PMC Articles for MedGen (Select 1805285) - PMC

Select item 100668201.

When to Suspect Inborn errors of Immunity in Epstein-Barr virus-related Lymphoproliferative disorders

Keith A. Sacco, Luigi D. Notarangelo, Ottavia M. Delmonte

Clin Microbiol Infect. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Clin Microbiol Infect. 2023 Apr; 29(4): 457–462. Published online 2022 Oct 6. doi: 10.1016/j.cmi.2022.10.003

PMCID:: PMC10066820

Abstract Article PDF–440K

Select item 92012642.

T Cell Abnormalities in X-Linked Agammaglobulinaemia: an Updated Review

Sanchi Chawla, Ankur Kumar Jindal, Kanika Arora, Rahul Tyagi, Manpreet Dhaliwal, Amit Rawat

Clin Rev Allergy Immunol. 2022 Jun 16 : 1–12. doi: 10.1007/s12016-022-08949-7 [Epub ahead of print]

PMCID:: PMC9201264

Abstract Article PDF–1.6M

Select item 81475573.

Case Report: VEXAS Syndrome: From Mild Symptoms to Life-Threatening Macrophage Activation Syndrome

Frederik Staels, Albrecht Betrains, F. J. Sherida H. Woei-A-Jin, Nancy Boeckx, Marielle Beckers, An Bervoets, Mathijs Willemsen, Barbara Neerinckx, Stephanie Humblet-Baron, Daniel Engelbert Blockmans, Steven Vanderschueren, Rik Schrijvers

Front Immunol. 2021; 12: 678927. Published online 2021 Apr 23. doi: 10.3389/fimmu.2021.678927

Correction in:: Front Immunol. 2021; 12: 748756.

PMCID:: PMC8147557

Abstract Article PDF–9.3M

Select item 58906294.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors

Angeliki Giannelou, Hongying Wang, Qing Zhou, Yong Hwan Park, Mones S Abu-Asab, Kris Ylaya, Deborah L Stone, Anna Sediva, Rola Sleiman, Lucie Sramkova, Deepika Bhatla, Elisavet Serti, Wanxia Li Tsai, Dan Yang, Kevin Bishop, Blake Carrington, Wuhong Pei, Natalie Deuitch, Stephen Brooks, Jehad H Edwan, Sarita Joshi, Seraina Prader, Daniela Kaiser, William C Owen, Abdullah Al Sonbul, Yu Zhang, Julie E Niemela, Shawn M Burgess, Manfred Boehm, Barbara Rehermann, JaeJin Chae, Martha M Quezado, Amanda K Ombrello, Rebecca H Buckley, Alexi A Grom, Elaine F Remmers, Jana M Pachlopnik, Helen C Su, Gustavo Gutierrez-Cruz, Stephen M Hewitt, Raman Sood, Kimberly Risma, Katherine R Calvo, Sergio D Rosenzweig, Massimo Gadina, Markus Hafner, Hong-Wei Sun, Daniel L Kastner, Ivona Aksentijevich

Ann Rheum Dis. 2018 Apr; 77(4): 612–619. Published online 2018 Jan 22. doi: 10.1136/annrheumdis-2017-212401

PMCID:: PMC5890629

Abstract Article PDF–7.5M

Select item 43643845.

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

Bertrand Boisson, Pierre Quartier, Jean-Laurent Casanova

Curr Opin Immunol. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Curr Opin Immunol. 2015 Feb; 0: 90–105. Published online 2015 Jan 31. doi: 10.1016/j.coi.2015.01.005

PMCID:: PMC4364384

Abstract Article PDF–430K

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