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Joel Mokyr, Philippe Aghion and Pewter Howitt share economics prize for work that underlines the importance of investing in research and development. go.nature.com/42G7ZZn
Nobel Prizes This Year Offer Three Cheers for Slow Science nytimes.com/2025/10/09/sci… via @NYTimes. Slow science - curiosity driven research - for the ultimate benefit of humanity
It’s International #PlasmaAwarenessWeek! 💙 Plasma is powerful. From saving the lives of PI patients to treating neurological and autoimmune conditions, plasma-derived therapies are essential. Yet, less than 5% of eligible people donate plasma—and patients need thousands of…
Wonderful collaborative study! Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients rupress.org/jhi/article/1/…
Tahereh Noori, Aaqib Zaffar Banday, Ilia Voskoboinik et al use recently developed technology to define the function of a previously uncharacterized STX11 mutation L135P in a patient w/ atypical familial hemophagocytic lymphohistiocytosis hubs.la/Q03MyJql0 @PeterMacCC
👏👏👏Thrilled to hear about 2025 Novel price for contributions in understanding how our marvelous immune system prevents autoimmunity. Importantly, inborn errors of immunity have been a key piece in solving this puzzle.
Our immune system is an evolutionary masterpiece. Every day it protects us from the thousands of different viruses, bacteria and other microbes that attempt to invade our bodies. Without a functioning immune system, we would not survive. One of the immune system’s marvels is its…
Our immune system is an evolutionary masterpiece. Every day it protects us from the thousands of different viruses, bacteria and other microbes that attempt to invade our bodies. Without a functioning immune system, we would not survive. One of the immune system’s marvels is its…
The 2025 medicine laureates identified the immune system’s security guards, regulatory T cells, which prevent immune cells from attacking our own body. The fundamental knowledge that researchers have gained through the discovery of regulatory T cells and their importance for…
Thank you so much and congratulations again @casanova_lab - it was a wonderful and inspiring day.
1/ We are celebrating the Novo Nordisk Prize Symposium: Inborn Errors of Immunity – a huge success yesterday at the @InstitutImagine in Paris featuring talks by 19 leading European researchers on human IEI
Our colleagues reminded us about DADA-2 at the wonderfully organized NICER consortium meeting last week! What have we learnt in the last 10 years? Drs. Ehlers and Meyts elegantly described it all here! sciencedirect.com/science/articl…
#SCID is a rare genetic disorder where babies are born without a working immune system. Without #NewbornScreening, most infants appear healthy at birth - but infections quickly become life-threatening within the first year of life. That’s why newborn screening is critical. A…
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
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