Ocular inflammation as the first presenting feature of PRF1-associated familial hemophagocytic lymphohistiocytosis, case report and review of literature

Ocular inflammation as the first presenting feature of PRF1-associated familial hemophagocytic lymphohistiocytosis, case report and review of literature

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of hyperinflammation. It is categorized into a primary or secondary form. Familial HLH is considered a subset of primary HLH that results from a biallelic mutation in one of the four genes that regulate granule-dependent cyto...

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Bibliographic Details
Main Authors: Asma K. Alzuabi, Faris M. Al Ghulaiga, Ahmed M. Abu El-Asrar
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Ophthalmology
Subjects:
Familial hemophagocytic lymphohistiocytosis
PRF1
Retinal vasculitis
Intermediate uveitis
Esotropia
Online Access:https://doi.org/10.1186/s12886-025-04226-1
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https://doi.org/10.1186/s12886-025-04226-1

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