MB Jordan, CE Allen, S Weitzman… - Blood, The Journal …, 2011 - ashpublications.org
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathologic immune activation, occurring as either a familial disorder or a sporadic condition, in association with a variety of …
FY Li, B Chaigne-Delalande, C Kanellopoulou… - Nature, 2011 - nature.com
Abstract The magnesium ion, Mg2+, is essential for all life as a cofactor for ATP, polyphosphates such as DNA and RNA, and metabolic enzymes, but whether it plays a part …
The magnesium transporter 1 (MAGT1) is a critical regulator of basal intracellular free magnesium (Mg2+) concentrations. Individuals with genetic deficiencies in MAGT1 have …
The mammalian immune system has evolved over many millennia to be best equipped to protect the host from pathogen infection. In many cases, host and pathogen have coevolved …
JI Cohen - Epstein Barr Virus Volume 1: One Herpes Virus: Many …, 2015 - Springer
Epstein-Barr virus (EBV) infects nearly all humans and usually is asymptomatic, or in the case of adolescents and young adults, it can result in infectious mononucleosis. EBV …
ACA Mudde, C Booth, RA Marsh - Frontiers in Pediatrics, 2021 - frontiersin.org
X-linked inhibitor of apoptosis (XIAP) deficiency is a rare inborn error of immunity first described in 2006. XIAP deficiency is characterised by immune dysregulation and a broad …
C Speckmann, K Lehmberg, MH Albert… - Clinical …, 2013 - Elsevier
X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially described in patients with X-linked lymphoproliferative syndrome (XLP) who had no …
Y Zeissig, BS Petersen, S Milutinovic, E Bosse, G Mayr… - Gut, 2015 - gut.bmj.com
Objective The genetic basis of inflammatory bowel disease (IBD) is incompletely understood. The aim of this study was to identify rare genetic variants involved in the …
J Pagel, K Beutel, K Lehmberg, F Koch… - Blood, The Journal …, 2012 - ashpublications.org
Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically determined hyperinflammatory syndrome caused by uncontrolled immune response mediated by T …