Patient 1 | Patient 2 | Patient 3 | |
---|---|---|---|
Age at diagnoses (years) | 13.5 | 6.8 | 8.8 |
Age of aSCT (years) | 16.3 | 7.8 | 16.6 |
Gender | F | F | F |
Duration of disease to aSCT (years) | 2.8 | 1 | 7.8 |
Follow-up after aSCT (years) | 7 | 6 | 3 |
CMAS score (0–52), before aSCT (lowest measured) | 13 (5) | 11.5 (4) | 38 (25) |
MMT8 score (0–80), before aSCT or modified conditioning | 36 | 19 | 52 |
PhyGloVAS score (0–100), before/after aSCT | 40/10* | 40/0 | 40/10 |
Major organ involvement | Absent | Absent | Absent |
Autoantibodies before aSCT† | |||
ANA | + | + | + |
anti-SSA-52, anti-SSA-60, anti-SS-B, anti-Sm, anti-nRNP/Sm, anti-AMA-M2, anti-Centromere-B, anti-dsDNA Lineblot, anti-Histones, anti-Jo-1, anti-Nucleosomes, anti-PM-Scl, anti-Ribosomal-P, anti-Scl-70 | – | – | – |
Autoantibodies after aSCT | |||
ANA | Weakly positive | Weakly positive | + |
anti-SSA-52, anti-SSA-60, anti-SS-B, anti-Sm, anti-nRNP/Sm, anti-AMA-M2, anti-Centromere-B, anti-dsDNA Lineblot, anti-Histones, anti-Jo-1, anti-Nucleosomes, anti-PM-Scl, anti-Ribosomal-P, anti-Scl-70 | − | − | − |
Medication used before aSCT | |||
Prednisone (high dose) | Received | Received | Received |
Methylprednisone (repeated pulses) | Not received | Received | Received |
Methotrexate | Received | Received | Received |
Ciclosporin A | Received | Not received | Received |
Rituximab | Received | Received | Received |
IVIG | Received | Received | Received |
Tacrolimus | Not received | Received | Received |
Mycofenolate mofetil | Not received | Not received | Received |
Hydroxychloroquine | Not received | Not received | Received |
Mesenchymal stem cell infusion | Received | Not received | Not received |
Muscle enzymes: 2 weeks before aSCT | |||
CK (U/L) | 54 | 73 | 100 |
AST (IU/L) | 33 | 34 | 43 |
ALT (IU/L) | 22 | 17 | 28 |
LDH (IU/L) | 229 | 359 | 513 |
Inflammation markers: 2 weeks before aSCT | |||
CRP (mg/L) | 0.06 | 16 | <2 |
ESR (mm/h) | Not done | 38 | 26 |
Stem cell mobilisation | |||
Cyclophosphamide | Received | Received | Received |
G-CSF (Filgrastim) for 5 days | |||
Conditioning | |||
Cyclophosphamide (Endoxan) | Received | Received | Received |
Fludarabin | Received | Received | Received |
ATG | Received | Received | Received |
Stem cell transplantation | |||
CD3/CD19 depletion | Done | Done | Not done |
CD34+ selection | Not done | Not done | Done |
Side effects of stem cell transplantation: short-term effects as severe infections and organ toxicity related to chemotherapy, long-term effects as malignancies or secondary autoimmunity | Autoimmune thyroiditis | None | None |
Current immunosuppressive treatment | None | None | None |
*PhyGloVAS increased in this patient due to fatigue related to an autoimmune thyroiditis, MRI did not show any sign for myositis.
†Weakly positive: 1/40–1/100, positive 1/100–1/1000 serum dilution.
ALT, alanine transaminase; ANA, anti-nuclear antibodies; aSCT, autologous stem cell transplantation; AST, aspartate transaminase; CK, creatine kinase; CMAS, Childhood Myositis Assessment Scale; CRP, C reactive protein; ESR, erythrocyte sedimentation rate; G-CSF granulocyte colony stimulating factor; IVIG, intravenous immunoglobulins; JDM, juvenile dermatomyositis; LDH, lactate dehydrogenase; MMT, manual muscle testing; PhyGloVas, physician's global assessment of the patient's overall disease activity on a 100 mm visual analogue scale (0–100).