PSMB10, the last immunoproteasome gene missing for PRAAS

Guillaume Sarrabay (1, 2) , Deborah Mechin (1, 2) , Aicha Salhi (3) , Guilaine Boursier (1, 2) , Cécile Rittore (2, 1) , Yanick Crow (4) , Gillian Rice (5) , Tu-Anh Tran (1, 6) , Renaud Cezar (1, 6) , Darragh Duffy (7) , Vincent Bondet (7) , Lakhdar Boudhane (8) , Chistophe Broca (1) , Benjamin Kant (9) , Mariëlle Vangijn (9) , Sylvie Grandemange (2, 1) , Eric Richard (10) , Florence Apparailly (1, 11) , Isabelle Touitou (1, 2)

1 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
2 LGMR - Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques
3 Faculté de médecine d'Alger
4 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
5 University of Manchester [Manchester]
6 CHU Nîmes - Centre Hospitalier Universitaire de Nîmes
7 Immunobiologie des Cellules dendritiques
8 Pédiatre
9 University Medical Center [Utrecht]
10 IRCM - U1194 Inserm - UM - Institut de Recherche en Cancérologie de Montpellier
11 CHU - Hôpital Lapeyronie [Montpellier]

We describe a patient exhibiting clinical features of PRAAS due to a homozygous mutation in PSMB10. This gene encodes the only immunoproteasome subunit in which mutations have not yet been associated with PRAAS.

Keywords: CANDLE; JMP; Nakajo-Nishimura syndrome; immunoproteasome; SAID; PSMB10; interferonopathy; PRAAS; proteasome

Domains: Life Sciences [q-bio]; Immunology

Guillaume Sarrabay, Deborah Mechin, Aicha Salhi, Guilaine Boursier, Cécile Rittore, et al.. PSMB10, the last immunoproteasome gene missing for PRAAS. 2019. ⟨pasteur-02396614⟩