Exciting to see the discovery of relativity common variants (in this case 2% minor allele frq in southern 🇨🇳) of primary immunodeficiencies.
Kids with rare diseases are just the tip of the iceberg 👇🏻
Kids with rare diseases are just the tip of the iceberg 👇🏻
Reposted from
Ivan Zanoni
#InterferonPower! #NotAllIFNsAreEqual! Casanova, Zhang, Al Qureshah &co show @jexpmed.bsky.social that a common (in China) autosomal dominant IFNAR1 variant impairs -not abolishes- IFN-alpha & -omega (not -beta!) responses making patients susceptible to some -not all- viruses doi.org/10.1084/jem....
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