Published online Dec 28, 2017. doi: 10.3748/wjg.v23.i48.8544
Peer-review started: November 1, 2017
First decision: November 14, 2017
Revised: November 21, 2017
Accepted: November 27, 2017
Article in press: November 27, 2017
Published online: December 28, 2017
To screen primary immunodeficiency, Wiskott-Aldrich syndrome (WAS), and chronic granulomatous disease (CGD) among children with inflammatory bowel disease (IBD).
This was a single-center retrospective study. Eighteen children with IBD were investigated. We analyzed their expression of Wiskott-Aldrich syndrome protein (WASP) in lymphocytes and superoxide generation in phagocytes using flow cytometry. When the expression of WASP or superoxide generation was low or absent, we performed genetic analysis to determine the cause of this.
Eighteen patients were classified as having ulcerative colitis (n = 10), Crohn’s disease (n = 5), or IBD-unclassified (n = 3). In total, three patients revealed low expression of WASP associated with a WAS gene c.1378 C>T p.Pro460Ser mutation, which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia. However, with respect to the major symptoms of WAS, none of these three patients showed either thrombocytopenia or increased susceptibility to infection, but one patient showed generalized eczema. No CGD patients were discovered in this study.
Despite the lack of typical clinical manifestations of WAS, low expression of WASP could be associated with the pathogenesis of a subtype of IBD patients.
Core tip: Inflammatory bowel disease (IBD) has multiple etiologies, including genetic and environmental factors. Recent reports have described how some children with Wiskott-Aldrich syndrome (WAS) present IBD or IBD-like gastroenterocolitis. In this study, we found a WAS c.1378C>T, p.Pro460Ser mutation in three children with IBD. These patients did not present typical symptoms of WAS, such as thrombocytopenia and recurrent infection. However, WAS is known to be associated with an increased risk of malignancies including lymphoma, as well as autoimmune diseases. Therefore, in any long-term follow-up, the analysis of WASP expression in children with IBD should be considered even if major symptoms of WAS are absent.