Turvey Lab

@romberglab.bsky.social!!

What can dirty diapers tell us about #asthma?
Clues from the gut #microbiome are reshaping how we understand pediatric asthma and allergies!
Breastfeeding, B. infantis, and early microbial exposures matter. 2025 @washumedicine.bsky.social Pediatric
Research Retreat #Keynote by Stuart Turvey

B.C. man cured of rare disease in world-first for new gene-editing technology - Canada News Beep Ty Sperle says he felt “insane shock” after learning he’d been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.

B.C. man cured of rare disease in world-first for new gene-editing technology

https://www.newsbeep.com/ca/500965/

Ty Sperle says he felt “insane shock” after learning he’d been cured of a rare genetic disease through…

This is BRILLIANT!!
B.C. teen becomes first in the world cured of rare disease using gene editing 🙏

18-year-old Ty Sperle from UBC Okanagan was Participant 1 in the trial. He had chronic granulomatous disease since age 5 and is now completely cured after the gene edit fixed his immune cells.

B.C. man cured of rare disease in world-first for new gene-editing technology Ty Sperle says he felt “insane shock” after learning he’d been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.

B.C. man cured of rare disease in world-first for new gene-editing technology - Ty Sperle says he felt “insane shock” after learning he’d been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.

Ultimate precision medicine!

Delighted to have played a small part to ensure our patient from @bcchresearch.bsky.social was able to receive this remarkable curative treatment.

Kudos to Dr. Elie Haddad for launching this trial in Canada.

@nejm.org @genomecanada.ca @genomebc.bsky.social

B.C. man cured of rare disease in world-first for new gene-editing technology Ty Sperle says he felt "insane shock" after learning he'd been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.

Ty Sperle says he felt "insane shock" after learning he'd been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.

Ultimate precision medicine!

Delighted to have played a small part to ensure our patient from @bcchresearch.bsky.social was able to receive this remarkable curative treatment.

Kudos to Dr. Elie Haddad for launching this trial in Canada.

@nejm.org @genomecanada.ca @genomebc.bsky.social

Ultimate precision medicine!

Delighted to have played a small part to ensure our patient from @bcchresearch.bsky.social was able to receive this remarkable curative treatment.

Kudos to Dr. Elie Haddad for launching this trial in Canada.

@nejm.org @genomecanada.ca @genomebc.bsky.social

#5 Kanegane et al review unresolved issues in the pathogenesis of X-linked agammaglobulinemia (XLA), incl. non-coding BTK variants, contiguous deletion syndrome, Helicobacter infection, non-infectious neurodegeneration, renal involvement & malignancies: rupress.org/jhi/article/...

#4 Type I IFN autoantibodies (auto-Abs) are associated w/ severe #COVID19. Peduti et al. reveal a 6.7% prevalence of auto-Abs in critically ill Brazilian patients, predominantly affecting older individuals, and links their presence to worse clinical outcomes: rupress.org/jhi/article/...

#3 30-year @esidsociety.bsky.social registry analysis of 30,628 patients' longitudinal datasets show results of robust epidemiological studies on natural courses including diagnosis, treatment, and survival, supporting newborn screening and future AI applications in IEI: rupress.org/jhi/article/...

#2 Bousfiha et al. present a decision tree-based diagnostic guide to human #InbornErrorsOfImmunity for physicians based on the 2024 update of the @iuis-online.bsky.social expert committee: rupress.org/jhi/article/...

#1: Poli et al. present the 2024 update of the @iuis-online.bsky.social classification of human #InbornErrorsOfImmunity including 67 novel monogenic defects and 2 new phenocopies. rupress.org/jhi/article/...

As 2025 wraps up, we're proud to celebrate the inaugural year of the Journal of Human Immunity (JHI)! 🎉 Here are our 5 most-read articles so far 👇🧬

Freeman, Thielen @thie0149.bsky.social and Pozos provide practical advice on prevention, diagnosis, and management of infections in #InbornErrorsOfImmunity as well as management of common complications such as bronchiectasis. rupress.org/jhi/article/...

#HowITreat
@clinimmsoc.bsky.social

Prime Editing for p47phox-Deficient Chronic Granulomatous Disease | NEJM Chronic granulomatous disease (CGD) is a severe monogenic immunodeficiency caused by damaging variants in genes required for microbicidal NADPH oxidase activity. Autosomal recessive p47phox-deficie...

Prime Editing for p47phox-Deficient Chronic Granulomatous Disease - nouvelle publication dans New England Journal of Medicine par Dr Elie Haddad et coll.
www.nejm.org/doi/full/10....

👏👏👏This is really a remarkable breakthrough in treating patients with chronic granulomatous disease👏👏👏

Proud to have played a very small part in this medical miracle.

@bcchresearch.bsky.social @nejm.org @bcchf.bsky.social @ubcmedicine.bsky.social

1/ A year ago, a 71-year-old Louisiana man died from H5N1, marking the first avian flu death in the US. Now we report in @jem.org that the cause of his death is rogue autoantibodies neutralizing type I IFN (AutoAb-IFN). doi.org/10.1084/jem....

Monogenic disorders of the IRF transcription factors. New review from Mattison Stojcic, Pariya Yousefi, Catherine Biggs, and Stuart Turvey @turveylab.bsky.social: rupress.org/jem/article/...

#Immunodeficiency #HumanDiseaseGenetics #GenesAndImmunity #InbornErrorsOfImmunity

Thanks for sharing @labwaggoner.bsky.social!

📢📢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.

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...

We are delighted to have you here!

‼️ 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

Bravo!

🔬 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...

📣 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

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

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