Isabelle Meyts @IsabelleMeyts
Pediatric immunologist UZ Leuven. Lead of Laboratory for Inborn Errors of Immunity, KU Leuven. ESID Past President. All views personal. Joined August 2018-
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Thanks for highlighting our work @LASIDimmuno
1/ 🧬Excited to share that our study entitled Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers led by @IsabelleMeyts, has been published in @JExpMed : hubs.la/Q03FRV7l0
2/ DADA2 is considered an autosomal-recessive inborn error of immunity with a broad clinical phenotype, and diagnosis is based on the combination of decreased serum ADA2 activity and the identification of biallelic deleterious alleles in the ADA2 gene 🧬🧪
3/ DADA2 carriers harbor a single pathogenic variant in ADA2 and are mostly considered healthy and asymptomatic. However, in this study we report ten patients from seven kindreds presenting with a phenotype indicative of DADA2, in whom only a single pathogenic variant was found.
4/ Therefore we investigated the effect of these and additional reported ADA2 missense variants on ADA2 protein expression, secretion and enzymatic activity.
8/ We would like to thank the patients and their families whose trust and participation made this work possible. We are deeply grateful for your support.
9/ We are also very thankful for contributions to this work by collaborators all over the world 🌍@RikSchrijvers, @ArnoutVoet, @ItanLab, @alexbolze and others not on X! Lastly we would like to thank @ERC_Research and @FWOVlaanderen for funding our research on #DADA2.
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers @JExpMed rupress.org/jem/article/22… preview by @BogunovicLab rupress.org/jem/article/22… @IsabelleMeyts 🇧🇪 @marjon_wouters
Insights: @BogunovicLab discusses new study from @IsabelleMeyts group (hubs.la/Q03FRQGh0) that challenges established genetic principles believed to govern DADA2, an inborn error of immunity. hubs.la/Q03FRQfN0 #Autoimmunity #InbornErrorsOfImmunity #Immunodeficiency
Thanks so much for this insightful commentary @BogunovicLab - more work to be done indeed
Thanks so much for this insightful commentary @BogunovicLab - more work to be done indeed
Extremely proud to see this published in @JExpMed. Kudos to Marjon Wouters and thank you @alexbolze @ItanLab @ERC_Research and @FWOVlaanderen. Have a look:
Extremely proud to see this published in @JExpMed. Kudos to Marjon Wouters and thank you @alexbolze @ItanLab @ERC_Research and @FWOVlaanderen. Have a look:
We have Allergy positions open at CHOP. We are looking for people to join a dynamic group with a strong tradition in food allergy and a growing food challenge and oral immunotherapy program. Reach out to Kate Sullivan.
Published today. Our review on Incomplete Penetrance. Four governing principles. Details here. 👇🏼@Columbia @KidsAtColumbia @ColumbiaGenDev rupress.org/jhi/article/1/…
Learn from the "ERC Classes": ✅ How to get started with your ERC application ✅ How to write your ERC proposal ✅ How ERC’s evaluation process works ✅ How to prepare for your interview ✅ How to apply for a Synergy Grant ✅ How to address ethics in your research
PhD position opening in my lab! Grab your chance to dive into the genetics and pathophysiology of inborn errors of immunity and apply! @FWOVlaanderen @ERC_Research @Info4PI @KU_Leuven funded, in an international spirit. kuleuven.be/personeel/jobs…
Latest from us. Universal antiviral made! How? Transient gene therapy. Which genes? Only 10 suffice, out of thousands of antiviral host genes. How did we choose? Got inspired by patients and gene promoters. Read in detail 👇🏼 science.org/doi/abs/10.112…
A human inborn error of immunity guided discovery and development of a prophylactic, mRNA-based antiviral science.org/doi/10.1126/sc… @123456789Dusan
Fantastic study!
Proud to have worked with Dr. Catherine Biggs and @koborlab to add a new human #InbornErrorOfImmunity to the list! @GenomeBC @UBC @CIHR_IRSC @CIHR_IHDCYH @BCCHresearch @_HealthyStarts
Proud to have worked with Dr. Catherine Biggs and @koborlab to add a new human #InbornErrorOfImmunity to the list! @GenomeBC @UBC @CIHR_IRSC @CIHR_IHDCYH @BCCHresearch @_HealthyStarts
New in @JExpMed: 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 hubs.la/Q03zN5pk0

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165 Followers 289 Following PhD @casanova_lab, @InstitutImagine. @AgroParisTech, @UnivParisSaclay & @univ_paris_cite alumni. Auto-antibodies, viruses, innate immunity, IEIs🔬
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829 Followers 4K Following Dr. Pinal-Fernandez is a Staff Clinician at the Muscle Disease Unit of NIAMS/NIH. His research is focused on understanding myositis and autoimmunity.