PW03-033 - SLC29A3 mutation: a new autoinflammatory condition
- 1.5k Downloads
KeywordsUveitis 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.
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
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 (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.