A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31102697.
- Also identified by DOI 10.1016/j.jaci.2019.05.008 and PMC identifier 6688952.
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Abstract
A novel <i>STAT2</i> variant causing complete STAT2 protein abrogation presents with hemophagocytic lymphohistiocytosis (HLH). This is the first report of HLH in association with STAT2 deficiency.
Medical subject headings
- Genetic Diseases, Inborn
- Homozygote
- Lymphohistiocytosis, Hemophagocytic
- STAT2 Transcription Factor