Table 1

Clinical features of the 14 patients with relapsing polychondritis and UBA1 variants detected by Sanger sequencing

Patient IDRP01RP02RP03RP04RP05RP07RP08RP10RP11RP12RP13RP14RP15RP16
Sex (M, male: F, female)M* F* M* M* M* MMFMMMMMM
Age of onset (years)78.693.181.168.771.384.272.843.278.570.366.359.973.566.6
UBA1 variants p.Met41 by Sanger sequencingc.121A>C: p.Met41Leuc.121A>G: p.Met41Valc.121A>G: p.Met41Valc.122T>C: p.Met41Thrc.121A>C: p.Met41LeuNAc.122T>C: p.Met41Thrc.122T>C: p.Met41Thrc.121A>C: p.Met41Leu
Clinical findings
Skin involvement++++++++
ChondritisA†, N, RN, R†A, R†A†, R‡A†, R‡A†A†N†, RA†A, NA, NA†, RA†A†
Ocular inflammation++++++
Audio-vestibular damage+
Macrocytic anaemia+++++++++
Bone marrow vacuoles+NANA++NANA++NANA++
OthersMDSMDS, IP, endocarditisMDS, DVT, Sweet's syndromeMDSMDSPeritonitis, pericarditis, meningitisArteritis, MDS, DVT
Anti-type II collagen antibody+NANA++NA++NA
Diagnostic criteria of RP
McAdam et al 12 3/62/62/63/61/61/62/62/62/63/64/63/61/62/6
Damiani et al 13 YesYesYesYesYesYesYesYesYesYesYesYesYesYes
Michet et al 14 YesYesYesNoNoNoNoYesNoYesYesYesYesNo
TreatmentPSLPSL, colchicinePSL, AZP, colchicinePSL, MTX, CyAPSL, AZP, MTX, MZB, ETNPSLPSL, IVIg, MTX, IFX, colchicinePSL, MTX,TAC, TCZPSL, AZP, CyAPSLPSL, TCZ, colchicinePSL, POCYPSL, TCZPSL, AZP, TCZ, colchicine
  • *Deceased.

  • †Confirmed by biopsy.

  • ‡Confirmed by autopsy.

  • A, auricular; AZP, azathioprine; CyA, cyclosporine; DVT, deep vein thrombosis; ETN, etanercept; IFX, infliximab; IP, interstitial pneumonia; IVIg, intravenous immunoglobulin; MDS, myelodysplastic syndrome; MTX, methotrexate; MZB, mizoribine; N, nasal; NA, not available; POCY, oral cyclophosphamide; PSL, prednisolone; R, respiratory tract; RP, relapsing polychondritis; TAC, tacrolimus; TCZ, tocilizumab; UBA1, ubiquitin-like modifier activating enzyme 1.