ArticlePLoS genetics2010
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
Article in PLoS genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 2 of them syntheses that pooled it.
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87 citing papers in PubMed, 2 syntheses or guidelines pooled it, 222 citations in OpenAlex.
- Diagnosis and treatment of Rosai-Dorfman disease of the spine: a systematic literature review.Systematic reviews · 2021Pooled it
- Bone Involvement in Rosai-Dorfman Disease (RDD): a Case Report and Systematic Literature Review.Current rheumatology reports · 2017Pooled it
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- H Syndrome Associated With Pure Red Cell Aplasia, Rosai-Dorfman Disease, and Sensorineural Hearing Loss: Phenotypic Variability in Three Children With the Same SLC29A3 Mutation.Clinical case reports · 2026Article
- Rosai-Dorfman disease mimicking testicular malignancy in a patient with marginal zone lymphoma of the lung.BMJ case reports · 2026Article
- Cutaneous Rosai-Dorfman disease involving the left ear responsive to systemic glucocorticoid: a case report.Frontiers in medicine · 2026Article
- New cases expand the genotype, phenotype and therapeutic landscape of H syndrome.British journal of haematology · 2026Article
- ENT3: A lysosomal urate transporter regulating urate disposition and macrophage inflammation.iScience · 2025Article
- The lysosomal carrier SLC29A3 supports antibacterial signaling, and promotes autophagy by activating TRPML1 in murine dendritic cells.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Allogeneic hematopoietic cell transplantation rescues congenital red cell aplasia in H syndrome due toHaematologica · 2025Article
- Rare Rosai-Dorfman disease presenting with basal ganglia and bilateral cerebral peduncles-diagnosis and challenges.Quantitative imaging in medicine and surgery · 2025Article
- The lysosomal catabolism of nucleic acids-critical regulators of the innate immune system.Nucleic acids research · 2025Review
- H syndrome presenting with bilateral cheek enlargement and anBMJ case reports · 2025Article
- Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.Children (Basel, Switzerland) · 2025Article
- Efficacy of Radiotherapy in Patients with Relapsing Primary Rosai-Dorfman Disease of the Nasal Cavity.Medicina (Kaunas, Lithuania) · 2025Article
- Molecular Mutations in Histiocytosis: A Comprehensive Survey of Genetic Alterations.Molecular biotechnology · 2025Review
- Updates on Langerhans cell histiocytosis and other histiocytosis in children: invited review-challenges and novelties in paediatric tumours.Virchows Archiv : an international journal of pathology · 2025Review
- Article
- Cavoatrial Bypass for Cardiac Complications From Rosai-Dorfman Disease.Annals of thoracic surgery short reports · 2024Article
- A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.BMC medical genomics · 2024Review
27 more citing papers are in PubMed but not listed here.
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22 authors at 11 institutions in 4 countries.
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Abstract
The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similarities to Rosai-Dorfman disease (RDD) (also known as sinus histiocytosis with massive lymphadenopathy (SHML)). To elucidate the molecular basis of FHC, we performed autozygosity mapping studies in a large consanguineous family and identified a novel locus at chromosome 10q22.1. Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the FHC kindred and in two families reported to have familial RDD. Analysis of SLC29A3 expression during mouse embryogenesis revealed widespread expression by e14.5 with prominent expression in the central nervous system, eye, inner ear, and epithelial tissues including the gastrointestinal tract. SLC29A3 encodes an intracellular equilibrative nucleoside transporter (hENT3) with affinity for adenosine. Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. Our findings suggest that a variety of clinical diagnoses (H and PHID syndromes, FHC, and familial RDD) can be included in a new diagnostic category of SLC29A3 spectrum disorder.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.