Associated Papers
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
40090000 (PubMed )
Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1
Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.
Sharma S et al.
Journal of Clinical Immunology, 2025
Clinical Presentations, Diagnosis, and Genetic Features of Hemophagocytic Lymphohistiocytosis: A Single Institutional Experience With the Saudi Population.
Alradhi SI et al.
Cureus, 2024
Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.
Ishimura M et al.
International Journal of Hematology, 2024
Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.
Park JE et al.
Frontiers in Pediatrics, 2022
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
Bi SH et al.
World Journal of Clinical Cases, 2021
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy.
Sato H et al.
Journal of Pediatric Hematology/oncology, 2020
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.
Jin Z et al.
Orphanet Journal of Rare Diseases, 2018
Perforin gene mutation in familial haemophagocytic lymphohistiocytosis: the first reported case from Hong Kong.
Chiang GP et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2014
An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
Manso R et al.
Plos One, 2014
Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
Zhizhuo H et al.
Pediatric Blood & Cancer, 2012
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
Nagai K et al.
Plos One, 2010
Clinical aspects, immunologic assessment, and genetic analysis in Taiwanese children with hemophagocytic lymphohistiocytosis.
Lee WI et al.
The Pediatric Infectious Disease Journal, 2009
Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation.
Chen RL et al.
Journal of Clinical Pathology, 2007
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