Article

Neonatal-onset autoinflammation and immunodeficiency caused by heterozygous missense mutation of the proteasome subunit β-type 9

2021-02-02

Abstract excerpt

<h4>ABSTRACT</h4> <h4>BACKGROUND</h4> Defective proteasome activities due to genetic mutations lead to an autoinflammatory disease, termed as proteasome-associated autoinflammatory syndromes (PRAAS). In PRAAS relapsing inflammations and progressive wasting are common, but immunodeficiency has not been reported. <h4>METHODS</h4> We studied two unrelated Japanese infants with PRAAS-like manifestations. We have also...

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Literature Corpus work: 8894229a-a76c-54e4-867c-d12c3cfaa7d6
DOI: 10.1101/2021.02.01.21250077

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