Associated Papers
Inborn errors of immunity-associated gene variants in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
Sakamoto K et al.
International Journal of Hematology, 2025
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
Stadermann A et al.
International Journal of Molecular Sciences, 2024
38474010 (PubMed )
Supplement: ijms-25-02762-s001.zip › ijms-2814704-supplementary.xlsx › Sheet1
[Clinical characteristics of primary hemophagocytic lymphohistiocytosis associated with perforin gene deficiency: a single-center retrospective study].
Yu MZ et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2023
NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis.
Bi X et al.
Journal of Hematology & Oncology, 2022
35902954 (PubMed )
Supplement: 13045_2022_1318_MOESM2_ESM.xlsx › Table_S6
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.
Viñas-Giménez L et al.
Frontiers in Immunology, 2020
32076423 (PubMed )
Supplement: Table_1.XLSX › Supplementary_Table_1
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.
An O et al.
Protein Science : a Publication of the Protein Society, 2013
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