KEGG   DISEASE: Proteasome-associated autoinflammatory syndrome
Entry
H02532                      Disease                                
Name
Proteasome-associated autoinflammatory syndrome
  Subgroup
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
Pathway
hsa03050  Proteasome
Gene
(PRAAS1) PSMB8 [HSA:5696] [KO:K02740]
(PRAAS2) POMP [HSA:51371] [KO:K11599]
(PRAAS3) PSMB4 [HSA:5692] [KO:K02736]
(PRAAS3/PRAAS6) PSMB9 [HSA:5698] [KO:K02741]
(PRAAS4) PSMG2 [HSA:56984] [KO:K11876]
(PRAAS5) PSMB10 [HSA:5699] [KO:K02733]
Other DBs
ICD-11: 4A60.Y
MeSH: D056660
OMIM: 256040 618048 617591 619183 619175 620796
Reference
  Authors
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.
  Journal
Proc Natl Acad Sci U S A 108:14914-9 (2011)
DOI:10.1073/pnas.1106015108
Reference
PMID:26524591 (PRAAS1 PRAAS3)
  Authors
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.
  Journal
J Clin Invest 125:4196-211 (2015)
DOI:10.1172/JCI81260
Reference
PMID:29805043 (PRAAS2)
  Authors
Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B, Zieba BA, Kury S, Kruger E, Lupski JR, Bostwick BL, Orange JS
  Title
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
  Journal
Am J Hum Genet 102:1126-1142 (2018)
DOI:10.1016/j.ajhg.2018.04.010
Reference
PMID:30664889 (PRAAS4)
  Authors
de Jesus AA, Brehm A, VanTries R, Pillet P, Parentelli AS, Montealegre Sanchez GA, Deng Z, Paut IK, Goldbach-Mansky R, Kruger E
  Title
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
  Journal
J Allergy Clin Immunol 143:1939-1943.e8 (2019)
DOI:10.1016/j.jaci.2018.12.1012
Reference
PMID:31783057 (PRAAS5)
  Authors
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.
  Journal
J Allergy Clin Immunol 145:1015-1017.e6 (2020)
DOI:10.1016/j.jaci.2019.11.024
Reference
PMID:34819510 (PRAAS6)
  Authors
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.
  Journal
Nat Commun 12:6819 (2021)
DOI:10.1038/s41467-021-27085-y
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