Journal of Human Immunity
@jhumimmunity.org did:plc:paswai733eyalevzoipj7t7z
Journal of Human Immunity (JHI) is the official open access journal of the International Alliance for Primary Immunodeficiency Societies (IAPIDS). Published by @rupress.org 🌐 jhumimmunity.org
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Journal of Human Immunity (@jhumimmunity.org) ist seit 14 Januar 2025 auf Bluesky. Das Konto hat 464 Follower, folgt 152 Konten und hat 535 Posts veröffentlicht.
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As for #WNV encephalitis, severe infection by the closely related #USUV #Usutu virus is explained by IFN-I-neutralizing auto-Abs in ~half of the cases
Post anzeigenIn the 5 years since we first reported TLR8 GOF we have learned -it is X-linked DOMINANT -mosaic or germline variants with AA 432, an antagonist binding site, most commonly affected -patients can be very sick, early recognition by deep sequencing and get them to HCT -emerging spectrum of severity
Post anzeigenOur new IRF4 paper follows all 10 known patients with the p.T95R variant: profound combined immunodeficiency, severe infections, and progressive lung disease. HSCT can be curative, but timing matters. Thanks to our international team and the families.
Post anzeigenA pleasure to work with Ofer Zimmerman & @washumedicine.bsky.social heme to make the diagnosis in this adult woman who had symptoms for two decades. TLR8 GOF is X linked DOMINANT -males & females. Our original cohorts were younger (I’m a pediatrician!) there are more older adults out there
Post anzeigenWe all know recurrent infections is a hallmark of many primary immunodeficiencies, but what really is "recurrent"? In the electronic health record, recurrence is far from obvious. Aaron figured out a way to tease recurrence from the data. The impact is finding immune deficiency patients sooner. #IEI
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