Literature DB >> 25956530

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

Turkan Patiroglu1, H Haluk Akar2, Kimberly Gilmour3, Ekrem Unal4, M Akif Ozdemir4, Shahnaz Bibi5, Siobhan Burns6, Samuel C Chiang7, Henrich Schlums7, Yenan T Bryceson7, Musa Karakukcu4.   

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Year:  2015        PMID: 25956530     DOI: 10.1016/j.clim.2015.04.015

Source DB:  PubMed          Journal:  Clin Immunol        ISSN: 1521-6616            Impact factor:   3.969


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  18 in total

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

Authors:  Rodrigo Hoyos-Bachiloglu; Sara Concha; Pablo Sepúlveda; Roberto Campos; Guillermo Perez-Mateluna; Alejandra King; Pamela Zuñiga
Journal:  J Clin Immunol       Date:  2020-01-28       Impact factor: 8.317

Review 2.  N-linked glycosylation and homeostasis of the endoplasmic reticulum.

Authors:  Natalia Cherepanova; Shiteshu Shrimal; Reid Gilmore
Journal:  Curr Opin Cell Biol       Date:  2016-04-14       Impact factor: 8.382

3.  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

4.  Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.

Authors:  Elizabeth M Klinken; Paul E Gray; Bethany Pillay; Lisa Worley; Emily S J Edwards; Kathryn Payne; Bruce Bennetts; Dorothy Hung; Ben A Wood; Jonathan J Chan; Glenn M Marshall; Richard Mitchell; Gulbu Uzel; Cindy S Ma; Stuart G Tangye; Andrew McLean-Tooke
Journal:  J Clin Immunol       Date:  2019-12-21       Impact factor: 8.317

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

Review 6.  Epstein-Barr Virus-Specific Immune Control by Innate Lymphocytes.

Authors:  Christian Münz
Journal:  Front Immunol       Date:  2017-11-24       Impact factor: 7.561

Review 7.  Human immunity against EBV-lessons from the clinic.

Authors:  Stuart G Tangye; Umaimainthan Palendira; Emily S J Edwards
Journal:  J Exp Med       Date:  2017-01-20       Impact factor: 14.307

Review 8.  CDG Therapies: From Bench to Bedside.

Authors:  Sandra Brasil; Carlota Pascoal; Rita Francisco; Dorinda Marques-da-Silva; Giuseppina Andreotti; Paula A Videira; Eva Morava; Jaak Jaeken; Vanessa Dos Reis Ferreira
Journal:  Int J Mol Sci       Date:  2018-04-27       Impact factor: 5.923

9.  Combined immunodeficiencies: twenty years experience from a single center in Turkey.

Authors:  H Haluk Akar; Turkan Patiroglu; Michael Hershfield; Mirjam van der Burg
Journal:  Cent Eur J Immunol       Date:  2016-01-20       Impact factor: 2.085

Review 10.  Impaired Control of Epstein-Barr Virus Infection in B-Cell Expansion with NF-κB and T-Cell Anergy Disease.

Authors:  Swadhinya Arjunaraja; Pamela Angelus; Helen C Su; Andrew L Snow
Journal:  Front Immunol       Date:  2018-02-08       Impact factor: 7.561

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