Literature DB >> 28353164

Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome.

Asghar Aghamohammadi1,2, Hassan Abolhassani1,3,4, Jacek Puchalka5, Naschla Greif-Kohistani5, Samaneh Zoghi6,7, Christoph Klein5, Nima Rezaei8,9,10.   

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Year:  2017        PMID： 28353164     DOI： 10.1007/s10875-017-0387-5

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  24 in total

1.  Chromothriptic cure of WHIM syndrome.

Authors:  David H McDermott; Ji-Liang Gao; Qian Liu; Marie Siwicki; Craig Martens; Paejonette Jacobs; Daniel Velez; Erin Yim; Christine R Bryke; Nancy Hsu; Zunyan Dai; Martha M Marquesen; Elina Stregevsky; Nana Kwatemaa; Narda Theobald; Debra A Long Priel; Stefania Pittaluga; Mark A Raffeld; Katherine R Calvo; Irina Maric; Ronan Desmond; Kevin L Holmes; Douglas B Kuhns; Karl Balabanian; Françoise Bachelerie; Stephen F Porcella; Harry L Malech; Philip M Murphy
Journal:  Cell       Date:  2015-02-05       Impact factor: 41.582

2.  Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome.

Authors:  Gergely Kriván; Melinda Erdos; Krisztián Kállay; Gábor Benyó; Agnes Tóth; János Sinkó; Vera Goda; Beáta Tóth; László Maródi
Journal:  Eur J Haematol       Date:  2009-10-29       Impact factor: 2.997

Review 3.  Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example.

Authors:  Amir Hossein Latif; Firouzeh Tabassomi; Hassan Abolhassani; Lennart Hammarström
Journal:  Expert Rev Clin Immunol       Date:  2014-01-22       Impact factor: 4.473

4.  Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients.

Authors:  Laura Tassone; Daniele Moratto; William Vermi; Maria De Francesco; Lucia D Notarangelo; Fulvio Porta; Vassilios Lougaris; Fabio Facchetti; Alessandro Plebani; Raffaele Badolato
Journal:  Blood       Date:  2010-08-24       Impact factor: 22.113

5.  Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia.

Authors:  Steven P Treon; Yang Cao; Lian Xu; Guang Yang; Xia Liu; Zachary R Hunter
Journal:  Blood       Date:  2014-02-19       Impact factor: 22.113

6.  A case of WHIM syndrome associated with diabetes and hypothyroidism.

Authors:  Junji Takaya; Yuri Fujii; Hirohiko Higashino; Shoichiro Taniuchi; Makiko Nakamura; Kazunari Kaneko
Journal:  Pediatr Diabetes       Date:  2009-05-19       Impact factor: 4.866

Review 7.  WHIM syndrome: a defect in CXCR4 signaling.

Authors:  George A Diaz; A Virginia Gulino
Journal:  Curr Allergy Asthma Rep       Date:  2005-09       Impact factor: 4.919

Review 8.  Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome.

Authors:  L Dotta; L Tassone; R Badolato
Journal:  Curr Mol Med       Date:  2011-06       Impact factor: 2.222

9.  Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.

Authors:  Sarah Beaussant Cohen; Odile Fenneteau; Emmanuel Plouvier; Pierre-Simon Rohrlich; Gerard Daltroff; Isabelle Plantier; Alain Dupuy; Delphine Kerob; Blandine Beaupain; Pierre Bordigoni; Fanny Fouyssac; Anne-Lise Delezoide; Gilles Devouassoux; Jean François Nicolas; Philippe Bensaid; Yves Bertrand; Karl Balabanian; Christine Bellanne Chantelot; Françoise Bachelerie; Jean Donadieu
Journal:  Orphanet J Rare Dis       Date:  2012-09-25       Impact factor: 4.123

10.  Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation.

Authors:  David H McDermott; Ji-Liang Gao; Philip M Murphy
Journal:  Rare Dis       Date:  2015-08-11
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  4 in total

Review 1.  WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.

Authors:  Lauren E Heusinkveld; Shamik Majumdar; Ji-Liang Gao; David H McDermott; Philip M Murphy
Journal:  J Clin Immunol       Date:  2019-07-16       Impact factor: 8.317

2.  Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

Authors:  Hassan Abolhassani; Fatemeh Kiaee; Marzieh Tavakol; Zahra Chavoshzadeh; Seyed Alireza Mahdaviani; Tooba Momen; Reza Yazdani; Gholamreza Azizi; Sima Habibi; Mohammad Gharagozlou; Masoud Movahedi; Amir Ali Hamidieh; Nasrin Behniafard; Mohammamd Nabavi; Mohammad Hassan Bemanian; Saba Arshi; Rasol Molatefi; Roya Sherkat; Afshin Shirkani; Reza Amin; Soheila Aleyasin; Reza Faridhosseini; Farahzad Jabbari-Azad; Iraj Mohammadzadeh; Javad Ghaffari; Alireza Shafiei; Arash Kalantari; Mahboubeh Mansouri; Mehrnaz Mesdaghi; Delara Babaie; Hamid Ahanchian; Maryam Khoshkhui; Habib Soheili; Mohammad Hossein Eslamian; Taher Cheraghi; Abbas Dabbaghzadeh; Mahmoud Tavassoli; Rasoul Nasiri Kalmarzi; Seyed Hamidreza Mortazavi; Sara Kashef; Hossein Esmaeilzadeh; Javad Tafaroji; Abbas Khalili; Fariborz Zandieh; Mahnaz Sadeghi-Shabestari; Sepideh Darougar; Fatemeh Behmanesh; Hedayat Akbari; Mohammadreza Zandkarimi; Farhad Abolnezhadian; Abbas Fayezi; Mojgan Moghtaderi; Akefeh Ahmadiafshar; Behzad Shakerian; Vahid Sajedi; Behrang Taghvaei; Mojgan Safari; Marzieh Heidarzadeh; Babak Ghalebaghi; Seyed Mohammad Fathi; Behzad Darabi; Saeed Bazregari; Nasrin Bazargan; Morteza Fallahpour; Alireza Khayatzadeh; Naser Javahertrash; Bahram Bashardoust; Mohammadali Zamani; Azam Mohsenzadeh; Sarehsadat Ebrahimi; Samin Sharafian; Ahmad Vosughimotlagh; Mitra Tafakoridelbari; Maziar Rahimi; Parisa Ashournia; Anahita Razaghian; Arezou Rezaei; Setareh Mamishi; Nima Parvaneh; Nima Rezaei; Lennart Hammarström; Asghar Aghamohammadi
Journal:  J Clin Immunol       Date:  2018-10-09       Impact factor: 8.317

3.  The negative charge of the 343 site is essential for maintaining physiological functions of CXCR4.

Authors:  Liqing Wang; Qiuhong Xiong; Ping Li; Guangxin Chen; Nayab Tariq; Changxin Wu
Journal:  BMC Mol Cell Biol       Date:  2021-01-23

4.  Case Report: A Novel CXCR4 Mutation in a Chinese Child With Kawasaki Disease Causing WHIM Syndrome.

Authors:  Xiaopeng Ma; Yaping Wang; Peng Wu; Meiyun Kang; Yue Hong; Yao Xue; Chuqin Chen; Huimin Li; Yongjun Fang
Journal:  Front Immunol       Date:  2022-04-13       Impact factor: 8.786
  4 in total

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