Associated Papers
Understanding the molecular mechanism of pathogenic variants of BIR2 domain in XIAP-deficient inflammatory bowel disease.
Lee J et al.
Scientific Reports, 2024
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
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2019
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Prokop JW et al.
Journal of Molecular Modeling, 2017
Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.
Gifford CE et al.
Cytometry. Part B, Clinical Cytometry, 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
Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease.
Marsh RA et al.
Annals of the New York Academy of Sciences, 2011
X-linked lymphoproliferative syndromes: brothers or distant cousins?
Filipovich AH et al.
Blood, 2010
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
Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations.
Marsh RA et al.
Clinical Immunology (orlando, Fla.), 2009
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