Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico

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Hemophagocytic lymphohistiocytosis (HLH) is a severe inflammatory condition resulting from an exaggerated immune response.
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Genetic causes of HLH can complicate diagnosis, as normal NK or CTL function does not exclude familial HLH.
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A multi-center study identified genetic variants in several genes associated with familial HLH, including PRF1 and UNC13D.
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Fifteen novel variants were discovered in patients, expanding the understanding of genetic contributions to HLH.
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Molecular studies are crucial for increasing the rate of molecular diagnoses in HLH, especially in resource-limited settings.

Frontiers In Immunology

by Arturo Gutiérrez-Guerrero, Saul O. Lugo-Reyes, Daniela Olivia López-Rivera, Jacqueline Sánchez-Herrera, Lucero Valenzuela-Vázquez, Mercy Estevez-Mieres, Enriqueta Nuñez-Nuñez, Beatriz Bayardo-Gutiérrez, Juan Carlos Lona-Reyes, Rosa Margarita Cruz-Osorio, Veronica Soto-Chavez, Martín Bedolla-Barajas, José Alonso Gutierrez-Hernández, Tania Barragan-Arevalo, Maria Fernanda Hidalgo-Martinez, Liliana Gomez-Cardenas, Diego Sierra-Muñoz, Samantha Perea Alvarez, Edna Venegas-Montoya, Aide Tamara Staines-Boone, Maria del Carmen Zarate-Hernández, Vania Maria Miranda-Saavedra, Gabriel Emmanuel Arce-Estrada, Selma Scheffler-Mendoza, Juan Carlos Bustamante-Ogando, Beatriz Adriana Llamas-Guillén, Miguel Ruiz-Fernández, Perla Veronica Reynoso-Arenas, Martín Eduardo Flores-Munguía, Carlos Torres-Lozano, Miguel Angel Bonal-Pérez, Estefany Graciela Mamani-Velásquez, Rubén Martínez-Barricarte, Rosa María Nideshda Ramírez-Uribe, Nina Pastor, Ivan Martinez-Duncker, Paul Gaytan, Jorge A. Yañez, Marco Antonio Yamazaki-Nakashimada, Christelle Lenoir, Sylvain Latour, Sara Elva Espinosa, Mario Ernesto Cruz-Munoz
July 3, 2026

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