Learn how the early life #microbiome shapes immune programming in childhood #asthma and #allergies in this review from Stuart Turvey and colleagues mucosalimmunology.org/article/S193...

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/...

Instead of studying asthma only after children get sick, Dr. Stuart Turvey and his team at UBC have taken a different approach. 💩 By analyzing infant stool samples, researchers found differences in gut bacteria that were associated with later development of #asthma: https://bit.ly/4rqPbHa

@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 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.

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

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 - 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...

‼️ 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

🔬 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

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/...

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!

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

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...

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

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?

‼️ 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

Congratulations @romberglab.bsky.social !

Proud to serve with this remarkable group!! 🇨🇦

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

🇨🇦 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

✨ 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! 🙏🏻🧪

Baller

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

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

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

📢📢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

📢📢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