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Papendorf, Jonas Johannes; Ebstein, Frédéric; Alehashemi, Sara; Piotto, Daniela Gerent Petry; Kozlova, Anna; Terreri, Maria Teresa; Shcherbina, Anna; Rastegar, Andre; Rodrigues, Marta; Pereira, Renan; Park, Sophia; Lin, Bin; Uss, Kat; Möller, Sophie; da Silva Pina, Ana Flávia; Sztajnbok, Flavio; Torreggiani, Sofia; Niemela, Julie; Stoddard, Jennifer; Rosenzweig, Sergio D.; Oler, Andrew J.; McNinch, Colton; de Guzman, Marietta M.; Fonseca, Adriana; Micheloni, Nicole; Fraga, Melissa Mariti; Perazzio, Sandro Félix; Goldbach-Mansky, Raphaela; de Jesus, Adriana A.; Krüger, Elke
Frontiers in immunology, 08/2023, Letnik: 14Journal Article
Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or proteasome-associated autoinflammatory syndrome (PRAAS). Patients with CANDLE/PRAAS present with mostly chronically elevated type I interferon scores that emerge as a consequence of increased proteotoxic stress by mechanisms that are not fully understood. Here, we report on five unrelated patients with CANDLE/PRAAS carrying novel inherited proteasome missense and/or nonsense variants. Four patients were compound heterozygous for novel pathogenic variants in the known CANDLE/PRAAS associated genes, PSMB8 and PSMB10 , whereas one patient showed additive loss-of-function mutations in PSMB8 . Variants in two previously not associated proteasome genes, PSMA5 and PSMC5 , were found in a patient who also carried the PSMB8 founder mutation, p.T75M. All newly identified mutations substantially impact the steady-state expression of the affected proteasome subunits and/or their incorporation into mature 26S proteasomes. Our observations expand the spectrum of PRAAS-associated genetic variants and improve a molecular diagnosis and genetic counseling of patients with sterile autoinflammation.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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