Associated Papers
Genetic and Clinical Characteristics of Difficult-To-Treat Crohn's Disease: Trio-Based Exome Sequencing in 24 Families.
Wu HB et al.
Journal of Digestive Diseases, 2025
Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency.
Topal J et al.
Journal of Clinical Immunology, 2023
Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency.
Ono S et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2021
Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency.
Inoue K et al.
Transplant Infectious Disease : an Official Journal of the Transplantation Society, 2020
Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.
Lekbua A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2019
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Prokop JW et al.
Journal of Molecular Modeling, 2017
Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.
Ono S et al.
Journal of Clinical Immunology, 2017
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
Kelsen JR et al.
Bmc Gastroenterology, 2015
Successful treatment of idiopathic colitis related to XIAP deficiency with allo-HSCT using reduced-intensity conditioning.
Tsuma Y et al.
Pediatric Transplantation, 2015
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
Clinical and genetic characteristics of XIAP deficiency in Japan.
Yang X et al.
Journal of Clinical Immunology, 2012
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
Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen?
Karow A et al.
Haematologica, 2010
HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.
Aguilar-Martinez P et al.
Haematologica, 2010
A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly.
Zhao M et al.
Haematologica, 2010