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Reposted by Turvey Lab

CHILD Cohort Study @childcohortstudy.bsky.social · 22d

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...

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Turvey Lab @turveylab.bsky.social · Sep 3

We are delighted to have you here!

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Charu Kaushic @ckaushic.bsky.social · Aug 27

‼️ 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

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Turvey Lab @turveylab.bsky.social · Aug 21

Bravo!

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Journal of Experimental Medicine @jem.org · Aug 18

🔬 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...

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CHILD Cohort Study @childcohortstudy.bsky.social · Aug 6

📣 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

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Journal of Experimental Medicine @jem.org · Aug 7

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

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Turvey Lab @turveylab.bsky.social · Aug 4

Thank you Vijay. This one is definitely a blood gene! 🧬🧬🧬

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Turvey Lab @turveylab.bsky.social · Aug 3

You are kind to be so supportive @romberglab.bsky.social !!

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Turvey Lab @turveylab.bsky.social · Aug 3

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.

Rockefeller University Press @rupress.org · Jul 31

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/...

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Rockefeller University Press @rupress.org · Jul 31

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/...

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Turvey Lab @turveylab.bsky.social · Aug 3

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!

Journal of Experimental Medicine @jem.org · Jul 31

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/...

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Waggoner Lab @labwaggoner.bsky.social · Jul 31

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma @jem.org @turveylab.bsky.social
rupress.org/jem/article/...

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Dr Elissa Deenick @elissadeenick.bsky.social · Jul 9

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

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Manish Butte @manishbutte.bsky.social · Jun 21

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

Cell - a Cell Press journal @cp-cell.bsky.social · Jun 20

Now online! Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment

Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment

In lieu of traditional genetic variant testing approaches, an approach using scalable variant classification in primary human T cells with a clinically relevant readout can inform rapid diagnosis and treatment of inborn errors of immunity.

dlvr.it

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CHILD Cohort Study @childcohortstudy.bsky.social · Jun 20

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?

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Charu Kaushic @ckaushic.bsky.social · Jun 11

‼️ 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

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Turvey Lab @turveylab.bsky.social · May 30

Congratulations @romberglab.bsky.social !

Romberg Lab @romberglab.bsky.social · May 30

🚨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.

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Turvey Lab @turveylab.bsky.social · May 29

Proud to serve with this remarkable group!!
🇨🇦

Charu Kaushic @ckaushic.bsky.social · May 28

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!

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Turvey Lab @turveylab.bsky.social · May 27

Proud to add another entry to the list of human inborn errors of immunity.

Journal of Experimental Medicine @jem.org · May 27

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/...

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Charu Kaushic @ckaushic.bsky.social · May 22

🇨🇦 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

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Meghan Azad, PhD @meghanazad.bsky.social · May 22

✨ 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! 🙏🏻🧪

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Romberg Lab @romberglab.bsky.social · May 21

Baller

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Waggoner Lab @labwaggoner.bsky.social · May 21

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

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Turvey Lab @turveylab.bsky.social · May 21

Thank you Jonathan. The IEI field has a rich history of initial descriptions in single patients. A big factor is that we can access the affected organ through simple blood tests.

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