中條-西村症候群 [DS:H01741]

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

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 108:14914-9 (2011)
DOI:10.1073/pnas.1106015108

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

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

J Clin Invest 125:4196-211 (2015)
DOI:10.1172/JCI81260

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

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Am J Hum Genet 102:1126-1142 (2018)
DOI:10.1016/j.ajhg.2018.04.010

de Jesus AA, Brehm A, VanTries R, Pillet P, Parentelli AS, Montealegre Sanchez GA, Deng Z, Paut IK, Goldbach-Mansky R, Kruger E

Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.

J Allergy Clin Immunol 143:1939-1943.e8 (2019)
DOI:10.1016/j.jaci.2018.12.1012

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

PSMB10, the last immunoproteasome gene missing for PRAAS.

J Allergy Clin Immunol 145:1015-1017.e6 (2020)
DOI:10.1016/j.jaci.2019.11.024

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

Heterozygous missense variant of the proteasome subunit beta-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Nat Commun 12:6819 (2021)
DOI:10.1038/s41467-021-27085-y