Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease - Zhou, Qing; Yu, Xiaomin; Demirkaya, Erkan; Deuitch, Natalie; Stone, Deborah; Tsai, Wanxia Li; Kuehn, Hye Sun; Wang, Hongying; Yang, Dan; Park, Yong Hwan; Ombrello, Amanda K.; Blake, Mary; et al. (Proceedings of the National Academy of Sciences - PNAS, 2016)
Keywords: Age of Onset; Alleles; Biological Sciences; Cells; Child; Child, Preschool; Consanguinity; Cytokines; Cytokines - genetics; Cytokines - immunology; Dermatitis; Dermatitis - physiopathology; Endopeptidases - deficiency; Endopeptidases - genetics; Endopeptidases - immunology; Enzymatic activity; Failure to Thrive - physiopathology; Female; Fever - physiopathology; Fibroblasts - enzymology; Fibroblasts - immunology; Fibroblasts - pathology; Gene Expression Regulation; Genes; HEK293 Cells; Hereditary Autoinflammatory Diseases - diagnosis; Hereditary Autoinflammatory Diseases - enzymology; Hereditary Autoinflammatory Diseases - genetics; Hereditary Autoinflammatory Diseases - pathology; Humans; Leukocytes, Mononuclear - enzymology; Leukocytes, Mononuclear - immunology; Leukocytes, Mononuclear - pathology; Male; Molecules; Mutation; NF-kappa B - genetics; NF-kappa B - immunology; Panniculitis - physiopathology; Pedigree; Signal Transduction; Ubiquitin - genetics; Ubiquitin - immunology; linear deubiquitinase; cytokines; autoinflammatory disease; NF-κB pathway; OTULIN