A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants

Parlar K., TAHİR TURANLI E., NUHOĞLU KANTARCI F. E., HACIOĞLU A., KİREÇTEPE AYDIN A., Ayla A. Y., ...More

MODERN RHEUMATOLOGY CASE REPORTS, vol.8, no.1, pp.121-124, 2024 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 1
  • Publication Date: 2024
  • Doi Number: 10.1093/mrcr/rxad045
  • Journal Name: MODERN RHEUMATOLOGY CASE REPORTS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.121-124
  • Keywords: deficiency of adenosine deaminase 2, familial Mediterranean fever, ADA2, cutaneous polyarteritis nodosa, MEFV
  • Erciyes University Affiliated: Yes

Abstract

Deficiency of adenosine deaminase 2 (DADA2), caused by recessive mutations in the adenosine deaminase 2 (ADA2) gene, results in cutaneous or systemic vasculitis with variable clinical manifestations. There is only one other case in literature carrying both ADA2 and MEFV gene pathogenic variants. Here we report the second case that carries both ADA2 and MEFV pathogenic variants, presenting with characteristic phenotypes of both familial Mediterranean fever (FMF) and DADA2. A male patient, currently 29 years old, was initially diagnosed with FMF and developed livedo reticularis and nodular dermal lesions compatible with cutaneous polyarteritis nodosa (PAN) a year after diagnosis. His family history revealed a brother 2 years older than himself who was diagnosed with PAN and died at age 22 because of gut perforation secondary to acute mesenteric ischaemia. ADA2 gene mutation analysis on chromosome 22q11.1 was positive, and the patient responded to colchicine and infliximab.