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Casanova Lab

@casanovalab.bsky.social

860 followers 220 following 280 posts

We're a research lab at Rockefeller University (NY) and Necker Hospital (Paris) studying human genetic and immunological determinants of infectious diseases. https://www.hgid.org/

www.hgid.org

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Casanova Lab @casanovalab.bsky.social · 1d

Last Friday members of our NY lab braved the chilly fall weather to lunch on Bánh Mì al fresco. This HGID crew is a hardy bunch that doesn’t let much stand in their way!

Casanova Lab @casanovalab.bsky.social · 23h

A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility url: rupress.org/jhi/article/...

A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility | Journal of Human Immunity | Rockefeller University Press

We describe a novel heterozygous variant in AIRE in 3 individuals with mild APECED. This variant was validated as being pathogenic by a mechanism of negati

rupress.org

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Reposted by Casanova Lab

Journal of Human Immunity @jhumimmunity.org · 2d

This epidemiological study of #CGD in Latin America by Tiago Santos de Oliveira, Antonio Condino-Neto et al. emphasizes the need for better diagnosis, newborn screening, regional treatment guidelines, & expanded access to effective therapies rupress.org/jhi/article/...

@lasidofficial.bsky.social

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

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

rupress.org

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Reposted by Casanova Lab

Journal of Human Immunity @jhumimmunity.org · 1d

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset. A new Research Letter from Tahereh Noori, Aaqib Zaffar Banday, Ilia Voskoboinik et al. rupress.org/jhi/article/...

🎥 See short video summary: youtu.be/cYSBIU0lh6U

#Immunodeficiency

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Casanova Lab @casanovalab.bsky.social · 1d

Last Friday members of our NY lab braved the chilly fall weather to lunch on Bánh Mì al fresco. This HGID crew is a hardy bunch that doesn’t let much stand in their way!

Reposted by Casanova Lab

Rockefeller University Press @rupress.org · 6d

In @jhumimmunity.org, Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals w/ mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. rupress.org/jhi/article/...

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Reposted by Casanova Lab

Journal of Human Immunity @jhumimmunity.org · 6d

Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals with mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. rupress.org/jhi/article/...

#Autoimmunity

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Casanova Lab @casanovalab.bsky.social · 7d

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset url: rupress.org/jhi/article/...

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset | Journal of Human Immunity | Rockefeller University Press

Recently developed in vitro technology was used to define the function of a previously uncharacterized STX11 mutation L135P present in a patient with atypi

rupress.org

Casanova Lab @casanovalab.bsky.social · 8d

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

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

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

rupress.org

Reposted by Casanova Lab

Journal of Human Immunity @jhumimmunity.org · 12d

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 · 13d

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/...

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

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

rupress.org

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Casanova Lab @casanovalab.bsky.social · 13d

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

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

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

rupress.org

Casanova Lab @casanovalab.bsky.social · 16d

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 · 16d

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/

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

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 · 16d

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 · 16d

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.”

Casanova Lab @casanovalab.bsky.social · 16d

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...

Tuberculosis in otherwise healthy adults with inherited TNF deficiency - Nature

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

www.nature.com

Casanova Lab @casanovalab.bsky.social · 16d

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 · 16d

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/...

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

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

rupress.org

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Casanova Lab @casanovalab.bsky.social · 17d

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/...

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

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

rupress.org

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Casanova Lab @casanovalab.bsky.social · 19d

Thanks Jonathan !!

Casanova Lab @casanovalab.bsky.social · 19d

Thanks so much Ben !!

Casanova Lab @casanovalab.bsky.social · 20d

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

Casanova Lab @casanovalab.bsky.social · 20d

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

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Casanova Lab @casanovalab.bsky.social · 20d

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

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Casanova Lab @casanovalab.bsky.social · 20d

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

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