Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.

doi:10.1007/s10875-025-01895-x

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Article

Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.

Journal of clinical immunology - 19 Jun 2025

Sharma Saniya, Basu Suprit, Goyal Taru, Sharma Madhubala, Barman Prabal, Kaur Gurjit, Shandilya Jitendra K, Vignesh Pandiarajan, Pilania Rakesh Kumar, Jindal Ankur Kumar, Dhaliwal Manpreet, Bhatia Prateek, Sreedharanunni Sreejesh, Rastogi Pulkit, Mallik Nabhajit, Sharma Prashant, Kaur Anupriya, Suri Deepti, Rawat Amit, Singh Surjit

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) is the commonest cause of familial hemophagocytic lymphohistiocytosis (FHLH). In this retrospective study, we analyzed 8 patients with a genetic diagnosis of FHL2 and then examined their clinicopathological and perforin flow cytometry results (< 10% expression). The atypical clinical features in our cohort included tuberculosis, lymphoreticular malignancy,...

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Identifiers

PMID: 40536602
DOI: 10.1007/s10875-025-01895-x
PMCID: PMC12178966

Genes

FHL2
PRF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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