ArticleMedicine2018
Type 2 familial hemophagocytic lymphohistiocytosis in half brothers: A case report.
Article in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- 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 · 2025Review
- Hyperinflammatory Syndrome, Natural Killer Cell Function, and Genetic Polymorphisms in the Pathogenesis of Severe Dengue.The Journal of infectious diseases · 2022Observational
- Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.World journal of clinical cases · 2021Article
- Article
- RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.Pharmacogenomics and personalized medicine · 2021Article
- Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due toFrontiers in genetics · 2020Article
- Autoinflammatory characteristics and short-term effects of delivering high-dose steroids to the surface of the intact endolymphatic sac and incus in refractory Ménière's disease.Journal of otology · 2019Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleWe describe a novel case of half-brothers suffering from type 2 familial hemophagocytic lymphohistiocytosis (FHL). PATIENT CONCERNS: A 15-year-old Chinese child was admitted to the hematology department. PRF1 gene coding revealed that he was c.282C>A/p.N94K heterozygous and had a c.1349C>T/p.T450M heterozygous mutation. One year later, his younger halfbrother suffered from the same disease. PRF1 gene coding revealed that the younger brother was c.282C>A/p.T450M heterozygous with a c.1349C>T/p.T450M heterozygous mutation. His mother and grandfather were confirmed to have c.1349C>T/p.T450M heterozygous mutations in exon 3. DIAGNOSES: Half-brothers were diagnosed for type 2 familial hemophagocytic lymphohistiocytosis
interventions: To our knowledge, this is a possible FHL and the children's mother may be a pathogenic gene carrier. OUTCOMES: After being treated with the HLH-04 schedule, the symptoms of half-brothers were all improved. LESSONS SUBSECTIONS: Therefore, once FHL is diagnosed, HSCT needs to be done early, even if no perfect match is found.
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Registered trials
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