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
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
The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location.
Liu I et al.
Nature Genetics, 2022
36471067 (PubMed )
Supplement: 41588_2022_1236_MOESM3_ESM.xlsx › table_S7
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
Clinical and genetic features of Epstein-Barr virus-triggered late-onset primary hemophagocytic lymphohistiocytosis: Ten pedigrees study.
Gao L et al.
Clinical and Translational Medicine, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
To Transplant or Not to Transplant? Late-Onset Primary HLH in a Patient: A Case Report and Review of Literature.
Ashok V et al.
Journal of Pediatric Hematology/oncology, 2019
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
Gao L et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2016
Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.
Wang Y et al.
Plos One, 2014
Adult onset of primary hemophagocytic syndrome in subjects carrying PRF1 mutations.
Wang Y et al.
Annals of Hematology, 2012
[A case report of adult onset of primary hemophagocytic syndrome with literature review].
Wang YN et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012
Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
Nagafuji K et al.
Haematologica, 2007
[Familial hemophagocytic lymphohistiocytosis. Differential diagnosis with secondary hemophagocytic syndromes].
Boissy C et al.
Archives D'anatomie Et De Cytologie Pathologiques, 1997
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