ArticleClinical & translational immunology2026
Clinical, biological and cytometric characteristics of two patients with a homozygous A91V
Article in Clinical & translational immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objectives: Inborn errors of immunity are rare genetic disorders that cause dysfunction of the immune system. Among these, familial haemophagocytic lymphohistiocytosis (FHL) involves defects in the perforin/granzyme pathway, which is essential for regulating immune responses. These conditions predispose individuals to haemophagocytic lymphohistiocytosis, a life-threatening hyperinflammatory syndrome. FHL has traditionally been described in paediatric patients with a fatal outcome in the absence of early haematopoietic stem cell transplantation. However, some patients harbouring missense mutations may present with atypical or late-onset symptoms, for which management remains unstandardised. Among these reported variants, the pathogenicity of the A91V Method: We report clinical, biological and cytometric characteristics of two patients with a homozygous Discussion: We discuss the latest 2024 classifications to better characterise this group of disorders and their underlying genetic basis, with particular emphasis on atypical presentations and the A91V mutation, which may pose diagnostic and therapeutic challenges. Conclusion: A91V
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