Autoimmune diseases have been reported in association with neurofibromatosis type 1 (NF1) in adults. Two children with NF1 and concurrent autoimmune diseases: antimuscle-specific kinase antibody-positive myasthenia and juvenile idiopathic arthritis are reported. The possible mechanisms of autoimmunity in NF1, particularly dysregulation in T lymphocyte proliferation and exposure to free DNA were discussed. In clinical practice, the possibility of a superposed disorder is to be considered, particularly on the background of a common clinical condition like NF1.
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