Fig. 1
Systemic autoimmunity in three patients from two families. a Pedigree of families A and B. Filled symbols – affected patients (P). b Colon biopsy of P1 reveals T-cell infiltration (red: anti-CD3). c Fecal calprotectin values reveal therapy-dependent reduction of bowel inflammation in P1. d Duodenal biopsies at the age of 5 months (top) showed incomplete villous atrophy with villi focally reduced and plump (closed arrows). The inflammatory infiltrate contains clusters of eosinophilic granulocytes (lined arrows) and only few crypts with isolated apoptotic figures (asterisk). At the age of 16 months (bottom, 1 month of therapy with Abatacept, see Fig. S1e) duodenal biopsies showed presence of villi (closed arrows) and no signs of acute inflammation in the lamina propria (asterisk) of P1. e Perianal fissures of P1 before (top) and after (bottom) therapy initiation present a marked improvement of patient quality of life (m - months)
