This is a preview of subscription content, log in via an institution to check access.
References
Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, et al. PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010;87(6):866–72.
Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci USA. 2011;108(36):14914–9.
Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015;125(11):4196–211.
Buchbinder D, Montealegre Sanchez GA, Goldbach-Mansky R, Brunner H, Shulman AI. Rash, fever, and pulmonary hypertension in a 6-year-old female. Arthritis Care Res. 2018;70(5):785–90.
de Jesus AA, Brehm A, VanTries R, Pillet P, Parentelli AS, Montealegre Sanchez GA, et al. Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. The Journal of allergy and clinical immunology. 2019;143(5):1939–43 e8.
Garg A, Hernandez MD, Sousa AB, Subramanyam L, Martinez de Villarreal L, dos Santos HG, et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J Clin Endocrinol Metab. 2010;95(9):E58–63.
Goldberg AL. Functions of the proteasome: from protein degradation and immune surveillance to cancer therapy. Biochem Soc Trans. 2007;35(Pt 1):12–7.
Kim H, Sanchez GA, Goldbach-Mansky R. Insights from Mendelian Interferonopathies: comparison of CANDLE, SAVI with AGS, monogenic lupus. J Mol Med (Berl). 2016;94(10):1111–27.
Kim H, de Jesus AA, Brooks SR, Liu Y, Huang Y, VanTries R, et al. Development of a validated interferon score using NanoString technology. J Interferon Cytokine Res. 2018;38(4):171–85.
Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest. 2011;121(10):4150–60.
Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, et al. Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2012;64(3):895–907.
Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, et al. Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune Dysregulatory syndrome. Am J Hum Genet. 2018;102(6):1126–42.
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, et al. JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. J Clin Invest. 2018;128(7):3041–3052.
Tanaka M, Miyatani N, Yamada S, Miyashita K, Toyoshima I, Sakuma K, et al. Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome. Intern Med. 1993;32(1):42–5.
Torrelo A, Patel S, Colmenero I, Gurbindo D, Lendinez F, Hernandez A, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 2010;62(3):489–95.
Torrelo A, Colmenero I, Requena L, Paller AS, Ramot Y, Richard Lee CC, et al. Histologic and immunohistochemical features of the skin lesions in CANDLE syndrome. Am J Dermatopathol. 2015;37(7):517–22.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Section Editor information
Rights and permissions
Copyright information
© 2020 This is a U.S. Government work and not under copyright protection in the U.S.; foreign copyright protection may apply
About this entry
Cite this entry
Montealegre Sanchez, G.A., de Jesus, A.A., Goldbach-Mansky, R. (2020). Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome (CANDLE)/Proteasome-Associated Autoinflammatory Syndromes (PRAAS). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_129-1
Download citation
DOI: https://doi.org/10.1007/978-1-4614-9209-2_129-1
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-9209-2
Online ISBN: 978-1-4614-9209-2
eBook Packages: Springer Reference MedicineReference Module Medicine