#InbornErrors
LightNews LightNews
castltrastondrs.medsky.network
#Medsky🧪 #immunology #Inbornerrors of immunity (IEI) to M.tb infection can underlie to TB in human @casanovalab.bsky.social et al. identified a rare autosomal recessive complete deficiency in the lymphocytic surface receptor LY9 that was a previously unknown IEI in 3 unrelated individuals with TB .
June 4, 2025 at 9:09 PM
jimd-editors.bsky.social
🧬 Inherited Metabolic Disorder? The eyes have it! 👀

Fab paper on IMD and the eyes

Looking to know more about what happens when Dr Glaucomflecken has to stop ignoring the Clinical Geneticist in the corner? Read on 👉 doi.org/10.1177/2515...

#eyes #ophthalmology #inbornerrors
November 11, 2024 at 11:56 AM
castltrastondrs.medsky.network
& Functional overlap of #inbornerrors of #immunity and metabolism genes defines T cell metabolic vulnerabilities & and enable the development of targeted therapies for immune-mediated disorders
www.science.org/doi/10.1126/...
Functional overlap of inborn errors of immunity and metabolism genes defines T cell metabolic vulnerabilities
The functional overlap of genes that cause inborn errors of metabolism and immunity reveals T cell metabolic regulators.
www.science.org
August 17, 2024 at 9:02 AM
theebmt.bsky.social
📣 Join the next Inborn Errors Working Party Live Forum Session on IEI 📣

🗓️ Tuesday 1 September
⏰ 16:00–17:00 CEST

➡️Register now: ebmt.webex.com/webappng/sit...

#HCT #PatientCare #ClinicalCase #InbornErrors
August 25, 2026 at 1:35 PM
theebmt.bsky.social
📅 Join the next Inborn Errors WP Live Forum Session on 4 August!

Take part in interactive discussions on challenging IEI cases and hear perspectives on HCT decision-making. 🖥️ Register today: https://www.ebmt.org/inborn-errors-working-party-live-forum-sessions-iei

#HCT #CellTherapy #InbornErrors
July 28, 2026 at 9:00 AM
theebmt.bsky.social
Joint the IEWP Live Forum Session on IEI:

📅 4 August 2026
🕓 16:00–17:00 CEST

Register now: https://ebmt.webex.com/webappng/sites/ebmt/webinar/webinarSeries/register/7f26162f26af4c42a1810a889108dfcc

#HCT #PatientCare #ClinicalCase #InbornErrors
July 22, 2026 at 7:57 AM
theebmt.bsky.social
🧬 Managing a complex case of an inborn error of immunity?

Submit your work to the next IEWP Live Forum and join expert-led discussions on HCT indication, timing, donor selection and more. ➡️ https://www.ebmt.org/inborn-errors-working-party-live-forum-sessions-iei

#HCT #PatientCare #InbornErrors
July 16, 2026 at 12:20 PM
mymedschool.bsky.social
Summary of metabolic pathways biochemistry
#NEETPG2026 #INICET #NEXTExam #HighYieldReview #Biochemistry #Metabolism #Glycolysis #TCACycle #UreaCycle #HMPShunt #Gluconeogenesis #InbornErrors #Vitamins #EnzymeRegulation #Thiamine #VitaminB12 #InbornErrorsOfMetabolism #G6PD #VonGierke #Galactosemia
Summary of Metabolic Pathways: High-Yield Chart for NEET PG & USMLE
Metabolic pathways form the foundational network of medical biochemistry. Review this integrated master roadmap tracing carbohydrate, lipid, and protein crossroads, highlighted with irreversible regulatory check-points and essential vitamin cofactors ($Latex B_1$, $Latex B_{12}$, Biotin).
mymedschool.org
June 5, 2026 at 11:50 PM
mymedschool.bsky.social
NEET PG 2026 biochemistry high yield topics and clinical correlations roadmap

#NEETPG2026 #INICET #NEXTExam #HighYieldReview #Biochemistry #Metabolism #Enzymology #Genetics #Vitamins #BlottingTechniques #PCR #InbornErrors #TCAcycle #UreaCycle #GlycogenStorage #ActiveRecall #ClinicalIntegration #Med
Mastering Biochemistry for NEET PG 2026: The Ultimate High-Yield Roadmap
Biochemistry is one of the most reliable scoring pillars for the NEET PG 2026 exam cycle. Shift from rote memorization to clinical integration with this high-yield strategic roadmap covering essential metabolic pathways, enzyme kinetics, and genetics.
mymedschool.org
June 1, 2026 at 10:55 PM
theebmt.bsky.social
⌛️ New deadline: Case submission and grant applications for the IEWP Annual Conference have been extended until 📆 29 June.

📣 Share your research and join the Inborn Errors WP in 📍 Zurich in September: ebmt.org/events/inbor...

#HCT #CellTherapy #InbornErrors #GeneTherapy
June 10, 2026 at 11:36 AM
theebmt.bsky.social
⌛️ Case submission and grant application period for the IEWP Annual Conference is open until 8 June.

💡 Learn more and share your research before it's too late: ebmt.org/events/inbor...

#HCT #CellTherapy #InbornErrors #GeneTherapy
May 18, 2026 at 11:49 AM
theebmt.bsky.social
📰 The cases of the first IEWP Live Forum have been selected. Join the #InbornErrors Working Party on:
🗓️ 28 April | 16:00-17:00 CEST
for a new online session dedicated to the complex decision-making involved in #HCT for patients with inborn errors of immunity.

🌐 Learn more: ebmt.org/inborn-error...
April 23, 2026 at 10:09 AM
theebmt.bsky.social
📢 Join the first monthly Inborn Errors of Immunity session on 📆Tuesday 28 April ➡️ ebmt.webex.com/webappng/sit...

💡 Expect shared learning, collaboration across centres, expert opinion and practical insight to improve patient care and advance the field.

#InbornErrors #PatientCare #HCT #CellTherapy
April 10, 2026 at 12:50 PM
elsevierlsj.bsky.social
Interested in personalized genomic therapies? Join our webinar with Dr. Ahrens-Nicklas on July 30, 12 PM EST. Register today! spkl.io/63328AEmMr

#GenomicMedicine #InbornErrors
Explore the future of personalized medicine for inborn errors of metabolism. Join us on July 30 for expert insights!
July 29, 2025 at 11:00 AM
elsevierlsj.bsky.social
Join us on July 30 for a webinar on cutting-edge gene editing therapies for metabolic disorders. Dr. Rebecca Ahrens-Nicklas will share exciting advances from research to clinical trials. Register here: spkl.io/63325AEm6W

#InbornErrors #GeneticMedicine
Explore the future of personalized medicine for inborn errors of metabolism. Join us on July 30 for expert insights!
July 16, 2025 at 11:00 AM