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    Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease

    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 ...

    Satoshi Kubo, Jill M. Fritz, Hayley M. Raquer-McKay, Rhea Kataria… in Nature Immunology (2022)