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Literature DB >> 34019630

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

Caridad Martinez¹, Frédéric Ebstein², Sarah K Nicholas^1,3, Marietta De Guzman^1,3, Lisa R Forbes^1,3, Ottavia M Delmonte⁴, Marita Bosticardo⁴, Riccardo Castagnoli⁴, Robert Krance¹, Luigi D Notarangelo⁴, Elke Krüger², Jordan S Orange⁵, M Cecilia Poli^1,3,6.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2021 PMID： 34019630 PMCID： PMC8586965 DOI： 10.1182/blood.2021011005

Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 25.476

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22 in total

1. An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.

Authors: André Mégarbané; Agnès Sanders; Eliane Chouery; Valérie Delague; Myrna Medlej-Hashim; Paul-Henri Torbey
Journal: J Rheumatol Date: 2002-05 Impact factor: 4.666

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

Authors: Anja Brehm; Yin Liu; Afzal Sheikh; Bernadette Marrero; Ebun Omoyinmi; Qing Zhou; Gina Montealegre; Angelique Biancotto; Adam Reinhardt; Adriana Almeida de Jesus; Martin Pelletier; Wanxia L Tsai; Elaine F Remmers; Lela Kardava; Suvimol Hill; Hanna Kim; Helen J Lachmann; Andre Megarbane; Jae Jin Chae; Jilian Brady; Rhina D Castillo; Diane Brown; Angel Vera Casano; Ling Gao; Dawn Chapelle; Yan Huang; Deborah Stone; Yongqing Chen; Franziska Sotzny; Chyi-Chia Richard Lee; Daniel L Kastner; Antonio Torrelo; Abraham Zlotogorski; Susan Moir; Massimo Gadina; Phil McCoy; Robert Wesley; Kristina I Rother; Peter W Hildebrand; Paul Brogan; Elke Krüger; Ivona Aksentijevich; Raphaela Goldbach-Mansky
Journal: J Clin Invest Date: 2016-02-01 Impact factor: 14.808

3. IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response.

Authors: Sylvia Heink; Daniela Ludwig; Peter-M Kloetzel; Elke Krüger
Journal: Proc Natl Acad Sci U S A Date: 2005-06-08 Impact factor: 11.205

Review 4. The immunoproteasome and thymoproteasome: functions, evolution and human disease.

Authors: Shigeo Murata; Yousuke Takahama; Masanori Kasahara; Keiji Tanaka
Journal: Nat Immunol Date: 2018-08-13 Impact factor: 25.606

5. Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients.

Authors: Hanna Kim; Kristina M Brooks; Cheng Cai Tang; Paul Wakim; Mary Blake; Stephen R Brooks; Gina A Montealegre Sanchez; Adriana A de Jesus; Yan Huang; Wanxia Li Tsai; Massimo Gadina; Apurva Prakash; Jonathan Marcus Janes; Xin Zhang; William L Macias; Parag Kumar; Raphaela Goldbach-Mansky
Journal: Clin Pharmacol Ther Date: 2017-12-08 Impact factor: 6.875

6. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

Authors: Anil K Agarwal; Chao Xing; George N DeMartino; Dario Mizrachi; Maria Dolores Hernandez; Ana Berta Sousa; Laura Martínez de Villarreal; Heloísa G dos Santos; Abhimanyu Garg
Journal: Am J Hum Genet Date: 2010-12-10 Impact factor: 11.025

7. PSMB10, the last immunoproteasome gene missing for PRAAS.

Authors: Guillaume Sarrabay; Déborah Méchin; Aicha Salhi; Guilaine Boursier; Cécile Rittore; Yanick Crow; Gillian Rice; Tu-Anh Tran; Renaud Cezar; Darragh Duffy; Vincent Bondet; Lakhdar Boudhane; Christophe Broca; Benjamin P Kant; Mariëlle VanGijn; Sylvie Grandemange; Eric Richard; Florence Apparailly; Isabelle Touitou
Journal: J Allergy Clin Immunol Date: 2019-11-26 Impact factor: 10.793

Review 8. New monogenic autoinflammatory diseases--a clinical overview.

Authors: Scott W Canna; Raphaela Goldbach-Mansky
Journal: Semin Immunopathol Date: 2015-05-12 Impact factor: 9.623

9. Restricted Expression of the Thymoproteasome Is Required for Thymic Selection and Peripheral Homeostasis of CD8⁺ T Cells.

Authors: Utano Tomaru; Saori Konno; Syota Miyajima; Rikuto Kimoto; Mari Onodera; Shizuka Kiuchi; Shigeo Murata; Akihiro Ishizu; Masanori Kasahara
Journal: Cell Rep Date: 2019-01-15 Impact factor: 9.423

10. JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.

Authors: Gina A Montealegre Sanchez; Adam Reinhardt; Suzanne Ramsey; Helmut Wittkowski; Philip J Hashkes; Yackov Berkun; Susanne Schalm; Sara Murias; Jason A Dare; Diane Brown; Deborah L Stone; Ling Gao; Thomas Klausmeier; Dirk Foell; Adriana A de Jesus; Dawn C Chapelle; Hanna Kim; Samantha Dill; Robert A Colbert; Laura Failla; Bahar Kost; Michelle O'Brien; James C Reynolds; Les R Folio; Katherine R Calvo; Scott M Paul; Nargues Weir; Alessandra Brofferio; Ariane Soldatos; Angelique Biancotto; Edward W Cowen; John J Digiovanna; Massimo Gadina; Andrew J Lipton; Colleen Hadigan; Steven M Holland; Joseph Fontana; Ahmad S Alawad; Rebecca J Brown; Kristina I Rother; Theo Heller; Kristina M Brooks; Parag Kumar; Stephen R Brooks; Meryl Waldman; Harsharan K Singh; Volker Nickeleit; Maria Silk; Apurva Prakash; Jonathan M Janes; Seza Ozen; Paul G Wakim; Paul A Brogan; William L Macias; Raphaela Goldbach-Mansky
Journal: J Clin Invest Date: 2018-06-11 Impact factor: 14.808

3 in total