Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

Proceedings of the National Academy of Sciences of the United States of America

Volumn 113, Issue 36, 2016, Pages 10127-10132

  Zhou, Qing ^a   Yu, Xiaomin ^b   Demirkaya, Erkan ^c   Deuitch, Natalie ^a   Stone, Deborah ^a   Tsai, Wanxia Li ^d   Kuehn, Hye Sun ^e   Wang, Hongying ^a   Yang, Dan ^f   Park, Yong Hwan ^a   Ombrello, Amanda K ^a   Blake, Mary ^d   Romeo, Tina ^a   Remmers, Elaine F ^a   Chae, Jae Jin ^a   Mullikin, James C ^a   Güzel, Ferhat ^c   Milner, Joshua D ^b   Boehm, Manfred ^f   Rosenzweig, Sergio D ^e   Gadina, Massimo ^d   Welch, Steven B ^g   Özen, Seza ^h   Topaloglu, Rezan ^h   Abinun, Mario ⁱ   Kastner, Daniel L ^a   Aksentijevich, Ivona ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c GULHANE SCHOOL OF MEDICINE   (Turkey)

^d NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

^f NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^g UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^h HACETTEPE UNIVERSITY   (Turkey)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Autoinflammatory disease; Cytokines; Linear deubiquitinase; Nf b pathway; OTULIN

Indexed keywords

DEUBIQUITINASE; GAMMA INTERFERON; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 12; INTERLEUKIN 12P40; INTERLEUKIN 16; INTERLEUKIN 17; INTERLEUKIN 18; INTERLEUKIN 1ALPHA; INTERLEUKIN 1BETA; INTERLEUKIN 6; MITOGEN ACTIVATED PROTEIN KINASE P38; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; STRESS ACTIVATED PROTEIN KINASE; TUMOR NECROSIS FACTOR; UBIQUITIN; CYTOKINE; GUMBY PROTEIN, HUMAN; PROTEINASE;

AUTOINFLAMMATORY DISEASE; B LYMPHOCYTE; BLOOD SAMPLING; CASE REPORT; CONFERENCE PAPER; CONTROLLED STUDY; DENDRITIC CELL; DIARRHEA; ENZYME ACTIVITY; FAILURE TO THRIVE; FEMALE; FEVER; FIBROBLAST; FRAMESHIFT MUTATION; GENOTYPE; HEK293 CELL LINE; HUMAN; HUMAN CELL; IMMUNOSUPPRESSIVE TREATMENT; JOINT SWELLING; LIPODYSTROPHY; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MONOCYTE; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; OTULIPENIA; PANNICULITIS; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN STABILITY; SIGNAL TRANSDUCTION; T LYMPHOCYTE; UBIQUITINATION; ALLELE; CHILD; CONSANGUINITY; DEFICIENCY; DERMATITIS; ENZYMOLOGY; GENE EXPRESSION REGULATION; GENETICS; HEREDITARY PERIODIC FEVER; IMMUNOLOGY; MONONUCLEAR CELL; MUTATION; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD;

AGE OF ONSET; ALLELES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CYTOKINES; DERMATITIS; ENDOPEPTIDASES; FAILURE TO THRIVE; FEMALE; FEVER; FIBROBLASTS; GENE EXPRESSION REGULATION; HEK293 CELLS; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; LEUKOCYTES, MONONUCLEAR; MALE; MUTATION; NF-KAPPA B; PANNICULITIS; PEDIGREE; SIGNAL TRANSDUCTION; UBIQUITIN;

EID: 84985992152     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1612594113     Document Type: Article

References (19)

1. Gerlach B, et al. (2011) Linear ubiquitination prevents inflammation and regulates immune signalling. Nature 471(7340):591-596.
2. Tokunaga F, et al. (2011) SHARPIN is a component of the NF-κB-activating linear ubiquitin chain assembly complex. Nature 471(7340):633-636.
3. Boisson B, et al. (2012) Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol 13(12): 1178-1186.
4. Boisson B, et al. (2015) Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J Exp Med 212(6):939-951.
5. Ombrello MJ, Kastner DL, Milner JD (2012) HOIL and water: The two faces of HOIL-1 deficiency. Nat Immunol 13(12):1133-1135.
6. Draber P, et al. (2015) LUBAC-recruited CYLD and A20 regulate gene activation and cell death by exerting opposing effects on linear ubiquitin in signaling complexes. Cell Rep 13(10):2258-2272.
7. Keusekotten K, et al. (2013) OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1-linked polyubiquitin. Cell 153(6):1312-1326.
8. Rivkin E, et al. (2013) The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis. Nature 498(7454):318-324.
9. Hrdinka M, et al. (2016) CYLD limits Lys63- and Met1-linked ubiquitin at receptor complexes to regulate innate immune signaling. Cell Rep 14(12):2846-2858.
10. Zhou Q, et al. (2016) Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet 48(1):67-73.
11. Ma A, Malynn BA (2012) A20: Linking a complex regulator of ubiquitylation to immunity and human disease. Nat Rev Immunol 12(11):774-785.
12. Schaeffer V, et al. (2014) Binding of OTULIN to the PUB domain of HOIP controls NFκB signaling. Mol Cell 54(3):349-361.
13. Israël A (2010) The IKK complex, a central regulator of NF-kappaB activation. Cold Spring Harb Perspect Biol 2(3):a000158.
14. Wertz IE, et al. (2015) Phosphorylation and linear ubiquitin direct A20 inhibition of inflammation. Nature 528(7582):370-375.
15. Rodgers MA, et al. (2014) The linear ubiquitin assembly complex (LUBAC) is essential for NLRP3 inflammasome activation. J Exp Med 211(7):1333-1347.
16. MacDuff DA, et al. (2015) Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection. eLife 4:4.
17. Ikeda F, et al. (2011) SHARPIN forms a linear ubiquitin ligase complex regulating NFκB activity and apoptosis. Nature 471(7340):637-641.
18. Peltzer N, et al. (2014) HOIP deficiency causes embryonic lethality by aberrant TNFR1-mediated endothelial cell death. Cell Reports 9(1):153-165.
19. Bignell GR, et al. (2000) Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 25(2):160-165.