ArticleJournal of clinical immunology2012
Clinical and genetic characteristics of XIAP deficiency in Japan.
Article in Journal of clinical immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.Frontiers in immunology · 2021Pooled it
- Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening.Molecular medicine reports · 2020Trial
- Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026Review
- Rapid flow cytometric diagnosis of XIAP deficiency.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Article
- Comprehensive flow cytometry-based diagnosis of XIAP deficiency.Clinical and experimental immunology · 2025Article
- Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease.Journal of clinical immunology · 2023Article
- Apoptotic cell death in disease-Current understanding of the NCCD 2023.Cell death and differentiation · 2023Review
- Maternal Gonosomal Mosaicism Causes XIAP Deficiency.Journal of clinical immunology · 2023Article
- Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1.Cell death & disease · 2022Article
- Evolution of Our Understanding of XIAP Deficiency.Frontiers in pediatrics · 2021Review
- Article
- Regulation of Cell Death and Immunity by XIAP.Cold Spring Harbor perspectives in biology · 2020Review
- Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report.Journal of clinical immunology · 2020Article
- Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease.Cell death & disease · 2020Article
- Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.Inflammatory bowel diseases · 2020Review
- Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.BMC pediatrics · 2020Article
- X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.European journal of pediatrics · 2020Article
- Inhibitor of apoptosis proteins in human health and disease.Genes and immunity · 2019Review
- Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.Journal of pediatric gastroenterology and nutrition · 2019Article
- Systemic Epstein-Barr Virus-Positive T/NK Lymphoproliferative Diseases WithFrontiers in pediatrics · 2019Article
Corrections and comments
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Authors and funding
17 authors at 13 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deficiency of X-linked inhibitor of apoptosis (XIAP) caused by XIAP/BIRC4 gene mutations is an inherited immune defect recognized as X-linked lymphoproliferative syndrome type 2. This disease is mainly observed in patients with hemophagocytic lymphohistiocytosis (HLH) often associated with Epstein-Barr virus infection. We described nine Japanese patients from six unrelated families with XIAP deficiency and studied XIAP protein expression, XIAP gene analysis, invariant natural killer T (iNKT) cell counts, and the cytotoxic activity of CD8(+) alloantigen-specific cytotoxic T lymphocytes. Of the nine patients, eight patients presented with symptoms in infancy or early childhood. Five patients presented with recurrent HLH, one of whom had severe HLH and died after cord blood transplantation. One patient presented with colitis, as did another patient's maternal uncle, who died of colitis at 4 years of age prior to diagnosis with XIAP deficiency. Interestingly, a 17-year-old patient was asymptomatic, while his younger brother suffered from recurrent HLH and EBV infection. Seven out of eight patients showed decreased XIAP protein expression. iNKT cells from patients with XIAP deficiency were significantly decreased as compared with age-matched healthy controls. These results in our Japanese cohort are compatible with previous studies, confirming the clinical characteristics of XIAP deficiency.
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Registered trials
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