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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

PW03-033 - SLC29A3 mutation: a new autoinflammatory condition

Authors: I Melki, K Lambot, L Jonard, V Couloigner, P Quartier, B Neven, B Bader-Meunier

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

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. …
Metadata
Title
PW03-033 - SLC29A3 mutation: a new autoinflammatory condition
Authors
I Melki
K Lambot
L Jonard
V Couloigner
P Quartier
B Neven
B Bader-Meunier
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A259

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