Turvey Lab

turveylab.bsky.social

14 October 2026 13:08

Our 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.

Megan Cooper

macattacklab.bsky.social

25 September 2026 13:26

A 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

Manish Butte

manishbutte.bsky.social

01 September 2026 13:28

We 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

Turvey Lab

turveylab.bsky.social

24 August 2026 13:13

Thank you, Anne, Jean-Laurent, and Vivien, for this wonderful News & Views, and congratulations to Trine Mogensen and colleagues on their complementary study. It's exciting to see independent discoveries establish OSMRβ deficiency as a new inborn error of immunity. @casanovalab.bsky.social

Department of Biomedicine🔬🧪

biomedizin.unibas.ch

11 August 2026 13:37

A patient's search for answers led to the discovery of a new type of immune disorder Researchers identified a mosaic mutation affecting only a specific subgroup of immune cells, opening new possibilities for precision diagnosis and targeted treatment for patients with unexplained immune disorders.