Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Sophie Willcocks"'
Publikováno v:
Pediatric Allergy and Immunology. 34
Publikováno v:
Journal of Paediatrics and Child Health. 58:404-408
Aim: This study aims to evaluate the utility of genetic testing of patients diagnosed with periodic fever syndromes and to assess the validity of existing scoring criteria. Methods: This study retrospectively reviewed the clinical history of patients
Autor:
Olivier Brocq, Pere Soler-Palacín, Jérôme Sirvente, Brigitte Bader-Meunier, Rawane Dagher, Naoki Kitabayashi, Laureline Berteloot, Sophie Willcocks, Nadia Jeremiah, Laura Barnabei, Stefano Volpi, Eline Van Aerde, Sylvain Breton, Damien Chan, Alice Hadchouel, Vincent Bondet, Eric Jeziorski, Despina Moshous, Antonella Insalaco, Jean-Christophe Dubus, Thierry Jo Molina, Isabelle Melki, Nathalie Stremler-Le Bel, Stéphane Blanche, Marie-Anne Morren, Alain Fischer, Mireia Lopez-Corbeto, Gillian I. Rice, Marie-Louise Frémond, Carine Wouters, Yanick J. Crow, Séverine Feuillet-Soummer, Jacques G. Rivière, Françoise Mazingue, Violaine Bresson, Bénédicte Neven, Alexandre Belot, Mathieu Fusaro, Guillaume Thouvenin, Darragh Duffy, Frédéric Rieux-Laucat, Caroline Thumerelle, Luis Seabra, Marco Gattorno
Publikováno v:
Journal of Allergy and Clinical Immunology: In Practice
Journal of Allergy and Clinical Immunology: In Practice, Elsevier, 2021, 9 (2), pp.803-818.e11. ⟨10.1016/j.jaip.2020.11.007⟩
Journal of Allergy and Clinical Immunology: In Practice, 2021, 9 (2), pp.803-818.e11. ⟨10.1016/j.jaip.2020.11.007⟩
Frémond, M-L, Hadchouel, A, Berteloot, L, Melki, I, Bresson, V, Barnabei, L, Jeremiah, N, Belot, A, Bondet, V, Brocq, O, Chan, D, Dagher, R, Dubus, J-C, Duffy, D, Feuillet-Soummer, S, Fusaro, M, Gattorno, M, Insalaco, A, Jeziorski, E, Kitabayashi, N, Lopez-Corbeto, M, Mazingue, F, Morren, M-A, Rice, G I, Rivière, J G, Seabra, L, Sirvente, J, Soler-Palacin, P, Stremler-Le Bel, N, Thouvenin, G, Thumerelle, C, Van Aerde, E, Volpi, S, Willcocks, S, Wouters, C, Breton, S, Molina, T, Bader-Meunier, B, Moshous, D, Fischer, A, Blanche, S, Rieux-Laucat, F, Crow, Y J & Neven, B 2021, ' Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients ', The journal of allergy and clinical immunology. In practice . https://doi.org/10.1016/j.jaip.2020.11.007
The Journal of Allergy and Clinical Immunology: In Practice
Frémond, M-L, Hadchouel, A, Berteloot, L, Melki, I, Bresson, V, Barnabei, L, Jeremiah, N, Belot, A, Bondet, V, Brocq, O, Chan, D, Dagher, R, Dubus, J C, Duffy, D, Feuillet-Soummer, S, Fusaro, M, Gattorno, M, Insalaco, A, Jeziorski, E, Kitabayashi, N, Lopez-Corbeto, M, Mazingue, F, Morren, M-A, Rice, G, Riviere, J G, Seabra, L, Sirvente, J, Soler-Palacin, P, Stremler-Le Bel, N, Thouvenin, G, Thumerelle, C, van Aerde, E, Volpi, S, Willcocks, S, Wouters, C, Breton, S, Molina, T, Bader-Meunier, B, Moshous, D, Fischer, A, Blanche, S, Rieux-Laucat, F, Crow, Y J & Neven, B 2020, ' Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients ', The journal of allergy and clinical immunology. In practice . https://doi.org/10.1016/j.jaip.2020.11.007
Journal of Allergy and Clinical Immunology: In Practice, Elsevier, 2021, 9 (2), pp.803-818.e11. ⟨10.1016/j.jaip.2020.11.007⟩
Journal of Allergy and Clinical Immunology: In Practice, 2021, 9 (2), pp.803-818.e11. ⟨10.1016/j.jaip.2020.11.007⟩
Frémond, M-L, Hadchouel, A, Berteloot, L, Melki, I, Bresson, V, Barnabei, L, Jeremiah, N, Belot, A, Bondet, V, Brocq, O, Chan, D, Dagher, R, Dubus, J-C, Duffy, D, Feuillet-Soummer, S, Fusaro, M, Gattorno, M, Insalaco, A, Jeziorski, E, Kitabayashi, N, Lopez-Corbeto, M, Mazingue, F, Morren, M-A, Rice, G I, Rivière, J G, Seabra, L, Sirvente, J, Soler-Palacin, P, Stremler-Le Bel, N, Thouvenin, G, Thumerelle, C, Van Aerde, E, Volpi, S, Willcocks, S, Wouters, C, Breton, S, Molina, T, Bader-Meunier, B, Moshous, D, Fischer, A, Blanche, S, Rieux-Laucat, F, Crow, Y J & Neven, B 2021, ' Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients ', The journal of allergy and clinical immunology. In practice . https://doi.org/10.1016/j.jaip.2020.11.007
The Journal of Allergy and Clinical Immunology: In Practice
Frémond, M-L, Hadchouel, A, Berteloot, L, Melki, I, Bresson, V, Barnabei, L, Jeremiah, N, Belot, A, Bondet, V, Brocq, O, Chan, D, Dagher, R, Dubus, J C, Duffy, D, Feuillet-Soummer, S, Fusaro, M, Gattorno, M, Insalaco, A, Jeziorski, E, Kitabayashi, N, Lopez-Corbeto, M, Mazingue, F, Morren, M-A, Rice, G, Riviere, J G, Seabra, L, Sirvente, J, Soler-Palacin, P, Stremler-Le Bel, N, Thouvenin, G, Thumerelle, C, van Aerde, E, Volpi, S, Willcocks, S, Wouters, C, Breton, S, Molina, T, Bader-Meunier, B, Moshous, D, Fischer, A, Blanche, S, Rieux-Laucat, F, Crow, Y J & Neven, B 2020, ' Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients ', The journal of allergy and clinical immunology. In practice . https://doi.org/10.1016/j.jaip.2020.11.007
BACKGROUND: Gain-of-function mutations in STING1 underlie a type I interferonopathy termed SAVI (STING-associated vasculopathy with onset in infancy). This severe disease is variably characterized by early-onset systemic inflammation, skin vasculopat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6673a907b3ee5fe2476757333ce0d874
https://hal.umontpellier.fr/hal-03228789
https://hal.umontpellier.fr/hal-03228789