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

Share

Clinical Report: Molecular and Genetic Strategies for Managing Familial HLH

Overview

This multi-center study in Mexico presents findings on the genetic underpinnings of familial hemophagocytic lymphohistiocytosis (HLH), identifying novel variants in several genes associated with the condition.

Background

Familial hemophagocytic lymphohistiocytosis (HLH) is a severe inflammatory condition characterized by an exaggerated immune response, often leading to life-threatening complications. Accurate diagnosis is crucial, as HLH can arise from genetic defects affecting immune cell function or be associated with various pathological conditions.

Data Highlights

Gene Variants Identified
PRF1
UNC13D
STX11
STXBP2
RAB27A
LYST
AP3B1
SH2D1A

Key Findings

  • A cohort of 31 patients with HLH was studied, leading to the identification of genetic variants.
  • Next-generation sequencing revealed variants in genes associated with familial HLH, including PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, AP3B1, and SH2D1A.
  • Fifteen of the identified variants were novel and not previously reported.
  • Functional assays and biochemical studies were employed to support molecular diagnostics.

Clinical Implications

The findings underscore the necessity of incorporating genetic testing in the diagnostic workup for patients suspected of having familial HLH. Enhanced molecular diagnostics can lead to more accurate diagnoses, particularly in regions with limited access to high-throughput genetic analyses.

Conclusion

This study illustrates the critical role of genetic testing in diagnosing familial HLH and highlights the discovery of novel gene variants that may contribute to the condition. Continued research in this area is essential for advancing our understanding and management of HLH.

Related Resources & Content

  1. Blood Cancer Journal, 2024 -- Molecular Characteristics of MYC-Rearranged Mature B-Cell Lymphomas in Pediatric and Young Adult Populations Indicate Burkitt Lymphoma Classification
  2. Chek2 Mutation Induces Growth of Hemangioblastomas in Von Hippel-Lindau Disease, 2023
  3. The Journal of Clinical Endocrinology & Metabolism, 2025 -- Diverse Genetic Variants and Common Clinical Features of Neuroendocrine Neoplasms in a Mexican Population
  4. Frontiers in Immunology, 2026 -- Case Report: Primary hemophagocytic lymphohistiocytosis with a homozygous PRF1 variant: a case suggesting early immunoporosis and an expanded phenotypic spectrum
  5. Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited - PMC
  6. Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study - PMC
  7. FDA approves emapalumab for hemophagocytic lymphohistiocytosis | FDA
  8. Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited - PMC
  9. Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study - PMC
  10. FDA approves emapalumab for hemophagocytic lymphohistiocytosis | FDA

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

Related Content

Editorial: Community series in primary immunodeficiencies worldwide, volume III

Venous malformation with localized intravascular coagulopathy in children treated with sclerotherapy and LWMH

NeurALLNet: An attention-based spiking neural network for energy-efficient multi-class classification of acute lymphoblastic leukemia