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Analysis of genes involved in immune response in children with HLH -- case series.
Open accessPreprint — published as 10.1186/s12969-025-01169-1 · Paper page
Abstract
Background Hemophagocytic lymphohistiocytosis (HLH) is an excessive immune activation syndrome. The genetic studies on every patient diagnosed with HLH recently became a standard of care. The likelihood of identifying a gene mutation is highest in the youngest patients. Results [Four HLH patients had changes in the following five genes](mailto:peter.fritsch@medunigraz.at): [NLRP1 (c.923G>A)](mailto:peter.fritsch@medunigraz.at), [DOCK 8 (Dedicator of Cytokinesis 8) (c.3067A>G)](mailto:peter.fritsch@medunigraz.at), [AIRE gene (c.10G>A) and one in the RNASEH2B (c.649T>C)](mailto:peter.fritsch@medunigraz.at), [PSTPIP1 (c.1213C>T)](mailto:peter.fritsch@medunigraz.at). No mutations in genes previously associated with HLH syndrome were found. Conclusions [The described cases show that genetic analysis is helpful for the diagnosis of HLH in pediatric patients. The functional analysis of a putative mutation is essential for understanding the pathological mechanism; while not every change in DNA might be responsible for the disease. Each patient might have different mutations; however, they all develop the same clinical outcome. Disruption at different levels can result in a similar picture.](mailto:peter.fritsch@medunigraz.at)
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Highly accurate protein structure prediction with AlphaFold
Jumper, J., Evans, R., Pritzel, A., Green, T., Figurnov, M., Ronneberger, O., Tunyasuvunakool, K., Bates, R., Žídek, A., Potapenko, A., et al. (2021) · Nature · doi:10.1038/s41586-021-03819-2 · Cited by 43,764
Metadata
- Authors
- Gowin, E., Szaflarski, W., & Konatkowska, B.
- Affiliations
- Poznan University of Medical Sciences (PL)
- Szpital Kliniczny im Karola Jonschera Uniwersytetu Medycznego im Karola Marcinkowskiego w Poznaniu Klinika Onkologii Hematologii i Transplantologii Pe
- Corresponding author
- Gowin, Ewelina
- Venue
- Pediatric Rheumatology
- Publisher
- Wiley
- Published
- 2024-07-17
- Volume
- 23
- Issue
- 1
- Pages
- 119-119
- ISSN
- 1546-0096 (ISSN-L)
- PMC
- PMC12639710
- OpenAlex
- W4416504390
- Cited by
- 0
- References
- 1
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- Pediatric Rheumatology (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Health Sciences › Medicine › Hematology › Autoimmune and Inflammatory Disorders Research
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Inflammasome and immune disorders
- Keywords
- hemophagocytic lymphohistiocytosis, pediatric HLH, genetic mutations, NLRP1, DOCK8, AIRE, RNASEH2B, PSTPIP1, immune response genes, genetic diagnosis, functional analysis of mutations
- MeSH terms
- NLR Proteins, AIRE Protein, Child, Child, Preschool, Cytoskeletal Proteins, Female, Humans, Infant, Male, Mutation, Transcription Factors, Guanine Nucleotide Exchange Factors, Adaptor Proteins, Signal Transducing, Lymphohistiocytosis, Hemophagocytic
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- CoChat. (2026). Citation check: Analysis of genes involved in immune response in children with HLH -- case series. https://app.cochat.ai/papers/10.22541/au.172118602.26539703/v1
- The paper
- Gowin, E., Szaflarski, W., & Konatkowska, B. (2024). Analysis of genes involved in immune response in children with HLH -- case series. Pediatric Rheumatology. https://doi.org/10.22541/au.172118602.26539703/v1
