Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
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
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
Comprehensive flow cytometry-based diagnosis of XIAP deficiency.
Tomomasa D et al.
Clinical and Experimental Immunology, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Absent X-linked inhibitor of apoptosis protein expression in T cell blasts and causal mutations including non-coding deletion.
Abdrabou SSMA et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Deficiency in X-linked inhibitor of apoptosis protein promotes susceptibility to microbial triggers of intestinal inflammation.
Strigli A et al.
Science Immunology, 2021
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
Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.
Sasahara Y et al.
Frontiers in Immunology, 2021
Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.
Uchida T et al.
Journal of Pediatric Gastroenterology and Nutrition, 2020
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2019
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
Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study.
Suzuki T et al.
Journal of Clinical Immunology, 2017
Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.
Ono S et al.
Journal of Clinical Immunology, 2017
Successful Allogeneic Hematopoietic Stem Cell Transplantation in XIAP Deficiency Using Reduced-Intensity Conditioning.
Chellapandian D et al.
Pediatric Blood & Cancer, 2016
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B et al.
Genome Medicine, 2015
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
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
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes.
Marsh RA et al.
Blood, 2013
Clinical and genetic characteristics of XIAP deficiency in Japan.
Yang X et al.
Journal of Clinical Immunology, 2012