Dr. Shimaaの論文がPediatrics Intenationalに掲載されました!

Dr. Shimaaの論文がPediatrics Internationalに掲載されました。

Absent XIAP expression in T cell blasts and causal XIAP mutations including non-coding deletion

Shimaa Said Mohamed Ali Abdrabou, Nariaki Toita, Shin Ichihara, Yusuke Tozawa, Michiko Takahashi, Shin-ichi Fujiwara, Toshifumi Ashida, Osamu Ohara, Tadashi Ariga, Atsushi Manabe, Mutsuko Konno, Masafumi Yamada

PMID: 34145698
DOI: 10.1111/ped.14892

Four unrelated Japanese patients were diagnosed with X-linked inhibitor of apoptosis protein (XIAP) deficiency who presented with hemophagocytic lymphohistiocytosis and long-term refractory inflammatory bowel disease. Based on the absent XIAP expression in T-cell blasts, we studied the responsible gene, XIAP, and identified four distinct mutations including a novel deletion mutation encompassing non-coding exon 1 (5’UTR) of XIAP. They all showed endoscopic findings of multiple wide and longitudinal ulcers with “scooped-out appearance” in the colon, which might be commonly observed in XIAP deficiency.