ArticleFrontiers in immunology2017
Two Brothers with Atypical
Article in Frontiers in immunology, 2017. 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, 12 citations in OpenAlex.
- Treating hematologic immune dysregulation in inborn errors of immunity: a real-life multicenter study.Frontiers in immunology · 2026Article
- Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia.Frontiers in immunology · 2025Article
- Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1.Frontiers in immunology · 2024Article
- Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.Journal of neurology · 2022Observational
- Neuroinflammation Associated With Inborn Errors of Immunity.Frontiers in immunology · 2021Review
- Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused byHuman gene therapy · 2020Article
- FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.Frontiers in immunology · 2020Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition. Variants in different genes have been associated with the familial forms of the syndrome (FHL), usually presenting within the first 2 years of life. Due to increasing awareness of the signs and symptoms of HLH and a better understanding of the genetic basis of the disease, FHL has been increasingly diagnosed in patients presenting beyond infancy. Here, we report on two brothers with atypical, late-onset HLH in which whole exome sequencing revealed a homozygous pathogenic
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