Clinical, biological and cytometric characteristics of two patients with a homozygous A91V PRF1 mutation

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 condition...

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Detalhes bibliográficos

Principais autores:	Nicolas Perrard, Claire Poggi, Sébastien Sanges, Bruno Lemarchant, Wadih Abou Chahlah, Louis Terriou, Stéphanie Delangue, Jacques Trauet, Myriam Labalette, Eric Hachulla, Despina Moshous, Guillaume Lefevre, David Launay
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2026-03-01
coleção:	Clinical & Translational Immunology
Assuntos:	familial haemophagocytic lymphohistiocytosis haemophagocytic lymphohistiocytosis perforin/granzyme system primary immunodeficiency
Acesso em linha:	https://doi.org/10.1002/cti2.70081
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