Browsing by Author "Farley, Taylor K."
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Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease
Kubo, Satoshi; 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; Karakoç-Aydıner, Elif; Barış, Safa ; Belkaid , Yasmine; Özen, Ahmed; Lo, Bernice; Lenardo , Michael J. (Nature Immunology, 2022)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 ...
