Maria Quaranta, Rachel Wilson Gastroenterology

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Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease Maria Quaranta, Rachel Wilson Gastroenterology Volume 155, Issue 1, Pages 231-234 (July 2018) DOI: 10.1053/j.gastro.2018.03.069 Copyright © 2018 AGA Institute Terms and Conditions

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 2018 155, 231-234DOI: (10.1053/j.gastro.2018.03.069) Copyright © 2018 AGA Institute Terms and Conditions