Is There a Tendency for Autoimmunity in Neurofibromatosis Type 1? -Case Reports.

Esra S., Ceren G., SAĞ E., Hatice B., Fatma E., Banu A.

Indian journal of pediatrics, vol.89, pp.510-512, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 89
  • Publication Date: 2022
  • Doi Number: 10.1007/s12098-021-04010-1
  • Journal Name: Indian journal of pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CINAHL, EMBASE, MEDLINE
  • Page Numbers: pp.510-512
  • Keywords: Neurofibromatosis type 1, Autoimmunity, Myasthenia, Pain, Association
  • Hacettepe University Affiliated: Yes


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.