Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously...

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Detalles Bibliográficos
Autores principales: Geier, Christoph B., Ellison, Maryssa, Cruz, Rachel, Pawar, Sumit, Leiss-Piller, Alexander, Zmajkovicova, Katarina, McNulty, Shannon M, Yilmaz, Melis, Evans, Martin Oman, Gordon, Sumai, Ujhazi, Boglarka, Wiest, Ivana, Abolhassani, Hassan, Aghamohammadi, Asghar, Barmettler, Sara, Bhar, Saleh, Bondarenko, Anastasia, Bolyard, Audrey Anna, Buchbinder, David, Cada, Michaela, Cavieres, Mirta, Connelly, James A., Dale, David C., Deordieva, Ekaterina, Dorsey, Morna J., Drysdale, Simon B., Ehl, Stephan, Elfeky, Reem, Fioredda, Francesca, Firkin, Frank, Förster-Waldl, Elizabeth, Geng, Bob, Goda, Vera, Gonzalez-Granado, Luis, Grunebaum, Eyal, Grzesk, Elzbieta, Henrickson, Sarah E., Hilfanova, Anna, Hiwatari, Mitsuteru, Imai, Chihaya, Ip, Winnie, Jyonouchi, Soma, Kanegane, Hirokazu, Kawahara, Yuta, Khojah, Amer M., Kim, Vy Hong-Diep, Kojić, Marina, Kołtan, Sylwia, Krivan, Gergely, Langguth, Daman, Lau, Yu-Lung, Leung, Daniel, Miano, Maurizio, Mersyanova, Irina, Mousallem, Talal, Muskat, Mica, Naoum, Flavio A., Noronha, Suzie A., Ouederni, Monia, Ozono, Shuichi, Richmond, G. Wendell, Sakovich, Inga, Salzer, Ulrich, Schuetz, Catharina, Seeborg, Filiz Odabasi, Sharapova, Svetlana O., Sockel, Katja, Volokha, Alla, von Bonin, Malte, Warnatz, Klaus, Wegehaupt, Oliver, Weinberg, Geoffrey A., Wong, Ke-Juin, Worth, Austen, Yu, Huang, Zharankova, Yulia, Zhao, Xiaodong, Devlin, Lisa, Badarau, Adriana, Csomos, Krisztian, Keszei, Marton, Pereira, Joao, Taveras, Arthur G, Beaussant-Cohen, Sarah L., Ong, Mei-Sing, Shcherbina, Anna, Walter, Jolan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700649/
https://www.ncbi.nlm.nih.gov/pubmed/35947323
http://dx.doi.org/10.1007/s10875-022-01312-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700649/
https://www.ncbi.nlm.nih.gov/pubmed/35947323
http://dx.doi.org/10.1007/s10875-022-01312-7

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