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  • Meeting abstract
  • Open Access

PW03-033 - SLC29A3 mutation: a new autoinflammatory condition

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Pediatric Rheumatology201311 (Suppl 1) :A259

  • Published:


  • Uveitis
  • Pericardial Effusion
  • Histiocytosis
  • SLC29A3 Gene
  • Sensorineural Deafness


Germline mutations in SLC29A3 result in a range of clinically related, recessive syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome, Faisalabad histiocytosis (FHC), and sinus histiocytosis with massive lymphadenopathy (SHML). Main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, uveitis and “Rosai-Dorfman-like” histiocytosis.

Case report

We report the case of an eleven-month-old boy with early-onset recurrent episodes of unprovoked fever lasting 7 to 10 days associated with pericardial effusion, abdominal pain, diarrhea, and inflammation. Physical examination revealed hyperpigmentation with hypertrichosis, dysmorphic features and a spleen and liver enlargement. Failure to thrive, sensorineural deafness, psychomotor development delay, and a “Rosai-Dorfman like” cheek lesion further developed. Febrile attacks were not responsive to interleukin-1 and Tumor-Necrosis-Factor blocking agents. All known causes of genetic autoinflammatory syndromes were excluded by sequencing (MEFV, NALP3, mevalonate kinase, NALP12, TNFRSF1). Sequencing of SLC29A3 gene revealed homozygous missense mutation c.1088G>A (p.Arg363Gln).


This case is the first description of a patient with an auto-inflammatory disorder due to a mutation in SLC29A3 gene. Genetic defect of SLC29A3 should be considered in patients with recurrent febrile attacks associated with any symptoms reminiscent of SLC29A3 broad spectrum of manifestations, especially hyperpigmentation with hypertrichosis.

Disclosure of interest

None declared

Authors’ Affiliations

Unité d'Immunologie Hématologie et Rhumatologie Pédiatrique, Necker-Enfants Malades Hospital, Paris, France
Service de Pédiatrie Générale, Robert Debré Hospital, France
Department of pediatric radiology, Necker-Enfants Malades Hospital, France
Department of genetics, Trouseau Hospital, France
Institut IMAGINE, Paris Descartes University, Sorbonne Paris Cité, France
Department of Microbiology, Necker Enfants Malades Hospital, France
U768, INSERM, Paris, France


© Melki et al; licensee BioMed Central Ltd. 2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.