Familial SLC29A3-related histiocytosis with presumed choroidal infiltration: expanding the spectrum of histiocytosis-lymphadenopathy plus syndrome

H syndrome (HS) is a rare autosomal recessive histiocytosis caused by biallelic mutations of the SLC29A3 gene. Ophthalmological involvement is not typical in HS, but is a known manifestation of non-Langerhans histiocytoses. We report two adult siblings with genetically confirmed HS who developed bil...

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書誌詳細

主要な著者:	Xavier Boulu, Gilles Morin, Christophe Attencourt, Jean Schmidt, Thi Ha Chau Tran
フォーマット:	Artigo
言語:	Inglês
出版事項:	Elsevier 2026-06-01
シリーズ:	American Journal of Ophthalmology Case Reports
主題:	H syndrome Uveitis Choroidal infiltration Non-Langerhans histiocytosis SLC29A3 ENT3
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S2451993626000587
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