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Table 1 Clinical and laboratory findings of cases 1–3

From: Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

 Case 1Case 2Case 3
GenderFemaleFemaleFemale
Age at presentationNeonate22 months16 years
Failure to thriveYesUnknownUnknown
RashNoYesUnknown
ILDYesYesYes
ArthritisNoPolyarticular JIAPolyarticular JIA
CRP (mg/L)56< 5–463a
Hb (g/L)7.1 (NR 11.4–14.1)11.1 (NR 11.5–16.5)12.1 (NR 11.5–16.5)
C3 (g/L)1.47 (NR 0.9–1.8)1.65 (NR 0.75–1.65)Unknown
C4 (g/L)0.24 (NR 0.1–0.4)0.2 (NR 0.14–0.54)Unknown
IgG (g/L)11.49 (NR 2.4–8.8)26.0 (NR 6.0–16.0)10.10 (NR 6.0–16.0)
IgA (g/L)0.66 (NR 0.1–0.5)3.5 (NR 0.5–2.4)3.06 (NR 0.8–2.8)
IgM (g/L)1.36 (NR 0.2–1.0)2.1 (NR 0.5–1.8)1.26 (NR 0.5–1.9)
Anti-smooth musclePositiveNegativeNegative
ANANegative1:3201:80/negativeb
ENANegativeNegativeNegative
Anti-dsDNA (mg/L)NegativeNegative1.2
RF (IU/mL)Negative123797
Anti-CCPNot performedNegativeNot performed
  1. ANA Anti-nuclear antibody (NR < 1:80), Anti-CCP Anti-cyclic citrullinated peptide, Anti-dsDNA (NR < 5 mg/L), Anti-smooth muscle (NR < 1:10), C Complement (< 5 mg/l), CRP C-reactive protein, ENA Extractable nuclear antigen (NR < 1:80), Hb Haemoglobin, Ig Immunoglobulin, ILD Interstitial lung disease, NR Normal range, RF Rheumatoid factor (NR < 30 IU/mL). aOn single measurement. bFirst test was positive with value shown, second test was negative