Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Beaussant Cohen Sarah"'
Autor:
Beaussant Cohen Sarah, Fenneteau Odile, Plouvier Emmanuel, Rohrlich Pierre-Simon, Daltroff Gerard, Plantier Isabelle, Dupuy Alain, Kerob Delphine, Beaupain Blandine, Bordigoni Pierre, Fouyssac Fanny, Delezoide Anne-Lise, Devouassoux Gilles, Nicolas Jean François, Bensaid Philippe, Bertrand Yves, Balabanian Karl, Chantelot Christine Bellanne, Bachelerie Françoise, Donadieu Jean
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 71 (2012)
Abstract Background WHIM syndrome (WS), a rare congenital neutropenia due to mutations of the CXCR4 chemokine receptor, is associated with Human Papillomavirus (HPV)-induced Warts, Hypogammaglobulinemia, bacterial Infections and Myelokathexis. The lo
Externí odkaz:
https://doaj.org/article/ed0c4eded6aa49b4b0e23109281ed9e4
Autor:
Dale, David C. *, Firkin, Frank, Bolyard, Audrey Anna, Kelley, Merideth, Makaryan, Vahagn, Gorelick, Kenneth J., Ebrahim, Tarek, Garg, Varun, Tang, Weihua, Jiang, Honghua, Skerlj, Renato, Beaussant Cohen, Sarah
Publikováno v:
In Blood 24 December 2020 136(26):2994-3003
Akademický článek
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Autor:
Wallace, Jacqueline G., Alosaimi, Mohammed F., Khayat, Claudia Djambas, Jaber, Faris, Almutairi, Abduarahman, Beaussant-Cohen, Sarah, Pinkus, Geraldine, Fleming, Mark, Mehawej, Cybel, Chou, Janet, Geha, Raif S.
Publikováno v:
In The Journal of Allergy and Clinical Immunology February 2021 147(2):743-745
Akademický článek
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Autor:
Beaussant-Cohen, Sarah, Jaber, Faris, Massaad, Michel J., Weeks, Sabrina, Jones, Jennifer, Alosaimi, Mohammed F., Wallace, Jacqueline, Al-Herz, Waleed, Geha, Raif S., Chou, Janet
Publikováno v:
In The Journal of Allergy and Clinical Immunology August 2019 144(2):606-608
Autor:
Calzoni, Enrica, Platt, Craig D., Keles, Sevgi, Kuehn, Hye Sun, Beaussant-Cohen, Sarah, Zhang, Yu, Pazmandi, Julia, Lanzi, Gaetana, Pala, Francesca, Tahiat, Azzeddine, Artac, Hasibe, Heredia, Raul Jimenez, Dmytrus, Jasmin, Reisli, Ismail, Uygun, Vedat, Uygun, Dilara, Bingol, Aysen, Basaran, Erdem, Djenouhat, Kamel, Benhalla, Nafissa, Bendahmane, Chafa, Emiroglu, Melike, Kirchhausen, Tomas, Pasham, Mithun, Jones, Jennifer, Wallace, Jacqueline G., Zheng, Lixin, Boisson, Bertrand, Porta, Fulvio, Rosenzweig, Sergio D., Su, Helen, Giliani, Silvia, Lenardo, Michael, Geha, Raif S., Boztug, Kaan, Chou, Janet, Notarangelo, Luigi D.
Publikováno v:
In The Journal of Allergy and Clinical Immunology June 2019 143(6):2317-2321
Publikováno v:
Blood. 130:2491-2498
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a genetic disease characterized by neutropenia, lymphopenia, susceptibility to infections, and myelokathexis, which describes degenerative changes of mature neutrophils an
Autor:
Beaussant-Cohen, Sarah, Jaber, Faris, Massaad, Michel J., Weeks, Sabrina, Jones, Jennifer, Alosaimi, Mohammed F., Wallace, Jacqueline, Al-Herz, Waleed, Geha, Raif S., Chou, Janet
Publikováno v:
J Allergy Clin Immunol
This study reports a homozygous mutation in REL abrogating c-Rel protein expression in a patient with combined immunodeficiency characterized by susceptibility to Mycobacterium tuberculosis, Salmonella, Cryptosporidium, and cytomegalovirus.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6f3c028f04b7c9934cf580d677c75def
https://europepmc.org/articles/PMC6688935/
https://europepmc.org/articles/PMC6688935/