A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations

Journal of the American Academy of Dermatology

Volumn 69, Issue 1, 2013, Pages

  McDermott, Amelia ^a   Jesus, Adriana Almeida ^b   Liu, Yin ^b   Kim, Peter ^b   Jacks, Jennifer ^c   Montealegre Sanchez, Gina A ^b   Chen, Yongqing ^b   Kannan, Aarthi ^a   Schnebelen, Alicia ^a   Emanuel, Peter D ^a   Shalin, Sara ^a   Hiatt, Kim ^d   Goldbach Mansky, Raphaela ^b   Gao, Ling ^a  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

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

^c Jacks Dermatology PA   (United States)

^d PA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ANTINUCLEAR ANTIBODY; AUTOANTIBODY; C REACTIVE PROTEIN; CD68 ANTIGEN; CREATINE KINASE; DNA; FRUCTOSE BISPHOSPHATE ALDOLASE; GAMMA INTERFERON INDUCIBLE PROTEIN 10; IMMUNOGLOBULIN; IMMUNOGLOBULIN E; IMMUNOGLOBULIN M; INTERLEUKIN 6; NEUTROPHIL CYTOPLASMIC ANTIBODY; PROTEASOME; PROTEASOME SUBUNIT BETA TYPE 8; RHEUMATOID FACTOR; THYROTROPIN; UNCLASSIFIED DRUG;

ADIPOCYTE; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALKALINE PHOSPHATASE BLOOD LEVEL; AUTOINFLAMMATORY DISEASE; BONE MARROW BIOPSY; CASE REPORT; CELL INFILTRATION; COMPUTER ASSISTED TOMOGRAPHY; DISEASE DURATION; DNA SEQUENCE; EPIDERMIS; FOLLOW UP; GENETIC SCREENING; HETEROZYGOTE; HISPANIC; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN BLOOD LEVEL; LETTER; LEUKOCYTOSIS; LIPODYSTROPHY; MALE; MISSENSE MUTATION; MONONUCLEAR CELL; MYOSITIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PAPULE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEASOME ASSOCIATED AUTOINFLAMMATORY SYNDROME; PROTEIN BLOOD LEVEL; RASH; RECURRENT FEVER; SKIN BIOPSY; SKIN NODULE;

EID: 84879074171     PISSN: 01909622     EISSN: 10976787     Source Type: Journal    
DOI: 10.1016/j.jaad.2013.01.015     Document Type: Article

References (5)

1. K. Arima, A. Kinoshita, H. Mishima, N. Kanazawa, T. Kaneko, and T. Mizushima Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome Proc Natl Acad Sci U S A 108 2011 14914 14919
2. A. Kitamura, Y. Maekawa, H. Uehara, K. Izumi, I. Kawachi, and M. Nishizawa A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans J Clin Invest 121 2011 4150 4160
3. A.K. Agarwal, C. King, G.N. DeMartino, D. Mizrachi, M.D. Hernandez, and A.B. Sousa PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome Am J Hum Genet 87 2010 866 872
4. Y. Liu, Y. Ramot, A. Torrelo, A.S. Paller, N. Si, and S. Babay Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity Arthritis Rheum 64 2012 895 907
5. U. Seifert, L.P. Bialy, F. Ebstein, D. Bech-Otschir, A. Voigt, and F. Schröter Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress Cell 142 2010 613 624