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Author Jack Bleesing

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A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice.

Erica G Schmitt, Kelsey A Toth, Samuel I Risma, Ana Kolicheski, Nermina Saucier, Rafael J Feliciano BerrĂ­os, Zev J Greenberg, Jennifer W Leiding, Jack J Bleesing, Akaluck Thatayatikom, Laura G Schuettpelz, John R Edwards, Tiphanie P Vogel, Megan A Cooper,

Primary immune regulatory disorders (PIRD) are a group of disorders characterized by immune dysregulation, presenting with a wide range of clinical disease including autoimmunity, autoinflammation, or lymphoproliferation. Autosomal dominant germline gain-of-function (GOF) variants in STAT3 result in a PIRD with a broad clinical spectrum. Studies in patients have documented a ... Read more >>

JCI Insight (JCI insight)
[2022, :e162695]

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Gain-of-function defects in toll-like receptor 8 shed light on the interface between immune system and bone marrow failure disorders.

Jack Bleesing,

In this article, we will share lessons that patients with gain-of-function defects in Toll-like receptor 8 (TLR8-GOF) can teach us about the interface between bone marrow failure (BMF) disorders and inborn errors of immunity (IEI), subsequently referred to as "Interface Disorders". TLR8-GOF is a relatively young entity (from a discovery ... Read more >>

Front Immunol (Frontiers in immunology)
[2022, 13:935321]

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