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
CD62-L down-regulation after L18-MDP stimulation as a complementary flow cytometry functional assay for the diagnosis of XIAP deficiency.
Rizzo AD et al.
Cytometry. Part B, Clinical Cytometry, 2024
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
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
Hemophagocytic lymphohistiocytosis secondary to X-linked lymphoproliferative syndrome type 2.
Laguna Del Estal P et al.
Medicina Clinica, 2021
Interpretation of XIAP Variants of Uncertain Significance in Paediatric Patients with Refractory Crohn's Disease.
Chang I et al.
Journal of Crohn's & Colitis, 2021
Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report.
Yang J et al.
Journal of Clinical Immunology, 2020
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn J et al.
Immunologic Research, 2020
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
Serra EG et al.
Nature Communications, 2020
Different phenotypes of the same XIAP mutation in a family: A case of XIAP deficiency with juvenile idiopathic arthritis.
Shabani M et al.
Pediatric Blood & Cancer, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2018
Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.
Ono S et al.
Journal of Clinical Immunology, 2017
Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation.
Holle JR et al.
Pediatric Blood & Cancer, 2015
Two new families with X-linked inhibitor of apoptosis deficiency and a review of all 26 published cases.
Horn PC et al.
The Journal of Allergy and Clinical Immunology, 2011
[Lactic acidosis type B in a patient with AIDS].
Laguna del Estal P et al.
Medicina Clinica, 1994