Autoinflammation lipodystrophy and dermatosis syndrome [DS:H01741]
Description
Proteasome-associated autoinflammatory syndrome (PRAAS) is also known as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE). PRAAS is a rare autoinflammatory interferonopathy caused by loss-of-function mutations in proteasome genes. In contrast to what occurs in many other autoinflammatory diseases, patients with PRAAS do not respond to IL-1 inhibition.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Autoinflammatory disorders
4A60 Monogenic autoinflammatory syndromes
H02532 Proteasome-associated autoinflammatory syndrome
Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K
Title
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Kruger E, Aksentijevich I, Goldbach-Mansky R
Title
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Sarrabay G, Mechin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, Bondet V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I
Title
PSMB10, the last immunoproteasome gene missing for PRAAS.
Kanazawa N, Hemmi H, Kinjo N, Ohnishi H, Hamazaki J, Mishima H, Kinoshita A, Mizushima T, Hamada S, Hamada K, Kawamoto N, Kadowaki S, Honda Y, Izawa K, Nishikomori R, Tsumura M, Yamashita Y, Tamura S, Orimo T, Ozasa T, Kato T, Sasaki I, Fukuda-Ohta Y, Wakaki-Nishiyama N, Inaba Y, Kunimoto K, Okada S, Taketani T, Nakanishi K, Murata S, Yoshiura KI, Kaisho T
Title
Heterozygous missense variant of the proteasome subunit beta-type 9 causes neonatal-onset autoinflammation and immunodeficiency.