Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico - Scorecard - 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 Scorecard: Molecular and Genetic Strategies for Managing Familial Hemophagocytic Lymphohistiocytosis: Insights from a Multi-Center Study in Mexico

At a Glance

CategoryDetail
ConditionHemophagocytic lymphohistiocytosis (HLH)
Key MechanismsSevere inflammation due to exaggerated immune response, often linked to genetic defects affecting cytotoxic immune cells.
Target PopulationPatients with familial HLH and other forms of HLH.
Care SettingMulti-center clinical study

Key Highlights

  • HLH is characterized by prolonged fever, hepatosplenomegaly, and pancytopenia.
  • Genetic testing identified novel variants in several genes associated with HLH.
  • Sensitive functional assays are crucial for diagnosing familial HLH.
  • HLH can be triggered by infections, particularly EBV and CMV.
  • The study emphasizes the need for molecular diagnostics in HLH management.

Guideline-Based Recommendations

Diagnosis

  • Five of eight clinical and laboratory criteria are sufficient to diagnose HLH.

Management

  • Prompt diagnosis is critical for determining treatment and outcome.

Monitoring & Follow-up

  • Regular assessment of immune function and genetic testing.

Risks

  • HLH can be life-threatening and is associated with various genetic and environmental factors.

Patient & Prescribing Data

Patients diagnosed with familial HLH and other HLH forms.

Genetic variants in key genes can inform treatment strategies.

Clinical Best Practices

  • Utilize functional assays and molecular diagnostics for accurate HLH diagnosis.
  • Consider genetic testing for patients with suspected familial HLH.

Related Resources & Content

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

Hemodynamic Instability in Intubation May Be Predictable

Narrative review describes how physiologic stressors accumulate from induction through postintubation care and may contribute to cardiovascular deterioration during airway management.

Relationship between persistent atrial fibrillation in high-altitude regions and left atrial diameter, red cell distribution width, and NT-ProBNP: a retrospective case-control study

Fertility and endocrinopathies among adults with β-thalassemia major treated at Dubai thalassemia center