Article
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.
Nature immunology - 1 Jan 2022
Kubo Satoshi, Fritz Jill M, Raquer-McKay Hayley M, Kataria Rhea, Vujkovic-Cvijin Ivan, Al-Shaibi Ahmad, Yao Yikun, Zheng Lixin, Zou Juan, Waldman Alex D, Jing Xinyi, Farley Taylor K, Park Ann Y, Oler Andrew J, Charles Adrian K, Makhlouf Melanie, AbouMoussa Eman H, Hasnah Reem, Saraiva Luis R, Ganesan Sundar, Al-Subaiey Abdulrahman Ahmed, Matthews Helen, Flano Emilio, Lee Hyun Hee, Freeman Alexandra F, Sefer Asena Pınar, Sayar Ersin, Çakır Erkan, Karakoc-Aydiner Elif, Baris Safa, Belkaid Yasmine, Ozen Ahmet, Lo Bernice, Lenardo Michael J
Abstract excerpt
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 infectious hemorrhagic colitis but no lung involvement and the other two experienced recurrent respiratory infections. Loss of iRHOM2, a rhomboid superfamily member...
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