Abstract
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.
Highlights
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)
Sequencing of SLC29A3 gene revealed homozygous missense mutation c.1088G>A (p.Arg363Gln). This case is the first description of a patient with an autoinflammatory 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
Summary
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). PW03-033 - SLC29A3 mutation: a new autoinflammatory condition I Melki1,2*, K Lambot3, L Jonard4, V Couloigner5,6, P Quartier1,5, B Neven1,5,7, B Bader-Meunier1,5,7 From 7th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID) Lausanne, Switerland.
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