease Susceptibility ; Drug Development ; Drug Evaluation, Preclinical ; Genetic Diseases, Inborn/drug therapy ; Genetic Diseases, Inborn/etiology ; Genetic Diseases, Inborn/metabolism ; Humans ; Immune System Diseases/drug therapy ; Immune System Diseases/etiology ; Immune System Diseases/metabolism ; Janus Kinase Inhibitors/administration & dosage ; Janus Kinase Inhibitors/adverse effects ; Janus Kinase Inhibitors/therapeutic use ; Janus Kinases/genetics ; Janus Kinases/metabolism ; Molecular Targeted Therapy ; Mutation ; STAT Transcription Factors/metabolism ; Signal Transduction
    Chemical Substances Biomarkers ; Janus Kinase Inhibitors ; STAT Transcription Factors ; Janus Kinases (EC 2.7.10.2)
    Language English
    Publishing date 2021-09-17
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2021.717388
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: JAK inhibition in the type I interferonopathies.

    Crow, Yanick J / Neven, Bénédicte / Frémond, Marie-Louise

    The Journal of allergy and clinical immunology

    2021  Volume 148, Issue 4, Page(s) 991–993

    MeSH term(s) Autoimmune Diseases/drug therapy ; Hereditary Autoinflammatory Diseases/drug therapy ; Humans ; Interferon Type I ; Janus Kinase Inhibitors/therapeutic use
    Chemical Substances Interferon Type I ; Janus Kinase Inhibitors
    Language English
    Publishing date 2021-08-08
    Publishing country United States
    Document type Editorial
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2021.07.028
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Physicochemical Stability Study of Oral Suspension Containing Ruxolitinib in Children with Steroid-Refractory Acute Graft-Versus-Host Disease

    Hinterlang, Mélanie / Sebti, Maria / Cotteret, Camille / Vidal, Fabrice / Neven, Bénédicte / Cisternino, Salvatore / Schlatter, Joël

    The scientific world journal. 2022 June 2, v. 2022

    2022  

    Abstract: Ruxolitinib, used in children with steroid-refractory acute graft-versus-host (GVH) disease, is currently commercially available only as a tablet adult dosage. For the paediatric population, an oral liquid would be an adapted dosage formulation. The aim ... ...

    Abstract Ruxolitinib, used in children with steroid-refractory acute graft-versus-host (GVH) disease, is currently commercially available only as a tablet adult dosage. For the paediatric population, an oral liquid would be an adapted dosage formulation. The aim of this study was to develop ruxolitinib compounded oral suspensions at 2 mg/mL by using commercial tablets in available aqueous vehicle (Inorpha) and to measure its stability at both room temperature and under refrigeration. Chemical stability of suspensions containing ruxolitinib was evaluated for 60 days based on pH, degradation, and drug content. Physical stability of the drug suspension was evaluated by visual aspect and odour. The remaining ruxolitinib concentration of the suspension was at least 95% of the initial concentration after 60 days at both temperatures. The pH, colour, and odour of the suspensions throughout the study remained unchanged with respect to the initial time point.
    Keywords adults ; ambient temperature ; color ; drugs ; liquids ; odors ; pH ; refrigeration
    Language English
    Dates of publication 2022-0602
    Publishing place Hindawi
    Document type Article
    ZDB-ID 2075968-X
    ISSN 1537-744X
    ISSN 1537-744X
    DOI 10.1155/2022/1931118
    Database NAL-Catalogue (AGRICOLA)

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  7. Article ; Online: Oral Ulcers Resolution Using IL12/23 Blockade in an Infant with Leukocyte Adhesion Deficiency Type 1.

    Fournier, Benjamin / Neven, Bénédicte / Chhun, Stéphanie / Blanche, Stéphane / Biosse Duplan, Martin

    Journal of clinical immunology

    2022  Volume 42, Issue 4, Page(s) 907–909

    MeSH term(s) CD18 Antigens ; Humans ; Infant ; Interleukin-12 ; Leukocyte-Adhesion Deficiency Syndrome/diagnosis ; Leukocyte-Adhesion Deficiency Syndrome/genetics ; Leukocyte-Adhesion Deficiency Syndrome/therapy ; Oral Ulcer/diagnosis ; Oral Ulcer/drug therapy
    Chemical Substances CD18 Antigens ; Interleukin-12 (187348-17-0)
    Language English
    Publishing date 2022-03-21
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-022-01253-1
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  8. Article ; Online: Physicochemical Stability Study of Oral Suspension Containing Ruxolitinib in Children with Steroid-Refractory Acute Graft-Versus-Host Disease.

    Hinterlang, Mélanie / Sebti, Maria / Cotteret, Camille / Vidal, Fabrice / Neven, Bénédicte / Cisternino, Salvatore / Schlatter, Joël

    TheScientificWorldJournal

    2022  Volume 2022, Page(s) 1931118

    Abstract: Ruxolitinib, used in children with steroid-refractory acute graft-versus-host (GVH) disease, is currently commercially available only as a tablet adult dosage. For the paediatric population, an oral liquid would be an adapted dosage formulation. The aim ... ...

    Abstract Ruxolitinib, used in children with steroid-refractory acute graft-versus-host (GVH) disease, is currently commercially available only as a tablet adult dosage. For the paediatric population, an oral liquid would be an adapted dosage formulation. The aim of this study was to develop ruxolitinib compounded oral suspensions at 2 mg/mL by using commercial tablets in available aqueous vehicle (Inorpha) and to measure its stability at both room temperature and under refrigeration. Chemical stability of suspensions containing ruxolitinib was evaluated for 60 days based on pH, degradation, and drug content. Physical stability of the drug suspension was evaluated by visual aspect and odour. The remaining ruxolitinib concentration of the suspension was at least 95% of the initial concentration after 60 days at both temperatures. The pH, colour, and odour of the suspensions throughout the study remained unchanged with respect to the initial time point.
    MeSH term(s) Administration, Oral ; Child ; Chromatography, High Pressure Liquid ; Drug Compounding/methods ; Drug Stability ; Drug Storage ; Graft vs Host Disease/drug therapy ; Humans ; Nitriles ; Pyrazoles ; Pyrimidines ; Steroids ; Suspensions ; Tablets
    Chemical Substances Nitriles ; Pyrazoles ; Pyrimidines ; Steroids ; Suspensions ; Tablets ; ruxolitinib (82S8X8XX8H)
    Language English
    Publishing date 2022-06-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2075968-X
    ISSN 1537-744X ; 1537-744X
    ISSN (online) 1537-744X
    ISSN 1537-744X
    DOI 10.1155/2022/1931118
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Predicting Patient Death after Allogeneic Stem Cell Transplantation for Inborn Errors Using Machine Learning (PREPAD): A European Society for Blood and Marrow Transplantation Inborn Errors Working Party Study.

    von Asmuth, Erik G J / Neven, Bénédicte / Albert, Michael H / Mohseny, Alexander B / Schilham, Marco W / Binder, Harald / Putter, Hein / Lankester, Arjan C

    Transplantation and cellular therapy

    2023  Volume 29, Issue 12, Page(s) 775.e1–775.e8

    Abstract: Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative treatment for many inborn errors of immunity, metabolism, and hematopoiesis. No predictive models are available for these disorders. We created a machine learning model using XGBoost ...

    Abstract Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative treatment for many inborn errors of immunity, metabolism, and hematopoiesis. No predictive models are available for these disorders. We created a machine learning model using XGBoost to predict survival after HSCT using European Society for Blood and Marrow Transplant registry data of 10,888 patients who underwent HSCT for inborn errors between 2006 and 2018, and compared it to a simple linear Cox model, an elastic net Cox model, and a random forest model. The XGBoost model had a cross-validated area under the curve value of .73 at 1 year, which was significantly superior to the other models, and it accurately predicted for countries excluded while training. It predicted close to 0% and >30% mortality more often than other models at 1 year, while maintaining good calibration. The 5-year survival was 94.7% in the 25% of patients at lowest risk and 62.3% in the 25% at highest risk. Within disease and donor subgroups, XGBoost outperformed the best univariate predictor. We visualized the effect of the main predictors-diagnosis, performance score, patient age and donor type-using the SHAP ML explainer and developed a stand-alone application, which can predict using the model and visualize predictions. The risk of mortality after HSCT for inborn errors can be accurately predicted using an explainable machine learning model. This exceeds the performance of models described in the literature. Doing so can help detect deviations from expected survival and improve risk stratification in trials.
    MeSH term(s) Humans ; Bone Marrow ; Retrospective Studies ; Hematopoietic Stem Cell Transplantation/adverse effects ; Transplantation, Homologous ; Machine Learning
    Language English
    Publishing date 2023-09-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3062231-1
    ISSN 2666-6367
    ISSN (online) 2666-6367
    DOI 10.1016/j.jtct.2023.09.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5082: Show issues Location:
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  10. Article: Classification internationale des déficits immunitaires primitifs.

    Neven, Bénédicte

    La Revue du praticien

    2007  Volume 57, Issue 15, Page(s) 1646–1651

    Title translation International classification of primary immunologic deficiencies.
    MeSH term(s) Humans ; Immunologic Deficiency Syndromes/classification
    Language French
    Publishing date 2007-10-15
    Publishing country France
    Document type Journal Article
    ZDB-ID 205365-2
    ISSN 2101-017X ; 0035-2640
    ISSN (online) 2101-017X
    ISSN 0035-2640
    Database MEDical Literature Analysis and Retrieval System OnLINE

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