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pro vyhledávání: '"Abdulrahman Ahmed Al-Subaiey"'
Autor:
Satoshi Kubo, Jill M. Fritz, Hayley M. Raquer-McKay, Rhea Kataria, Ivan Vujkovic-Cvijin, Ahmad Al-Shaibi, Yikun Yao, Lixin Zheng, Juan Zou, Alex D. Waldman, Xinyi Jing, Taylor K. Farley, Ann Y. Park, Andrew J. Oler, Adrian K. Charles, Melanie Makhlouf, Eman H. AbouMoussa, Reem Hasnah, Luis R. Saraiva, Sundar Ganesan, Abdulrahman Ahmed Al-Subaiey, Helen Matthews, Emilio Flano, Hyun Hee Lee, Alexandra F. Freeman, Asena Pınar Sefer, Ersin Sayar, Erkan Çakır, Elif Karakoc-Aydiner, Safa Baris, Yasmine Belkaid, Ahmet Ozen, Bernice Lo, Michael J. Lenardo
Publikováno v:
Nature immunology. 23(1)
We report a pleiotropic disease due to loss-of-function mutations in RHBDF2, the gene encoding iRHOM2, in two kindreds with recurrent infections in different organs. One patient had recurrent pneumonia but no colon involvement, another had recurrent