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  1. Article ; Online: VEXAS syndrome, a new kid on the block of auto-inflammatory diseases: A hematologist's point of view.

    Heiblig, Maël / Patel, Bhavisha / Jamilloux, Yvan

    Best practice & research. Clinical rheumatology

    2023  Volume 37, Issue 1, Page(s) 101861

    Abstract: The recently discovered VEXAS syndrome is caused by the clonal expansion of hematopoietic stem or progenitor cells with acquired mutations in UBA1 gene, which encodes for a key enzyme of the ubiquitylation proteasome system. As a result, a shorter ... ...

    Abstract The recently discovered VEXAS syndrome is caused by the clonal expansion of hematopoietic stem or progenitor cells with acquired mutations in UBA1 gene, which encodes for a key enzyme of the ubiquitylation proteasome system. As a result, a shorter cytoplasmic isoform of UBA1 is transcribed, which is non-functional. The disease is characterized by non-specific and highly heterogeneous inflammatory manifestations and macrocytic anemia. VEXAS syndrome is a unique acquired hematological monogenic disease with unexpected association with hematological neoplasms. Despite its hematopoetic origin, patients with VEXAS syndrome usually present with multi-systemicinflammatory disease and are treated by physicians from many different specialties (rheumatologists, dermatologists, hematologistis, etc.). Furthermore, manifestations of VEXAS may fulfill criteria for existing diseases: relapsing polychondritis, giant cell arteritis, polyarteritis nodosa, and myelodysplastic syndrome. The goal of this review is to depict VEXAS syndrome from a hematologic point of view regarding its consequences on hematopoiesis and the current strategies on therapeutic interventions.
    MeSH term(s) Humans ; Giant Cell Arteritis ; Mutation/genetics ; Myelodysplastic Syndromes ; Proteasome Endopeptidase Complex
    Chemical Substances Proteasome Endopeptidase Complex (EC 3.4.25.1)
    Language English
    Publishing date 2023-08-30
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2052323-3
    ISSN 1532-1770 ; 1521-6942
    ISSN (online) 1532-1770
    ISSN 1521-6942
    DOI 10.1016/j.berh.2023.101861
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  2. Article ; Online: VEXAS: is it time to reshape the nosology of clonal hematopoiesis?

    Sujobert, Pierre / Largeaud, Laetitia / Jamilloux, Yvan / Heiblig, Maël / Kosmider, Olivier

    Expert review of hematology

    2023  Volume 16, Issue 7, Page(s) 495–499

    Abstract: Introduction: The recent description of VEXAS (for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) challenges the nosological framework of myelodysplastic syndromes.: Areas covered: Clonal expansion driven by somatic mutations in cancer ... ...

    Abstract Introduction: The recent description of VEXAS (for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) challenges the nosological framework of myelodysplastic syndromes.
    Areas covered: Clonal expansion driven by somatic mutations in cancer genes has been largely described in healthy aging individuals. Regarding hematopoiesis, the prevalence of clonal hematopoiesis has blurred the line between normal and pathological, especially for the definition of myelodysplastic syndromes. VEXAS syndrome further challenges the nosology as this clonal disease of hematopoiesis is also associated with dysplastic features and cytopenias.
    Expert opinion: In this perspective, we discuss whether VEXAS should be considered a genuine myelodysplastic syndrome and propose a conceptual framework to refine the nosology, based on the distinction of clonal hematopoiesis of indeterminate potential (CHIP), clonal hematopoiesis of hematological significance, and clonal hematopoiesis of other significance.
    MeSH term(s) Humans ; Clonal Hematopoiesis/genetics ; Mutation ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/pathology ; Hematopoiesis/genetics
    Language English
    Publishing date 2023-05-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 2516804-6
    ISSN 1747-4094 ; 1747-4086
    ISSN (online) 1747-4094
    ISSN 1747-4086
    DOI 10.1080/17474086.2023.2209715
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  3. Article ; Online: ROSAH syndrome: childhood-onset arthritis, hand deformities, uveitis, and splenomegaly.

    Lequain, Hippolyte / Vasseneix, Caroline / Kodjikian, Laurent / Boursier, Guilaine / Jamilloux, Yvan / Sève, Pascal

    The Lancet. Rheumatology

    2023  Volume 5, Issue 9, Page(s) e564

    MeSH term(s) Child ; Humans ; Splenomegaly/diagnostic imaging ; Arthritis, Juvenile/complications ; Hand Deformities ; Uveitis/diagnosis
    Language English
    Publishing date 2023-02-13
    Publishing country England
    Document type Journal Article
    ISSN 2665-9913
    ISSN (online) 2665-9913
    DOI 10.1016/S2665-9913(22)00360-5
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  4. Article ; Online: Functional Assessment of Disease-Associated Pyrin Variants.

    Chirita, Daria / Jamilloux, Yvan / Henry, Thomas / Magnotti, Flora

    Methods in molecular biology (Clifton, N.J.)

    2022  Volume 2523, Page(s) 179–195

    Abstract: The pyrin inflammasome detects effectors and toxins that inhibit RhoA GTPases and triggers inflammatory cytokines release and a fast cell death termed pyroptosis. Ancient plague pandemics in the Mediterranean basin have selected in the human population ... ...

    Abstract The pyrin inflammasome detects effectors and toxins that inhibit RhoA GTPases and triggers inflammatory cytokines release and a fast cell death termed pyroptosis. Ancient plague pandemics in the Mediterranean basin have selected in the human population pyrin variants that can trigger an autoinflammatory disease termed familial Mediterranean fever (FMF). In addition, distinct mutations in MEFV, the gene encoding pyrin, cause a different rare autoinflammatory disease termed pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). As of today, more than 385 MEFV variants have been described although for most of them, whether they are pathogenic variant or benign polymorphism is unknown.Here, we describe different methods using primary human monocytes or engineered monocytic cell lines to functionally characterize MEFV variants, determine their potential pathogenicity, and classify them as either FMF-like or PAAND-like variants.
    MeSH term(s) Familial Mediterranean Fever/diagnosis ; Familial Mediterranean Fever/genetics ; Humans ; Inflammasomes/metabolism ; Monocytes/metabolism ; Mutation ; Pyrin/genetics ; Pyroptosis
    Chemical Substances Inflammasomes ; MEFV protein, human ; Pyrin
    Language English
    Publishing date 2022-06-27
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1940-6029
    ISSN (online) 1940-6029
    DOI 10.1007/978-1-0716-2449-4_12
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: VEXAS: where do we stand 2 years later?

    Sujobert, Pierre / Heiblig, Maël / Jamilloux, Yvan

    Current opinion in hematology

    2022  Volume 30, Issue 2, Page(s) 64–69

    Abstract: Purpose of review: Two years after the recognition of VEXAS (for Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, we propose an extensive review of the current understanding of VEXAS pathophysiology and therapeutic options.: Recent ... ...

    Abstract Purpose of review: Two years after the recognition of VEXAS (for Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, we propose an extensive review of the current understanding of VEXAS pathophysiology and therapeutic options.
    Recent findings: Among the nearly 150 articles published about VEXAS, some have provided determinant insights into VEXAS pathophysiology and treatment. Clinical data from retrospective series support the JAK inhibitor ruxolitinib as the most efficient strategy to control inflammation, and interesting results were also described with azacytidine. Allogeneic stem cell transplantation remains the only curative option, but should be proposed to carefully selected patients.
    Summary: Although waiting for more robust evidence from prospective clinical trials, therapeutic options emerge from retrospective studies. We propose a set of criteria that should be systematically reported to harmonize the evaluation of therapeutic outcomes. This will allow the collection of high-quality data and facilitate their subsequent meta-analysis with the overall aim of improving the management of VEXAS patients.
    MeSH term(s) Humans ; Azacitidine ; Hematopoietic Stem Cell Transplantation ; Mutation ; Prospective Studies ; Retrospective Studies
    Chemical Substances Azacitidine (M801H13NRU)
    Language English
    Publishing date 2022-12-30
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1153887-9
    ISSN 1531-7048 ; 1065-6251
    ISSN (online) 1531-7048
    ISSN 1065-6251
    DOI 10.1097/MOH.0000000000000750
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  6. Article ; Online: Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.

    Jamilloux, Yvan / Magnotti, Flora

    Rheumatology (Oxford, England)

    2019  Volume 59, Issue 4, Page(s) 910–911

    MeSH term(s) Decision Making ; Familial Mediterranean Fever ; Homozygote ; Humans ; Pyrin/genetics
    Chemical Substances MEFV protein, human ; Pyrin
    Language English
    Publishing date 2019-12-05
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/kez592
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  7. Article ; Online: Intravenous anakinra for cytokine storm syndromes.

    Jamilloux, Yvan / Gerfaud-Valentin, Mathieu / Sève, Pascal

    The Lancet Rheumatology

    2020  Volume 2, Issue 9, Page(s) e521–e522

    Keywords covid19
    Language English
    Publishing date 2020-07-21
    Publishing country England
    Document type Journal Article
    ISSN 2665-9913
    ISSN (online) 2665-9913
    DOI 10.1016/S2665-9913(20)30225-3
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  8. Article ; Online: Hydroxychloroquine Therapy in Sarcoidosis-Associated Uveitis.

    Bert, Arthur / El Jammal, Thomas / Kodjikian, Laurent / Gerfaud-Valentin, Mathieu / Jamilloux, Yvan / Seve, Pascal

    Ocular immunology and inflammation

    2023  Volume 32, Issue 2, Page(s) 154–160

    Abstract: Background/purpose: To assess the efficacy and tolerance of hydroxychloroquine in sarcoidosis-associated uveitis.: Methods: Retrospective study on all patients with sarcoidosis-associated uveitis who were treated with hydroxychloroquine between 2003 ... ...

    Abstract Background/purpose: To assess the efficacy and tolerance of hydroxychloroquine in sarcoidosis-associated uveitis.
    Methods: Retrospective study on all patients with sarcoidosis-associated uveitis who were treated with hydroxychloroquine between 2003 and 2019 in a French university hospital.
    Results: Twenty-seven patients with sarcoidosis-associated uveitis received hydroxychloroquine. The mean duration of treatment was 20.0 ± 10.9 months. At the end of the follow-up, hydroxychloroquine success was achieved in 15 (55.6%) patients. Four of them were also on oral corticosteroids, with a prednisone dose ≤5 mg/day. Under treatment, the median prednisone dose decreased from 20.0 (interquartile range (IQR), 7-25) to 5.0 (IQR, 3-6.5) mg/day (
    Conclusion: Hydroxychloroquine appears as an interesting option in sarcoidosis-associated uveitis.
    MeSH term(s) Humans ; Immunosuppressive Agents/therapeutic use ; Prednisone/therapeutic use ; Hydroxychloroquine/therapeutic use ; Retrospective Studies ; Uveitis/complications ; Uveitis/diagnosis ; Uveitis/drug therapy ; Methotrexate/therapeutic use ; Mycophenolic Acid/therapeutic use ; Mycophenolic Acid/adverse effects ; Sarcoidosis/complications ; Sarcoidosis/diagnosis ; Sarcoidosis/drug therapy ; Treatment Outcome
    Chemical Substances Immunosuppressive Agents ; Prednisone (VB0R961HZT) ; Hydroxychloroquine (4QWG6N8QKH) ; Methotrexate (YL5FZ2Y5U1) ; Mycophenolic Acid (HU9DX48N0T)
    Language English
    Publishing date 2023-02-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 1193873-0
    ISSN 1744-5078 ; 0927-3948
    ISSN (online) 1744-5078
    ISSN 0927-3948
    DOI 10.1080/09273948.2023.2165952
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  9. Article: Management of Non-Infectious Uveitis, a Selection of Topical Items Updating.

    Sève, Pascal / El Jammal, Thomas / Gerfaud-Valentin, Mathieu / Kodjikian, Laurent / Jamilloux, Yvan / Jacquot, Robin

    Journal of clinical medicine

    2022  Volume 11, Issue 19

    Abstract: First of all, we would like to thank all of the authors for their contributions and the editorial staff who enabled the achievement of this «Diagnosis and Management of Non-infectious Uveitis: Old and New Challenges» Special Issue [ ... ]. ...

    Abstract First of all, we would like to thank all of the authors for their contributions and the editorial staff who enabled the achievement of this «Diagnosis and Management of Non-infectious Uveitis: Old and New Challenges» Special Issue [...].
    Language English
    Publishing date 2022-09-22
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm11195558
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  10. Article ; Online: Adult-onset Kawasaki-like disease as a paraneoplastic syndrome.

    Lequain, Hippolyte / Fraison, Jean Baptiste / Ledoult, Emmanuel / Morell-Dubois, Sandrine / Jamilloux, Yvan / Sève, Pascal

    Rheumatology (Oxford, England)

    2022  Volume 61, Issue 8, Page(s) e227–e228

    MeSH term(s) Adult ; Humans ; Mucocutaneous Lymph Node Syndrome/complications ; Mucocutaneous Lymph Node Syndrome/diagnosis ; Paraneoplastic Syndromes/etiology
    Language English
    Publishing date 2022-03-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/keac182
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