Paediatric autoimmune diseases with ELANE mutations associated with neutropenia
Authors' 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.
Study context
- Population
- Children with ELANE mutations manifesting as autoimmune diseases, treated April 2020 to May 2021
- Participants
- 3 children
- Outcome
- Clinical characteristics
Main finding
As reported in the abstract
- All cases had recurrent infections
- Case 1 (boy, 15 years): cyclic neutropenia and systemic lupus erythematosus (SLE)
- Case 2 (girl, 22 months): severe neutropenia and autoimmune haemolytic anaemia
- Case 3 (boy, 22 months): severe neutropenia and anti-neutrophil cytoplasm antibodies (ANCA)-associated small vasculitis
- All had heterozygous ELANE gene mutations
Observational data: associations, not effects.
Further findings
Treatment and outcome
- Case 3: G-CSF, oral prednisone and CYC; absolute neutrophil count increased at one-year follow-up
- 1.56 × 109/L
- Case 1: methylprednisolone and HCQ for 2 years; neutrophil level returned to normal
- Case 2: allogeneic hematopoietic stem cell transplantation; stopped antibiotics, steroids and all immunosuppressors
Original publication
Paediatric autoimmune diseases with ELANE mutations associated with neutropenia. Pediatr Rheumatol Online J. Published 28 April 2023. doi:10.
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