Zobrazeno 1 - 10
of 13
pro vyhledávání: '"William Piterboth"'
Autor:
Elma El Khouri, Farah Diab, Camille Louvrier, Eman Assrawi, Aphrodite Daskalopoulou, Alexandre Nguyen, William Piterboth, Samuel Deshayes, Alexandra Desdoits, Bruno Copin, Florence Dastot Le Moal, Sonia Athina Karabina, Serge Amselem, Achille Aouba, Irina Giurgea
Publikováno v:
eLife, Vol 12 (2023)
A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3, the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lac
Externí odkaz:
https://doaj.org/article/6a0d2246ad474a82a3c81c6805a3840a
Autor:
Fawaz Awad, Eman Assrawi, Claire Jumeau, Sophie Georgin-Lavialle, Laetitia Cobret, Philippe Duquesnoy, William Piterboth, Lucie Thomas, Katia Stankovic-Stojanovic, Camille Louvrier, Irina Giurgea, Gilles Grateau, Serge Amselem, Sonia-Athina Karabina
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0175336 (2017)
Inflammasomes are multiprotein complexes nucleating around an NLR (Nucleotide-binding domain and Leucine-rich Repeat containing protein), which regulate the secretion of the pro-inflammatory interleukin (IL)-1β and IL-18 cytokines. Monocytes and mac
Externí odkaz:
https://doaj.org/article/e411abc7df9946bca63ba97d0c5193be
Autor:
Camille Louvrier, Elma El Khouri, Martine Grall Lerosey, Pierre Quartier, Anne‐Marie Guerrot, Brigitte Bader Meunier, Julie Chican, Malaïka Mohammad, Eman Assrawi, Aphrodite Daskalopoulou, Angela Arenas Garcia, Bruno Copin, William Piterboth, Florence Dastot Le Moal, Sonia A. Karabina, Serge Amselem, Irina Giurgea
Publikováno v:
Arthritis & Rheumatology. 75:468-474
To identify the molecular basis of a severe systemic autoinflammatory disorder (SAID) and define its main phenotypic features, and to functionally assess the sequence variations identified in LYN, a gene encoding a nonreceptor tyrosine kinase.We used
Autor:
Eman Assrawi, Camille Louvrier, Elma El Khouri, Jérémie Delaleu, Bruno Copin, Florence Dastot-Le Moal, William Piterboth, Marie Legendre, Sonia A Karabina, Gilles Grateau, Serge Amselem, Irina Giurgea
Publikováno v:
Rheumatology
Rheumatology, Oxford University Press (OUP), 2022, Online ahead of print. ⟨10.1093/rheumatology/keac274⟩
Rheumatology, Oxford University Press (OUP), 2022, Online ahead of print. ⟨10.1093/rheumatology/keac274⟩
Objective To identify the molecular basis of a systemic autoinflammatory disorder (SAID) evocative of TNF receptor-associated periodic syndrome (TRAPS). Methods (i) Deep next generation sequencing (NGS) through a SAID gene panel; (ii) variant allele
Identification of an A20 critical region harboring missense variations that lead to autoinflammation
Autor:
Elma El Khouri, Camille Louvrier, Eman Assrawi, Alexandre Nguyen, William Piterboth, Samuel Deshayes, Alexandra Desdoits, Bruno Copin, Florence Dastot Le Moal, Sonia-Athina Karabina, Serge Amselem, Achille Aouba, Irina Giurgea
A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3, the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d83d522c934252050ed9dd53037f0a4b
https://doi.org/10.1101/2022.07.29.502017
https://doi.org/10.1101/2022.07.29.502017
Autor:
Camille Louvrier, Fawaz Awad, Anne Cosnes, Elma El Khouri, Eman Assrawi, Aphrodite Daskalopoulou, Bruno Copin, Hélène Bocquet, Sandra Chantot Bastaraud, Angela Arenas Garcia, Florence Dastot Le Moal, Pierre De La Grange, Philippe Duquesnoy, Chiara I. Guerrera, William Piterboth, Nicolas Ortonne, Olivier Chosidow, Sonia A. Karabina, Serge Amselem, Irina Giurgea
Publikováno v:
Journal of Allergy and Clinical Immunology
Journal of Allergy and Clinical Immunology, 2022, Online ahead of print. ⟨10.1016/j.jaci.2022.06.016⟩
Journal of Allergy and Clinical Immunology, Elsevier, 2022, Online ahead of print. ⟨10.1016/j.jaci.2022.06.016⟩
Journal of Allergy and Clinical Immunology, 2022, Online ahead of print. ⟨10.1016/j.jaci.2022.06.016⟩
Journal of Allergy and Clinical Immunology, Elsevier, 2022, Online ahead of print. ⟨10.1016/j.jaci.2022.06.016⟩
International audience; Background. Urticarial lesions are observed in both cutaneous and systemic disorders. Familial forms of urticarial syndromes are rare and can be encountered in systemic auto-inflammatory diseases.Objective. We investigated a l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be48eeae829bba309a648118ae6a589d
https://www.hal.inserm.fr/inserm-03776857/document
https://www.hal.inserm.fr/inserm-03776857/document
Autor:
Irina Giurgea, Marie Legendre, Claire Le Jeunne, Gilles Grateau, Véronique Despert, Sandra Chantot-Bastaraud, Claire Jumeau, Philippe Duquesnoy, William Piterboth, Jean Pierre Siffroi, Eman Assrawi, Aleth Perdriger, Sophie Georgin-Lavialle, Serge Amselem, Fawaz Awad, Sylvie Odent, Genevieve Quenum‐Miraillet, Gérard Cam, Camille Louvrier, Laetitia Cobret, Sonia-Athina Karabina, Bruno Copin
Publikováno v:
Acr Open Rheumatology
ACR Open Rheumatology
ACR Open Rheumatology, Wiley, 2019, 1 (4), pp.267-276. ⟨10.1002/acr2.1039⟩
ACR Open Rheumatology
ACR Open Rheumatology, Wiley, 2019, 1 (4), pp.267-276. ⟨10.1002/acr2.1039⟩
International audience; Objective: To determine the molecular and cellular bases of autoinflammatory syndromes in a multigenerational French family with Muckle-Wells syndrome and in a patient originating from Portugal with familial cold autoinflammat
Autor:
Sonia Karabina, Chiara Guerrera, Sandra Chantot Bastaraud, Elma El Khouri, Camille Louvrier, Anne Cosnes, Philippe Duquesnoy, William Piterboth, Bruno Copin, Nicolas Ortonne, Florence Dastot-Le Moal, Eman Assrawi, Pierre De La Grange, Angela Arenas Garcia, Olivier Chosidow, Hélène Bocquet, Fawaz Awad, Serge Amselem, Irina Giurgea
Publikováno v:
Journées Dermatologiques de Paris
Journées Dermatologiques de Paris, Nov 2021, Paris, France. pp.A145-A146, ⟨10.1016/j.fander.2021.09.589⟩
Journées Dermatologiques de Paris, Nov 2021, Paris, France. pp.A145-A146, ⟨10.1016/j.fander.2021.09.589⟩
Introduction Les lesions urticariennes chroniques peuvent etre associees a des maladies auto-inflammatoires monogeniques (cryopyrinopathies) ou multifactorielles. Nous rapportons une famille pour laquelle aucune cause connue n’a ete identifiee. Mat
Autor:
Noémie Lachaume, Fawaz Awad, Bruno Copin, Serge Amselem, Camille Louvrier, Emmanuelle Bourrat, Claire Jumeau, Philippe Duquesnoy, Sonia Karabina, Eman Assrawi, Bérengère Cador-Rousseau, Elma El Khouri, G. Grateau, William Piterboth, S. Georgin-Lavialle, Marie Legendre, Isabelle Melki, Irina Giurgea
Publikováno v:
Journal of Allergy and Clinical Immunology
Journal of Allergy and Clinical Immunology, Elsevier, 2020, 145 (4), pp.1254-1261. ⟨10.1016/j.jaci.2019.11.035⟩
Journal of Allergy and Clinical Immunology, Elsevier, 2020, 145 (4), pp.1254-1261. ⟨10.1016/j.jaci.2019.11.035⟩
International audience; Background: NLRP3-associated autoinflammatory diseases (NLRP3-AIDs) include conditions of various severities, due to germline or somatic mosaic NLRP3 mutations.Objective: To identify mosaic- versus germline-specific NLRP3 muta
Autor:
Serge Amselem, Irina Giurgea, Gilles Grateau, Florence Moinet, Jean-David Bouaziz, Sonia Karabina, Camille Louvrier, Bruno Copin, Sophie Georgin-Lavialle, Elma El Khouri, Philippe Duquesnoy, William Piterboth, Eman Assrawi, Marie Dominique Vignon-Pennamen, Fawaz Awad, Marie Legendre, Laetitia Cobret, Claire Jumeau, Philippe Moguelet, Clémence Lepelletier
Publikováno v:
Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2020, 140, pp.791-798.e2. ⟨10.1016/j.jid.2019.06.153⟩
Journal of Investigative Dermatology, Nature Publishing Group, 2020, 140, pp.791-798.e2. ⟨10.1016/j.jid.2019.06.153⟩
Chronic urticaria is a common skin disorder with heterogeneous causes. In the absence of physical triggers, chronic urticarial rash is called idiopathic or spontaneous. The objective of this study was to identify the molecular and cellular bases of a