PSMB10, the last immunoproteasome gene missing for PRAAS

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

doi:10.1016/j.jaci.2019.11.024

PSMB10, the last immunoproteasome gene missing for PRAAS

J Allergy Clin Immunol. 2020 Mar;145(3):1015-1017.e6. doi: 10.1016/j.jaci.2019.11.024. Epub 2019 Nov 26.

Authors

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

Affiliations

¹ IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France; Department of Medical Genetics, Rare Diseases and Personalized Medicine, Rare and Autoinflammatory Diseases Unit, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: guillaume.sarrabay@inserm.fr.
² IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France; Department of Medical Genetics, Rare Diseases and Personalized Medicine, Rare and Autoinflammatory Diseases Unit, CHU Montpellier, Univ Montpellier, Montpellier, France.
³ Dermatology Department, Alger Medicine University, Alger, Algeria.
⁴ Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Institut Imagine, Paris, France.
⁵ Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom.
⁶ IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France; Immunology Department, CHU Nîmes, Univ Montpellier, Nîmes, France; Paediatrics Department, University Hospital Nîmes, Nîmes, France.
⁷ IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France; Immunology Department, CHU Nîmes, Univ Montpellier, Nîmes, France.
⁸ ICD Unit, Inserm U1223, Institut Pasteur, Paris, France.
⁹ Private Paediatrician Practice, Bougaa, Algeria.
¹⁰ IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.
¹¹ Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
¹² Institut de Recherche en Cancérologie de Montpellier, INSERM U1194, Univ Montpellier, Institut régional du Cancer de Montpellier, Montpellier, France.
¹³ IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France; Clinical Department for Osteoarticular Diseases and Biotherapy, University Hospital Lapeyronie, Montpellier, France.

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

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Autoimmune Diseases / genetics*
Child, Preschool
Female
Humans
Mutation
Proteasome Endopeptidase Complex / genetics*

Substances

PSMB10 protein, human
Proteasome Endopeptidase Complex