ArticleFrontiers in immunology2022
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Red flags to suspect inborn errors of immunity in patients with autoimmune diseasesBiomedica : revista del Instituto Nacional de Salud · 2024Pooled it
- Chronic autoimmune cytopenias in pediatric age group: Clinical features and outcome.Hematology, transfusion and cell therapy · 2026Article
- Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis.Journal of human immunity · 2026Review
- Circulating T follicular helper cells as emerging biomarkers in pediatric Evans syndrome.Haematologica · 2026Article
- Fetal-Onset Autoimmune Hemolytic Anemia and Thrombocytopenia Followed by Giant Cell Hepatitis: A Case Report.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2026Article
- Genetic testing guides therapy in children with refractory cytopenias.Haematologica · 2026Article
- Autoimmunity and inborn errors of immunity: a complex coexistence.Frontiers in immunology · 2026Review
- Predictive factors for severity and poor treatment response in children with Evans syndrome: A retrospective cohort study.Frontiers in immunology · 2026Article
- Double Trouble: The First Reported Case of Evans Syndrome Following RSV Vaccination.Hematology reports · 2025Article
- Inborn Errors of Immunity in Pediatric Hematology and Oncology: Diagnostic Principles for Clinical Practice.Journal of clinical medicine · 2025Review
- Genetic variants in canonical Wnt signaling pathway associated with pediatric immune thrombocytopenia.Blood advances · 2024Article
- Article
- Case Report: Early-onset or recalcitrant cytopenias as presenting manifestations of activated PI3Kδ syndrome.Frontiers in pediatrics · 2024Article
- Pathogenesis of refractory ITP: Overview.British journal of haematology · 2023Review
- Real-life use of mTOR inhibitor-based therapy in adults with autoimmune cytopenia highlights strong efficacy in relapsing/refractory multi-lineage autoimmune cytopenia.Annals of hematology · 2023Article
- Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.Frontiers in immunology · 2023Review
- Autoimmune Neutropenias: Update on Clinical and Biological Features in Children and Adults.HemaSphere · 2023Review
- Mycophenolate mofetil for autoimmune cytopenias in children: high rates of response in inborn errors of immunity.Frontiers in pediatrics · 2023Article
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Evans syndrome (ES) is a rare disorder classically defined as the simultaneous or sequential presence of autoimmune haemolytic anaemia and immune thrombocytopenia, but it has also been described as the presence of at least two autoimmune cytopenias. Recent reports have shown that ES is often a manifestation of an underlying inborn error of immunity (IEI) that can benefit from specific treatments. Aims: The aim of this study is to investigate the clinical and immunological characteristics and the underlying genetic background of a single-centre cohort of patients with ES. Methods: Data were obtained from a retrospective chart review of patients with a diagnosis of ES followed in our centre. Genetic studies were performed with NGS analysis of 315 genes related to both haematological and immunological disorders, in particular IEI. Results: Between 1985 and 2020, 40 patients (23 men, 17 women) with a median age at onset of 6 years (range 0-16) were studied. ES was concomitant and sequential in 18 (45%) and 22 (55%) patients, respectively. Nine of the 40 (8%) patients had a positive family history of autoimmunity. Other abnormal immunological features and signs of lymphoproliferation were present in 24/40 (60%) and 27/40 (67%) of cases, respectively. Seventeen out of 40 (42%) children fit the ALPS diagnostic criteria. The remaining 21 (42%) and 2 (5%) were classified as having an ALPS-like and an idiopathic disease, respectively. Eighteen patients (45%) were found to have an underlying genetic defect on genes Conclusions: This study shows that nearly half of patients with ES have a genetic background being in most cases secondary to IEI, and therefore, a molecular evaluation should be offered to all patients.
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