학술논문
Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy.
Document Type
Article
Author
Source
Subject
*SPINAL muscular atrophy
*HEMOPHAGOCYTIC lymphohistiocytosis
*FEVER
*HEPATOMEGALY
*SPLEEN diseases
*GENE therapy
*GENES
*CHILDREN
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Language
ISSN
0269-4727
Abstract
What is known and objective: Onasemnogene abeparvovec (OA) is the first gene replacement therapy for the treatment of paediatric patients with bi‐allelic mutations in the SMN1 gene. Efficacy and safety of OA have been assessed in several studies with promising results, despite rare side effects have been described. Case summary: A 3‐year‐old child with spinal muscular atrophy was treated with OA and subsequently developed fever, widespread erythematous skin lesions and hepatosplenomegaly. Laboratory tests were suggestive for Hemophagocytic lymphohistiocytosis (HLH). What is new and conclusion: To our knowledge, this is the first case of HLH following gene replacement therapy with OA, described in literature. [ABSTRACT FROM AUTHOR]