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Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients | Journal of Human Immunity | Rockefeller University Press

Casanova Lab @casanovalab.bsky.social · 1d

Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients url: rupress.org/jhi/article/...

This epidemiological study describes CGD in Latin America. It highlights high infection risks, limited treatment options, and poor survival rates, especial

Cartilage-hair hypoplasia: A comprehensive review | Journal of Human Immunity | Rockefeller University Press

Reposted by Casanova Lab

Journal of Human Immunity @jhumimmunity.org · 5d

Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis. A report by Dalia Abd Elaziz, Alperen Baran, Aysima Atilgan Lulecioglu, Hanaa El-Karaksy, @casanovalab.bsky.social, Serkan Belkaya, Emmanuelle Jouanguy et al.
rupress.org/jhi/article/...
#InbornErrorsOfImmunity

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Casanova Lab @casanovalab.bsky.social · 5d

Everything you always wanted to know about Cartilage-hair hypoplasia but never dared asking:

Cartilage-hair hypoplasia: A comprehensive review url: rupress.org/jhi/article/...

This comprehensive review of cartilage-hair hypoplasia (CHH) by Vakkilainen summarizes 60 years of CHH research, covering genetic aspects, pathogenesis, cl

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency | Journal of Human Immunity | Rockefeller University Press

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Casanova Lab @casanovalab.bsky.social · 5d

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency url: rupress.org/jhi/article/...

Human OTULIN haploinsufficiency causes life-threatening staphylococcal disease, but the genotypic and phenotypic spectrum of the disorder remains largely u

Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans - PubMed

Casanova Lab @casanovalab.bsky.social · 9d

6/ When not teaching or at the bench, @ariasaas.bsky.social enjoys hiking, gardening, and spending time with his family. He says: “Nature and loved ones remind me why curiosity and patience matter in science and in life.”

Casanova Lab @casanovalab.bsky.social · 9d

5/ @ariasaas.bsky.social said “Teaching allows me to share this passion with students while continuing to explore new developments in immunology and molecular biology.” Happily, he also continues to actively collaborate with us!
pubmed.ncbi.nlm.nih.gov/39008214/
pubmed.ncbi.nlm.nih.gov/40446017/

We report eleven Colombian patients diagnosed with cryptococcosis who had auto-Abs that neutralize GM-CSF. Among these patients, ten were infected with C. gattii and only one with C. neoformans.

pubmed.ncbi.nlm.nih.gov

Casanova Lab @casanovalab.bsky.social · 9d

4/ Currently, @ariasaas.bsky.social teaches molecular biology, clinical biochemistry, and immunology to under- and post-graduate students in the School of Microbiology at the University of Antioquia. He also trains postgraduate students in the field of inborn errors of immunity

Casanova Lab @casanovalab.bsky.social · 9d

3/ @ariasaas.bsky.social said his experience at @casanovalab.bsky.social has been “pivotal in shaping my scientific perspective, providing invaluable opportunities to contribute to cutting-edge research in human immunogenetics and inborn errors of immunity.”

Tuberculosis in otherwise healthy adults with inherited TNF deficiency - Nature

Casanova Lab @casanovalab.bsky.social · 9d

2/ @ariasaas.bsky.social‘s 1st-author paper in @nature.com on TB in otherwise healthy adults with inherited TNF deficiency came out of his postdoc at @casanovalab.bsky.social and was enthusiastically received back home in Columbia
www.nature.com/articles/s41...

www.udea.edu.co/wps/portal/u...

Human TNF is required for respiratory-burst-dependent immunity to Mycobacterium tuberculosis in macrophages but seems to be largely redundant physiologically.

www.nature.com

Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model | Journal of Human Immunity | Rockefeller University Press

Casanova Lab @casanovalab.bsky.social · 9d

1/ This week we spotlight @ariasaas.bsky.social, a postdoc and visiting prof in our New York Branch from 2020 – 2022 and now a full professor at University of Antioquia, Medellín, Colombia. During his training, he worked in our mycobacterium research team on the human genetic causes of TB

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Casanova Lab @casanovalab.bsky.social · 9d

The question is not IF but WHEN:

Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model url: rupress.org/jhi/article/...

This Perspective proposes universal genomic screening as a life-course strategy, using Mendelian susceptibility to mycobacterial disease as a model to demo

Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis | Journal of Human Immunity | Rockefeller University Press

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Casanova Lab @casanovalab.bsky.social · 9d

Fulminant viral hepatitis is less and less "idiopathic":

Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis url: rupress.org/jhi/article/...

A previous report described an inherited deficiency of IL-18BP, a soluble antagonist of IL-18, in an Algerian patient who died of fulminant viral hepatitis

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Casanova Lab @casanovalab.bsky.social · 12d

Thanks Jonathan !!

Casanova Lab @casanovalab.bsky.social · 12d

Thanks so much Ben !!

Casanova Lab @casanovalab.bsky.social · 13d

8/ We especially thank our host - @institutimagine.bsky.social - & the following institutions for making the Novo Nordisk Prize Symposium: Inborn Errors of Immunity possible: @novo-nordisk.bsky.social‬, INSERM, @hopitalnecker.bsky.social, @upcite.bsky.social‬, @hhmi.org, @rockefelleruniv.bsky.social

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Casanova Lab @casanovalab.bsky.social · 13d

7/ It could never have come together without the organizational efforts of Lazaro Lorenzo – thank you, Laz!

Casanova Lab @casanovalab.bsky.social · 13d

6/ Alessandro Borghesi, Alexandra Kreins, Tom Le Voyer, Paul Bastard, and Trine Mogensen

Casanova Lab @casanovalab.bsky.social · 13d

5/ @benhale.bsky.social, Francesca Conti, @panhammarstrom.bsky.social‬, Rainer Döffinger, Isabelle Meyts…

Casanova Lab @casanovalab.bsky.social · 13d

4/ Janine Reichenbach, @sanchoshimizu.bsky.social, @jonathanbohlen.bsky.social, Horst von Bernuth, @vbeziat.bsky.social…

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Casanova Lab @casanovalab.bsky.social · 13d

3/ We are grateful to all our speakers, who brought us fascinating insights into the latest developments and directions in IEI: Yanick Crow, András Spaan, Sophie Hambleton, @jrosain.bsky.social…

Casanova Lab @casanovalab.bsky.social · 13d

2/ Thanks to @novo-nordisk.bsky.social for the opportunity to host this Symposium and to Jørgen Frøkiær, Chairperson of the Committee for the Novo Nordisk Prize, for kicking us off in grand style

Casanova Lab @casanovalab.bsky.social · 13d

1/ We are celebrating the Novo Nordisk Prize Symposium: Inborn Errors of Immunity – a huge success yesterday at the @institutimagine.bsky.social in Paris featuring talks by 19 leading European researchers on human IEI

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Casanova Lab @casanovalab.bsky.social · 13d

6/ Alessandro Borghesi, Alexandra Kreins, Tom Le Voyer, Paul Bastard, and Trine Mogensen

Casanova Lab @casanovalab.bsky.social · 13d

5/ @benhale.bsky.social, Francesca Conti, @panhammarstrom.bsky.social‬, Rainer Döffinger, Isabelle Meyts…