Literature DB >> 31993868

The Many Faces of XMEN Disease, Report of Two Patients with Novel Mutations.

Rodrigo Hoyos-Bachiloglu1, Sara Concha2, Pablo Sepúlveda3, Roberto Campos3, Guillermo Perez-Mateluna2, Alejandra King4,5, Pamela Zuñiga3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2020        PMID： 31993868     DOI： 10.1007/s10875-020-00746-1

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


× No keyword cloud information.
  5 in total

1.  A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease.

Authors:  Turkan Patiroglu; H Haluk Akar; Kimberly Gilmour; Ekrem Unal; M Akif Ozdemir; Shahnaz Bibi; Siobhan Burns; Samuel C Chiang; Henrich Schlums; Yenan T Bryceson; Musa Karakukcu
Journal:  Clin Immunol       Date:  2015-05-06       Impact factor: 3.969

2.  Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered.

Authors:  Dimana Dimitrova; Jeremy J Rose; Gulbu Uzel; Jeffrey I Cohen; Koneti V Rao; Jacob H Bleesing; Christopher G Kanakry; Jennifer A Kanakry
Journal:  J Clin Immunol       Date:  2018-11-23       Impact factor: 8.317

Review 3.  XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.

Authors:  Feng-Yen Li; Benjamin Chaigne-Delalande; Helen Su; Gulbu Uzel; Helen Matthews; Michael J Lenardo
Journal:  Blood       Date:  2014-02-18       Impact factor: 22.113

4.  Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Authors:  Juan C Ravell; Mami Matsuda-Lennikov; Samuel D Chauvin; Juan Zou; Matthew Biancalana; Sally J Deeb; Susan Price; Helen C Su; Giulia Notarangelo; Ping Jiang; Aaron Morawski; Chrysi Kanellopoulou; Kyle Binder; Ratnadeep Mukherjee; James T Anibal; Brian Sellers; Lixin Zheng; Tingyan He; Alex B George; Stefania Pittaluga; Astin Powers; David E Kleiner; Devika Kapuria; Marc Ghany; Sally Hunsberger; Jeffrey I Cohen; Gulbu Uzel; Jenna Bergerson; Lynne Wolfe; Camilo Toro; William Gahl; Les R Folio; Helen Matthews; Pam Angelus; Ivan K Chinn; Jordan S Orange; Claudia M Trujillo-Vargas; Jose Luis Franco; Julio Orrego-Arango; Sebastian Gutiérrez-Hincapié; Niraj Chandrakant Patel; Kimiyo Raymond; Turkan Patiroglu; Ekrem Unal; Musa Karakukcu; Alexandre Gr Day; Pankaj Mehta; Evan Masutani; Suk S De Ravin; Harry L Malech; Grégoire Altan-Bonnet; V Koneti Rao; Matthias Mann; Michael J Lenardo
Journal:  J Clin Invest       Date:  2020-01-02       Impact factor: 14.808

5.  Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.

Authors:  Immacolata Brigida; Maria Chiriaco; Silvia Di Cesare; Davide Cittaro; Gigliola Di Matteo; Stefania Giannelli; Dejan Lazarevic; Matteo Zoccolillo; Elia Stupka; Alessandro Jenkner; Paola Francalanci; Susanna Livadiotti; Aaron Morawski; Juan Ravell; Michael Lenardo; Caterina Cancrini; Alessandro Aiuti; Andrea Finocchi
Journal:  J Clin Immunol       Date:  2016-10-21       Impact factor: 8.317
  5 in total
  4 in total

Review 1.  An Update on XMEN Disease.

Authors:  Juan C Ravell; Samuel D Chauvin; Tingyan He; Michael Lenardo
Journal:  J Clin Immunol       Date:  2020-05-26       Impact factor: 8.317

2.  Case Report: EBV-Positive Extra-Nodal Marginal Zone Lymphoma Associated With XMEN Disease Caused by a Novel Hemizygous Mutation in MAGT1.

Authors:  Xin Huang; Dan Liu; Zifen Gao; Cuiling Liu
Journal:  Front Oncol       Date:  2021-03-18       Impact factor: 6.244

3.  Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients.

Authors:  Xiaomin Peng; Yi Lu; Huijun Wang; Bingbing Wu; Mingyu Gan; Suzhen Xu; Deyi Zhuang; Jianshe Wang; Jinqiao Sun; Xiaochuan Wang; Wenhao Zhou
Journal:  Front Genet       Date:  2022-01-25       Impact factor: 4.599

4.  Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.

Authors:  Christopher M Watson; Fatima Nadat; Sammiya Ahmed; Laura A Crinnion; Sean O'Riordan; Clive Carter; Sinisa Savic
Journal:  Genes Immun       Date:  2022-03-09       Impact factor: 4.248
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.