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Published on: November 9, 2017
Paediatric autoimmune diseases with ELANE mutations associated with neutropenia
Dan Zhang1, Gaixiu Su2, Sheng Hao3
1Department of Rheumatology and Immunology, Capital Institute of Pediatrics, 2 Yabao Road, Chaoyang District, Beijing, China.
Insights
Children with ELANE mutations can develop autoimmune diseases and recurrent infections. Treatments like DMARDs and stem cell transplantation show promise for managing these conditions.
Area of Science:
- Pediatric autoimmune diseases
- Genetics of immune disorders
- Neutrophil biology
Background:
- ELANE gene mutations are linked to congenital neutropenia.
- Autoimmune manifestations in ELANE mutation patients are not well-characterized.
- Understanding these associations is crucial for diagnosis and treatment.
Purpose of the Study:
- To investigate the clinical features of autoimmune diseases in pediatric patients with ELANE mutations.
- To analyze treatment outcomes for these complex cases.
Main Methods:
- Retrospective analysis of three pediatric cases with ELANE mutations and autoimmune diseases.
- Review of clinical presentations, genetic testing, and treatment regimens.
Main Results:
- All three patients presented with recurrent infections.
- Manifestations included cyclic neutropenia, systemic lupus erythematosus, autoimmune hemolytic anemia, and ANCA-associated vasculitis.
- Successful treatments involved disease-modifying antirheumatic drugs, allogeneic hematopoietic stem cell transplantation, and granulocyte colony-stimulating factor.
Conclusions:
- ELANE mutations can predispose children to autoimmune diseases and recurrent infections.
- Disease-modifying antirheumatic drugs are effective for associated autoimmune conditions.
- Allogeneic hematopoietic stem cell transplantation offers a potential cure for autoimmune diseases in ELANE-associated neutropenia.
Objective:
To explore the clinical characteristics of autoimmune diseases in children with ELANE mutations.
Methods:
Three cases of children with ELANE mutations manifesting as autoimmune diseases, who were under treatment from April 2020 to May 2021, were retrospectively analysed.
Results:
Among the three children, two were boys aged 15 years and 22 months (cases 1 and 3) respectively, and the other one was a 22-month-old girl (case 2). All the cases had recurrent infections. Case 1 presented with cyclic neutropenia and systemic lupus erythematosus (SLE). Case 2 presented with severe neutropenia and autoimmune haemolytic anaemia (AHIA). Case 3 presented with severe neutropenia and anti-neutrophil cytoplasm antibodies (ANCA)-associated small vasculitis. Genetic tests showed that they all had heterozygous mutations in the ELANE gene. Case 1 was treated with methylprednisolone and hydroxychloroquine sulphate for 2 years, making neutrophil level return to normal. Case 2 received allogeneic hematopoietic stem cell transplantation and has stopped taking antibiotics, steroids and all the immunosuppressors. Case 3 received subcutaneous injections of granulocyte colony-stimulating factor, oral prednisone and cyclophosphamide. The boy in case 3 has been followed up for one year, and his absolute neutrophil count has increased to 1.56 × 109/L.
Conclusion:
Patients with ELANE mutations, combined with autoimmune diseases, may have recurrent infections. Disease-modifying antirheumatic drugs (DMARDs) are effective for autoimmune diseases. Autoimmune diseases with ELANE mutations associated with neutropenia can be cured through allogeneic hematopoietic stem cell transplantation.
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