Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in pediatric Inflammatory Bowel Disease: clinical characteristics and outcomes.
Bramuzzo M et al.
European Journal of Pediatrics, 2024
Maternal Gonosomal Mosaicism Causes XIAP Deficiency.
Tomomasa D 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
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience.
Lega S et al.
Inflammatory Bowel Diseases, 2020
Genetic profile of patients with early onset inflammatory bowel disease.
Girardelli M et al.
Gene, 2018
Successful allogeneic hematopoietic stem cell transplantation in a boy with X-linked inhibitor of apoptosis deficiency presenting with hemophagocytic lymphohistiocytosis: A case report.
Jiang MY et al.
Experimental and Therapeutic Medicine, 2016
The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency.
Girardelli M et al.
Bmc Pediatrics, 2015
A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.
Ammann S et al.
Clinical and Experimental Immunology, 2014
Clinical and genetic characteristics of XIAP deficiency in Japan.
Yang X et al.
Journal of Clinical Immunology, 2012
Select a paper to view details