Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a…

Cohort studyFrontiers in immunology· 2026

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

Arturo Gutiérrez-Guerrero, Saul O Lugo-Reyes, Daniela Olivia López-Rivera … Mario Ernesto Cruz-Munoz

Medical Genetics & GenomicsCohort studyDiagnosisQ1IF 6.4

Genetic testing found 15 novel gene variants in familial hemophagocytic lymphohistiocytosis patients

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

Arturo Gutiérrez-Guerrero … Mario Ernesto Cruz-Munoz

Frontiers in immunology · 2026

Background

Hemophagocytic lymphohistiocytosis (hemophagocytic lymphohistiocytosis) is a life-threatening condition that results from a severe inflammation caused by an exaggerated immune response.

Methods

By different approaches, including functional assays and biochemical studies, we were able to obtain molecular diagnostics for patients, while next-generation sequencing identified the disease-associated gene variants.

n = 31 patients

15

Results

15

found 15 gene variants never before linked to this condition

n = 31 patients

More results

Here we presented a multi-center experience in approaching and diagnosing patients with familial hemophagocytic lymphohistiocytosis.

Our study included a cohort of 31 patients that fulfill the criteria of hemophagocytic lymphohistiocytosis.

More results

Genetic testing, led to identified variants in PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, AP3B1 and SH2D1A , confirming most of the initial molecular diagnoses.

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Conclusion

DISCUSSION: Our results highlight the importance of taking into consideration molecular studies to increase the proportion of patients that obtain a molecular diagnosis, especially in countries where high-throughput genetic analyses are difficult to access or time-consuming.

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

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

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