Fig. 1

Autoimmune arthritis in proband with GATA3 mutation. a The proband clinical course from diagnosis of psoriatic JIA at time 0 to 17 months post diagnosis. Two episodes of clinical arthritis are black bars with the time of therapy initiation denoted by a downward arrow. The erythrocyte sedimentation rate (ESR) in millimeters per hour and C-reactive protein (CRP) in milligrams per liter are shown with abnormal values highlighted in red. Total white blood cells per microliter (WBC), absolute lymphocytes per microliter, and CD4+ cell values remain around the lower limits of normal. Normal lab values are denoted as shaded areas. b The functional transactivation and zinc finger domains of GATA3 aligned to GATA3 and the proband M401VfsX106. Exons are numbered. The mutant C-terminal extension is red. c Sequencing of complementary DNA in PBMCs from the proband and parent; the colors represent bases: green denotes A, red T, black G, and blue C. The arrow indicates the mutated residue. The proband has equal transcript of GATA3 and M401VfsX106 sequences. d Western blot analysis of GATA3 in PBMC from the parent, proband, and sibling showing GATA3 and M401VfsX106. Actin is a loading control