1. Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease 
Maria Quaranta, Rachel Wilson 
Gastroenterology 
Volume 155, Issue 1, Pages (July 2018)
DOI: /j.gastro
Copyright © 2018 AGA Institute Terms and Conditions

2. Figure 1
Clinical and functional characteristics of an XIAP-deficient patient with Mendelian disorder-associated inflammatory bowel disease. (A) Clinical course of an XIAP-deficient patient with hospitalization and operations/investigations under anesthesia indicated. (B) Perianal disease, wound healing defect, and histology. (C) Sanger sequencing of the patient with hemizygous XIAP c.145C>T in comparison with a control. (D) Absent XIAP protein expression in CD4+ and CD8+ CD3+ T cells in the patient with XIAP p.R49* as indicated by fluorescence-activated cell sorting. (E) Absent tumor necrosis factor expression in response to muramyl dipeptide (L18 MDP) but normal responsiveness to LPS in HLA-DR+ monocytes of the patient with XIAP p.R49* as indicated by fluorescence-activated cell sorting.
Gastroenterology  , DOI: ( /j.gastro )
Copyright © 2018 AGA Institute Terms and Conditions