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

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

  • 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

  • 0 min

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Objective:

To present a multi-center experience in diagnosing familial hemophagocytic lymphohistiocytosis (HLH) and to highlight the role of molecular diagnostics in this context.

Approach:
  • Functional Assays and Biochemical Studies: Utilized various functional assays and biochemical studies to obtain molecular diagnostics for patients.
  • Next-Generation Sequencing: Employed next-generation sequencing to identify disease-associated gene variants in the studied cohort.
Key Findings:
  • A cohort of 31 patients fulfilling HLH criteria was studied.
  • Genetic testing identified variants in PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, AP3B1, and SH2D1A.
  • 15 of the identified variants were novel and not previously reported.
Interpretation:

The study highlights the importance of molecular studies in enhancing the diagnosis of familial HLH.

Limitations:
  • Access to high-throughput genetic analyses may be limited or time-consuming in certain regions, impacting the diagnosis process.
Conclusion:

Molecular diagnostics are essential for identifying familial HLH.

Original Source(s)

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

  • 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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