ArticleJournal of clinical immunology2015
A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.
Article in Journal of clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.Frontiers in immunology · 2024Pooled it
- Genetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report.Journal of medical case reports · 2025Article
- X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.Journal of clinical immunology · 2025Article
- Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.Blood · 2024Article
- Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.Journal of clinical immunology · 2022Article
- Evolution of Our Understanding of XIAP Deficiency.Frontiers in pediatrics · 2021Review
- GWAS of Post-Orthodontic Aggressive External Apical Root Resorption Identified Multiple Putative Loci at X-Y Chromosomes.Journal of personalized medicine · 2020Article
- Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.BMC pediatrics · 2020Article
- Pediatric hemophagocytic lymphohistiocytosis.Blood · 2020Review
- Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.Frontiers in immunology · 2019Review
- How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
- Epstein-Barr Virus and Hemophagocytic Lymphohistiocytosis.Frontiers in immunology · 2017Review
- Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.Journal of clinical immunology · 2017Article
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Authors and funding
17 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked lymphoproliferative disease (XLP) is a rare inherited immunodeficiency that often leads to hemophagocytic lymphohistiocytosis (HLH). XLP can be classified as XLP1 or XLP2, caused by mutations in SH2D1A and XIAP, respectively. In women, X-chromosome inactivation (XCI) of most X-linked genes occurs on one of the X chromosomes in each cell. The choice of which X chromosome remains activated is generally random, although genetic differences and selective advantage may cause one of the X chromosomes to be preferentially inactivated. Here we describe three patients with pancytopenia, including one female patient, in a Japanese family with a novel XIAP mutation. All three patients exhibited deficient XIAP protein expression, impaired NOD2/XIAP signaling, and augmented activation-induced cell death. In the female patient, the paternally derived X chromosome was non-randomly and exclusively inactivated in her peripheral blood and hair root cells. In contrast to asymptomatic females, this patient exhibied non-random XCI skewed towards the wild-type XIAP allele. This is the first report of a female patient with incomplete HLH resulting from a heterozygous XIAP mutation in association with non-random XCI.
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