Associated Papers
Epstein-Barr virus infection plays a crucial role in triggering hemophagocytic lymphohistiocytosis in patients with X-linked inhibitor of apoptosis protein deficiency.
Shi L et al.
Hematology (amsterdam, Netherlands), 2025
Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency.
Topal J et al.
Journal of Clinical Immunology, 2023
Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease.
Chirieleison SM et al.
The Journal of Biological Chemistry, 2017
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Schwerd T et al.
Gut, 2017
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Prokop JW et al.
Journal of Molecular Modeling, 2017
XIAP deficiency syndrome in humans.
Latour S et al.
Seminars in Cell & Developmental Biology, 2015
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.
Dhalla F et al.
Journal of Clinical Immunology, 2015
A mutation in X-linked inhibitor of apoptosis (G466X) leads to memory inflation of Epstein-Barr virus-specific T cells.
Lopez-Granados E et al.
Clinical and Experimental Immunology, 2014
Are polymorphisms of the immunoregulatory factor CD40LG implicated in acute transfusion reactions?
Aloui C et al.
Scientific Reports, 2014
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.
Aguilar C et al.
The Journal of Allergy and Clinical Immunology, 2014
A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.
Ammann S et al.
Clinical and Experimental Immunology, 2014
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.
Speckmann C et al.
Clinical Immunology (orlando, Fla.), 2013
Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.
Damgaard RB et al.
Embo Molecular Medicine, 2013
The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from a X-linked hyper IgM syndrome kindred.
Martinez-Martinez L et al.
Molecular Immunology, 2012
Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG.
Rigaud S et al.
Blood, 2011
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).
Pachlopnik Schmid J et al.
Blood, 2011