Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene

Figure 1 Analysis of Wiskott-Aldrich syndrome protein in patients’ lymphocytes (A). Histograms represent intracellular Wiskott-Aldrich syndrome protein (WASP) staining (shaded area) and negative staining (unshaded area). Three patients with childhood-onset IBD presented low expression of WASP compared with that in the healthy control. B: WAS gene analysis. The three patients who showed low expression of WASP had the same mutation, c.1378C>T p.Pro460Ser.

Figure 2 Cutaneous manifestations of Patient 1 (scaling eczema and pigmentation).

Figure 3 Endoscopic findings in the patients with WAS c. 1378C>T, p.Pro460Ser mutation. A: Patient 1: long linear ulcerations and cobble stone appearance in the ileum. B and C: Patient 2: edematous and friable mucosa with superficial bleeding in the descending colon and sigmoid colon. D: Patient 3: edematous mucosa with granularity and erythema in the rectum.