Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
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Author / Creator
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 and Walter, Jolan E.
Publisher
New York: Springer US
Journal title
Language
English
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Publisher
New York: Springer US
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More information
Scope and Contents
Contents
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 unreported, with variable clinical phenoty...
Alternative Titles
Full title
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2740173454
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2740173454
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-022-01312-7
