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Table 1 Characteristics of patients with TNFAIP3 missense variants

From: Functional analysis of novel A20 variants in patients with atypical inflammatory diseases

  Patient no.
  P1 P2 P3
Sex Male Female Female
Age of onset 11 m 12 y 12 y
Age of analysis 4 y 20 y 24 y
TNFAIP3 variant c.574G>A c.929T>C c.2126A>G
  p.Glu192Lys p.Ile310Thr p.Gln709Arg
Clinical symptom Recurrent fever, pharyngitis, coxitis Recurrent fever, abdominal pain Fever, facial erythema, proteinuria
Autoantibody No No ANA, anti-dsDNA, anti-Sm, anti-CL, anti-GAD antibody
The diagnosis before the identification of TNFAIP3 variants PFAPA Colchicine-resistant FMF (infliximab effective), erosion of the ileum Type 1 diabetes, SLE
With the same variant in the family Father (recurrent stomatitis, hemorrhoids, folliculitis) Mother (asymptomatic) Father (asymptomatic)
  1. m months, y years, ANA antinuclear antibody, anti-CL antibody anti-cardiolipin antibody, anti-GAD antibody anti-glutamic acid decarboxylase antibody, PFAPA periodic fever, aphthous stomatitis, pharyngitis, and adenitis, FMF familial Mediterranean fever, SLE systemic lupus erythematosus