Associated Papers
Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1.
Engelmann C et al.
Cell Death & Disease, 2022
36270981 (PubMed )
Supplement: 41419_2022_5337_MOESM9_ESM.xlsx › Sheet1
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Prokop JW et al.
Journal of Molecular Modeling, 2017
A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.
Ammann S et al.
Clinical and Experimental Immunology, 2014
Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.
Damgaard RB et al.
Embo Molecular Medicine, 2013
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes.
Marsh RA et al.
Blood, 2013
The ubiquitin ligase XIAP recruits LUBAC for NOD2 signaling in inflammation and innate immunity.
Damgaard RB et al.
Molecular Cell, 2012
XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.
Marsh RA et al.
Blood, 2010
A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency.
Marsh RA et al.
Cytometry. Part B, Clinical Cytometry, 2009
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