Familial Mediterranean Fever After Cord Blood Transplantation for Familial Hemophagocytic Lymphohistiocytosis

J Pediatr Hematol Oncol. 2021 Nov 1;43(8):e1136-e1139. doi: 10.1097/MPH.0000000000002081.


Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder accompanied by periodic fever and sterile serositis. We report a 5-year-old boy with FMF, who underwent second unrelated cord blood transplantation (CBT) for recurrent familial hemophagocytic lymphohistiocytosis. Periodic attacks of fever and abdominal pain started 6 months after CBT. He was diagnosed with FMF according to the Tel-Hashomer criteria and treated successfully with colchicine. Genetic testing showed heterozygous p.E148Q mutation in the MEFV gene from both donor and recipient cells. Several CBT-related factors including use of an immunosuppressant can potentially be involved in the pathogenesis of FMF in our patient.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Cord Blood Stem Cell Transplantation / adverse effects*
  • Familial Mediterranean Fever / etiology
  • Familial Mediterranean Fever / pathology*
  • Humans
  • Lymphohistiocytosis, Hemophagocytic / genetics
  • Lymphohistiocytosis, Hemophagocytic / pathology
  • Lymphohistiocytosis, Hemophagocytic / therapy*
  • Male
  • Mutation*
  • Prognosis
  • Pyrin / genetics*


  • MEFV protein, human
  • Pyrin