Turvey Lab
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turveylab.bsky.social
Turvey Lab
@turveylab.bsky.social
Dr. Stuart Turvey and the Turvey lab are committed to improving child health through research. Our research transforms lives. There is urgency to what we do! We are based at UBC and BC Children's Hospital, Vancouver, Canada. 🇨🇦 bcchr.ca/turveylab
📢📢NEW PAPER📢📢
Sequencing has greatly accelerated the number of known human genetic immune disorders--we immunologists call them 'inborn errors of immunity'.
This review in @jem.org is our attempt to summarize all the described single gene defects affecting the IRF family of transcription factors.
Stojcic et al. @turveylab.bsky.social review the biology and clinical features of inborn errors of IRFs, a group of monogenic disorders affecting the IRF family of transcription factors. rupress.org/jem/article/...

#Immunodeficiency #HumanDiseaseGenetics #GenesAndImmunity
November 21, 2025 at 5:51 PM
Reposted by Turvey Lab
Using CHILD breastmilk samples, research led by Kate Donald published in PNAS uncovers a new link between maternal IgA, infant gut microbiota composition, and immune development: childstudy.ca/antibodies-i...
September 16, 2025 at 3:40 PM
Reposted by Turvey Lab
‼️ Notice of upcoming funding opportunity!

Co-led by CIHR-III and CIHR-IIPH, the CIHR Research Excellence, Diversity, and Independence (REDI) Early Career Transition Award (2025) competition will launch in October.

Learn more: cihr-irsc.gc.ca/e/54442.html
August 27, 2025 at 7:36 PM
Reposted by Turvey Lab
🔬 From our August issue: Vaseghi-Shanjani et al. @turveylab.bsky.social (doi.org/10.1084/jem....) report a novel human disease caused by a ThPOK variant. Image shows chest CT of a 3.5 yo patient with diffuse ground glass opacities & subpleural cystic/honeycombing changes. rupress.org/jem/issue/22...
August 18, 2025 at 2:10 PM
Reposted by Turvey Lab
📣 Applications are now OPEN for the CHILD Youth Advisory Council!

Are you a CHILD youth participant? Want to help shape the study and share your voice?

📧 Ask your parents to check their email for the application link!

#CHILDCohortStudy #YouthInResearch #YouthVoices
August 6, 2025 at 9:26 PM
Reposted by Turvey Lab
ASXL1 deficiency causes epigenetic dysfunction, combined #immunodeficiency, and EBV-associated lymphoma, say Maggie Fu, Mehul Sharma, Michael Kobor, Stuart Turvey, Catherine Biggs et al.
rupress.org/jem/article/...
#InbornErrorsOfImmunity
@turveylab.bsky.social
August 7, 2025 at 7:45 PM
This discovery of a new human inborn error of immunity speaks to the power of collaboration.
Not possible without the leadership of Dr. Catherine Biggs, dedication of Maggie Fu, epigenetic expertise of Dr. Michael Kobor, and ultimately the trust of the patient/family.
New in @jem.org: Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy
rupress.org/jem/article/...
August 3, 2025 at 11:18 PM
Reposted by Turvey Lab
New in @jem.org: Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy
rupress.org/jem/article/...
July 31, 2025 at 4:45 PM
Very proud of this new paper describing a novel human immune defect caused by ASXL1 deficiency.
We really had to open the genomics tool box to solve this one, including neat tricks like calculating the epigenetic age.
All led by Dr. Catherine Biggs!
Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy
rupress.org/jem/article/...
August 3, 2025 at 11:14 PM
Reposted by Turvey Lab
ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma @jem.org @turveylab.bsky.social
rupress.org/jem/article/...
July 31, 2025 at 6:23 PM
Reposted by Turvey Lab
The Precision Immunology and Immune Biotherapies Programs at the Garvan Institute are looking for new Faculty members. Come join us and work with amazing scientists in an amazing place @labphan.bsky.social @garvaninstitute.bsky.social
www.nature.com/naturecareer...
Garvan Faculty Member - Sydney (LGA), New South Wales (AU) job with The Garvan Institute | 12841341
The Garvan Institute invites applicants for Faculty-level positions in the Immune Biotherapies and Precision Immunology Programs.
www.nature.com
July 9, 2025 at 11:52 PM
Reposted by Turvey Lab
One the many advances in this incredible paper by Columbia's Milner and Izar labs shows that GOF variants in PIK3CD are not all that rare, including p.M285T that occurs in 1/8000, and is correlated with autoimmune diseases. There are many more APDS patients lurking out there! #IEI #raredisease
June 21, 2025 at 2:47 PM
Reposted by Turvey Lab
The third most abundant ingredient in human milk isn’t digested by babies—it feeds B. infantis, a beneficial microbe linked to healthy development and reduced asthma risk. The CHILD Cohort Study has been tracking it for years, yet only ~20% of Canadian infants carry it. Can we help bring it back?
June 20, 2025 at 7:01 PM
Reposted by Turvey Lab
‼️ REMINDER!

This webinar will highlight innovative #vaccine research in Canada and provide information for applicants about the 2025 Vaccine Leadership Award funding opportunity. 🇨🇦 💉

📅 TOMORROW, June 12, 2025 at 1:00 PM ET

Register: bit.ly/45UdYvV
June 11, 2025 at 6:24 PM
Congratulations @romberglab.bsky.social !
🚨New Paper Alert🚨

Now out in @bloodjournal.bsky.social

We scoured the ends of the earth for rare human PU.1 variants and subjected 134 of them to suite of functional assessments.
May 30, 2025 at 6:58 AM
Proud to serve with this remarkable group!!
🇨🇦
My heartfelt thanks to our dedicated CIHR-III staff, Institute Advisory Board (IAB) members, Community Advisory Committee members, and invited guests and speakers for joining us in the beautiful city of St. John's, Newfoundland and Labrador for our 59th IAB meeting!
May 29, 2025 at 4:52 PM
Proud to add another entry to the list of human inborn errors of immunity.
A multimorphic variant in ThPOK causes #InbornErrorsOfImmunity with T cell defects and #fibrosis, say Maryam Vaseghi-Shanjani, Mehul Sharma, Catherine M. Biggs, Stuart E. Turvey et al. @TurveyLab.bsky.social
rupress.org/jem/article/...
May 27, 2025 at 10:11 PM
Reposted by Turvey Lab
🇨🇦 Now launched! Are you a mid-career investigator working on vaccine-related research? 💉🔬

Apply for the Leadership Award for Excellence in Vaccine Research for Infectious Diseases of Epidemic Potential (2025)!

EOI deadline: July 16

🔗 Learn more: bit.ly/4kpjo60

@cepi.net #NRC
May 22, 2025 at 8:18 PM
Reposted by Turvey Lab
✨ Job Alert: Bioinformatician & Data Manager ✨

Support our research on milk, microbiomes and maternal & infant health!

📍Remote (within Canada) or In-person
💵 $74K–$107K + benefits
⏱️ Full Time
🎓 MSc & 4+ yrs experience req'd
Apply at: umanitoba.ca/careers/ (#38485)

Pls share! 🙏🏻🧪
May 22, 2025 at 9:10 PM
Reposted by Turvey Lab
Baller
May 21, 2025 at 8:14 AM
Reposted by Turvey Lab
A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis @jem.org
rupress.org/jem/article/...
@turveylab.bsky.social
May 21, 2025 at 8:25 PM
Reposted by Turvey Lab
Vaseghi-Shanjani, Sharma, Biggs, Turvey et al. report the first human disease caused by a genetic alteration in ThPOK, establishing ThPOK as essential for human T cell development and the regulation of #fibrosis. rupress.org/jem/article/...

@TurveyLab.bsky.social

#InbornErrorsOfImmunity
May 20, 2025 at 5:30 PM
Reposted by Turvey Lab
In jem.org, Vaseghi-Shanjani, Sharma, Biggs, Turvey et al. report the first human disease caused by a genetic alteration in ThPOK, establishing ThPOK as essential for human T cell development and the regulation of #fibrosis rupress.org/jem/article/...
@TurveyLab.bsky.social
#InbornErrorsOfImmunity
May 20, 2025 at 6:31 PM
📢📢Published today in @jem.org 📢📢
New human inborn error of immunity.

We describe the first reported human with a monogenic disorder caused by the disruption of ZBTB7B, which encodes the transcription factor ThPOK.

rupress.org/jem/article/...

@ubcmedicine.bsky.social @bcchresearch.bsky.social
May 20, 2025 at 4:43 PM
📢📢Published today in @jem.org 📢📢
New human inborn error of immunity.

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis url:https://rupress.org/jem/article/222/8/e20241174/277954/A-multimorphic-variant-in-ThPOK-causes-an-inborn
May 20, 2025 at 4:35 PM