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Literature DB >> 31783057

PSMB10, the last immunoproteasome gene missing for PRAAS.

Guillaume Sarrabay¹, Déborah Méchin², Aicha Salhi³, Guilaine Boursier², Cécile Rittore², Yanick Crow⁴, Gillian Rice⁵, Tu-Anh Tran⁶, Renaud Cezar⁷, Darragh Duffy⁸, Vincent Bondet⁸, Lakhdar Boudhane⁹, Christophe Broca¹⁰, Benjamin P Kant¹¹, Mariëlle VanGijn¹¹, Sylvie Grandemange², Eric Richard¹², Florence Apparailly¹³, Isabelle Touitou².

Abstract

Entities: Gene Species

Mesh：

Substances：

Year: 2019 PMID： 31783057 DOI： 10.1016/j.jaci.2019.11.024

Source DB: PubMed Journal: J Allergy Clin Immunol ISSN： 0091-6749 Impact factor: 10.793

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17 in total

Review 1. Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors: Ivona Aksentijevich; Oskar Schnappauf
Journal: Nat Rev Rheumatol Date: 2021-05-25 Impact factor: 20.543

2. The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.

Authors: Kader Cetin Gedik; Lovro Lamot; Micol Romano; Erkan Demirkaya; David Piskin; Sofia Torreggiani; Laura A Adang; Thais Armangue; Kathe Barchus; Devon R Cordova; Yanick J Crow; Russell C Dale; Karen L Durrant; Despina Eleftheriou; Elisa M Fazzi; Marco Gattorno; Francesco Gavazzi; Eric P Hanson; Min Ae Lee-Kirsch; Gina A Montealegre Sanchez; Bénédicte Neven; Simona Orcesi; Seza Ozen; M Cecilia Poli; Elliot Schumacher; Davide Tonduti; Katsiaryna Uss; Daniel Aletaha; Brian M Feldman; Adeline Vanderver; Paul A Brogan; Raphaela Goldbach-Mansky
Journal: Ann Rheum Dis Date: 2022-01-27 Impact factor: 27.973

Review 3. Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

Authors: Giulia Di Donato; Debora Mariarita d'Angelo; Luciana Breda; Francesco Chiarelli
Journal: Int J Mol Sci Date: 2021-06-14 Impact factor: 5.923

4. HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease.

Authors: Caridad Martinez; Frédéric Ebstein; Sarah K Nicholas; Marietta De Guzman; Lisa R Forbes; Ottavia M Delmonte; Marita Bosticardo; Riccardo Castagnoli; Robert Krance; Luigi D Notarangelo; Elke Krüger; Jordan S Orange; M Cecilia Poli
Journal: Blood Date: 2021-11-11 Impact factor: 25.476

Review 5. KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.

Authors: Takuya Takeichi; Masashi Akiyama
Journal: Front Immunol Date: 2020-04-30 Impact factor: 7.561

6. Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib.

Authors: Shiyu Zhang; Jiaxing Song; Yuyan Yang; Huilei Miao; Lu Yang; Yuehua Liu; Xue Zhang; Yaping Liu; Tao Wang
Journal: Pediatr Rheumatol Online J Date: 2021-01-06 Impact factor: 3.054

PSMB10, the last immunoproteasome gene missing for PRAAS.

Review 1. Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

2. The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.

Review 3. Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

4. HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease.

Review 5. KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.

6. Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib.

Review 7. The Ubiquitin-Proteasome System in Immune Cells.

Review 8. Proteostasis Dysfunction in Aged Mammalian Cells. The Stressful Role of Inflammation.

Review 9. Immunoproteasome Function in Normal and Malignant Hematopoiesis.

Review 10. The Functional and Mechanistic Roles of Immunoproteasome Subunits in Cancer.