ArticleClinical and experimental medicine2023
STAT1 overexpression triggers aplastic anemia: a pilot study unravelling novel pathogenetic insights in bone marrow failure.
Article in Clinical and experimental medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 10 citations in OpenAlex.
- Granulomatous inflammation in histopathological samples: examining the aetiological spectrum, diagnostic challenges, and future perspectives.Annals of medicine · 2026Article
- Navigating primary and secondary immunodeficiency intersections: how to find IEI hidden within SID.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Review
- Decoding immune-driven erythroid failure in pure red cell aplasia.British journal of haematology · 2026Article
- Role of STAT1 in modulating the host immune response toMicrobiology spectrum · 2026Article
- Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity.Journal of clinical immunology · 2025Article
- Targeting interleukin-2-inducible T cell kinase ameliorates immune-mediated aplastic anemia.Cancer immunology, immunotherapy : CII · 2025Article
- Origins of T-cell-mediated autoimmunity in acquired aplastic anaemia.British journal of haematology · 2025Review
- Genomic profiling at a single center cracks the code in inborn errors of immunity.Internal and emergency medicine · 2025Article
- Human inborn errors of immunity underlyingFrontiers in immunology · 2025Article
- Germline variants in acquired aplastic anemia: current knowledge and future perspectives.Haematologica · 2024Review
- Modified Delphi panel consensus recommendations for management of severe aplastic anemia.Blood advances · 2024Article
- Retrospective identification of the first cord blood-transplanted severe aplastic anemia in aFrontiers in immunology · 2024Review
- Determinants of COVID-19 Disease Severity-Lessons from Primary and Secondary Immune Disorders including Cancer.International journal of molecular sciences · 2023Review
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We identified STAT1 gain of function (GOF) in a 32-year-old female with pallor, weakness, cough, and dyspnea admitted to our Division of Medicine. She had severe oral ulcers (OU), type 1 diabetes (T1DM), and pancytopenia. Bone marrow (BM) biopsy showed the absence of erythroid precursors. Peripheral blood parameters such as neutrophils < 500/mL, reticulocytes < 2%, and BM hypo-cellularity allowed to diagnose severe aplastic anemia. A heterozygous variant (p.520T>C, p.Cys174Arg) of STAT1 was uncovered. Thus, p.Cys174Arg mutation was investigated as potentially responsible for the patient's inborn immunity error and aplastic anemia. Although STAT1 GOF is rare, aplastic anemia is a more common condition; therefore, we explored STAT1 functional role in the pathobiology of BM failure. Interestingly, in a cohort of six patients with idiopathic aplastic anemia, enhanced phospho-STAT1 levels were observed on BM immunostaining. Next, the most remarkable features associated with STAT1 signaling dysregulation were examined: in both pure red cell aplasia and aplastic anemia, CD8
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