Casanova Lab @casanova_lab Twitter profile

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Casanova Lab

5 days

1/ We are excited to share our report in #JEM that about 10% of severe tick-borne encephalitis (TBE) cases, triggered by the TBE virus (TBEV), are due to pre-existing auto-Abs neutralizing type I IFNs ().

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Casanova Lab

@casanova_lab

4 years

We have been silent for a while because our lab and the CHGE were entirely focused on finishing 'twin papers' in @ScienceMagazine about inborn errors of type I IFN or auto-antibodies to type I IFN in nearly 15% of patients with life-threatening #COVID19 😀

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Casanova Lab

@casanova_lab

3 years

@raoult_didier @VidalFrederique C'est exact. Merci Didier.

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Casanova Lab

@casanova_lab

2 years

1/ Together with the COVID Human Genetics Effort, we are happy to report our finding of inborn errors of the OAS-RNase L pathway in children with MIS-C #Misc #Pims in @ScienceMagazine ()

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Autosomal-recessive deficits in RNA sensing can result in SARS-CoV-2–triggered Kawasaki-like disease.

www.science.org

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Casanova Lab

@casanova_lab

11 months

1/ We are excited to report in @Nature the discovery that human inborn errors of the alternative NF-κB pathway-dependent immunity underlie the development of auto-Abs neutralizing type I IFNs ().

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Casanova Lab

@casanova_lab

3 years

In 2 papers in @SciImmunolog , we report that inherited TLR7 deficiency underlies life-threatening COVID-19 in >1% of men <60 yrs (), while auto-Abs neutralizing type I IFNs underlie > 20% of critical cases in patients >80 yrs ()

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Casanova Lab

@casanova_lab

5 years

We will recruit children and adults <50 yo without risk factor admitted to ICU for “idiopathic” #COVID19 . We will test the hypothesis that they carry inborn errors of immunity to this virus. Please refer patients to @casanova_lab and please RT.

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Casanova Lab

@casanova_lab

2 years

1/ We are excited to share some news about human IRF1, which surprisingly turns out to be the key transcription factor downstream from IFN-gamma and STAT1 in macrophages ().

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Casanova Lab

@casanova_lab

3 years

1/ Here is a review in @Nature by the of the human #genetic and immunological determinants of life-threatening #COVID -19 ().

Human genetic and immunological determinants of critical COVID-19 pneumonia

Nature - The COVID Human Genetic Effort examines the molecular, cellular and immunological determinants of the various SARS-CoV-2-related disease manifestations by searching for causal errors of...

www.nature.com

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Casanova Lab

@casanova_lab

9 months

1/ We are excited to report the discovery and mechanistic exploration of human AR complete CCR2 deficiency in @CellCellPress . Surprisingly, CCR2 deficiency underlies two narrow phenotypes: progressive polycystic lung disease and mycobacterial disease ().

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Casanova Lab

@casanova_lab

2 years

1/ In @JExpMed , we report a null IFNAR1 allele that is surprisingly common in western Polynesia, with a MAF>1%.

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Casanova Lab

@casanova_lab

2 years

1/ Happy to share a perspective of our 30-year-long journey searching for human genetic and immunological determinants of infectious diseases ().

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Casanova Lab

@casanova_lab

1 year

1/ We are excited to share our report in @JExpMed showing that about 40% of cases of #WestNilevirus ( #WNV ) encephalitis are due to pre-existing auto-Abs neutralizing type I IFNs, making WNV encephalitis the best understood human infectious disease ().

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Casanova Lab

@casanova_lab

5 years

Pleased to share the logo and website () of our #COVIDHumanGeneticEffort to discover monogenic inborn errors of immunity to SARS-CoV2 in previously healthy patients < 50 years admitted to an ICU. Please RT.

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Casanova Lab

@casanova_lab

3 years

1/ Today in @NatImmunol , we explain our strategy to detect individuals genetically “resistant” to SARS-CoV-2 infection ().

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Casanova Lab

@casanova_lab

3 years

1/ In this first @SciImmunology paper (), we show that at least 1% of men younger than 60 years with life-threatening COVID-19 are sick because of X-linked recessive (XR) TLR7 deficiency.

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Casanova Lab

@casanova_lab

3 years

In Amsterdam, auto-antibodies neutralizing type I IFNs are found exclusively in C-19 patients admitted to the ICU in @yourICM (). Great work by Rutger Koning, Matthijs C. Brouwer, and Diederik van de Beek!

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Casanova Lab

@casanova_lab

3 years

1/ In this @ScienceMagazine #Review , we explain how the discovery of single-gene inborn errors of immunity, sometimes in single patients, can reveal general mechanisms of viral inflammation and disease ().

Mechanisms of viral inflammation and disease in humans

www.science.org

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Casanova Lab

@casanova_lab

2 years

1/ We are excited to share exciting news about human IL-23 in #ScienceImmunology ().

Human IL-23 is essential for IFN-γ–dependent immunity to mycobacteria

IL-23 signaling is required for baseline and IL-23-inducible IFN-γ immunity in both Vδ2+ γδT and MAIT cells.

www.science.org

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Casanova Lab

@casanova_lab

5 months

1/ We are happy to share our review on “The Ouroboros of Autoimmunity” published in @NatImmunol ! ()

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Casanova Lab

@casanova_lab

4 years

We show that neutralizing autoantibodies to type I IFNs underlie a third of the life-threatening adverse reactions to yellow fever virus live-attenuated virus (YFV 17D):

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Casanova Lab

@casanova_lab

3 years

1/ Here is Masato Ogishi's report in @NatureMedicine of a child with autosomal recessive, complete PD-1 deficiency ().

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Casanova Lab

@casanova_lab

4 years

Here is the other paper, which shows that neutralizing auto-Abs to type I IFNs account for at least 10% of critical cases of #COVID19 , even in a greater proportion in men: an auto-immune phenocopy of the corresponding inborn errors @ScienceMagazine

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Casanova Lab

@casanova_lab

3 months

If you are convinced that microbes are causal of infectious diseases, please take a breath, and consider the alternative possibility that infection with a trigger microbe reveals a preexisting cause of disease in the host:

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Casanova Lab

@casanova_lab

2 years

1/ In @SciImmunology we report that about 25% of vaccinated patients with critical C-19 pneumonia and a normal Ab response to the vaccine have high levels of auto-Abs to type I IFN ().

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Type I IFN auto-Abs are found in 20% of hypoxemic, mRNA-vaccinated COVID-19 patients despite SARS-CoV-2 neutralizing antibodies.

www.science.org

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Casanova Lab

@casanova_lab

2 years

1/ We are happy to share with you our paper in @JExpMed reporting auto-Abs to type I IFNs in 5% of patients with critical influenza pneumonia (; ).

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Casanova Lab

@casanova_lab

5 months

It has been an immense privilege and honor to review with John MacMicking and Carl Nathan in @ScienceMagazine the past 40 years of IFN-gamma research, and reflect on its neglected and potential role as a medicine

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Casanova Lab

@casanova_lab

4 years

I'm delighted to share the pre-print of the "manifesto" of our #COVID19 Human Genetic Effort, which was posted online by Cell Thoughts, hands, suggestions, critiques, samples, reagents, and even funds welcome 😀 #Covid_19 #coronavirus @CellPressNews

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Casanova Lab

@casanova_lab

4 years

Let's take a break from COVID-19 with a review on the expanding universe of Inborn Errors of Immunity (IEI) in @SciImmunology written with L Notarangelo, R Bacheta & H Su . Or could COVID-19 also fall into the IEI orbit ? 😉

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Casanova Lab

@casanova_lab

3 years

Very nice study by Angelique Grenier and Benjamin Rossi in Aulnay sous Bois: Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital

Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital -...

Recent studies reported the presence of pre-existing autoantibodies (auto-Abs) neutralizing type I interferons (IFNs) in at least 15% of patients with critical COVID-19 pneumonia. In one study, these...

pubmed.ncbi.nlm.nih.gov

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Casanova Lab

@casanova_lab

4 years

Here is the first paper, which shows that variants in only 13 influenza susceptibility candidate genes that govern TLR3- and IRF7-dependent production of type I IFNs account for at least 3.5% of critical cases of #COVID19 @ScienceMagazine

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Casanova Lab

@casanova_lab

3 years

1/ In this 2nd @SciImmunology paper (), we show pre-existing auto-Abs neutralizing low physiological concentrations of type I IFNs account for 15% of critical COVID-19 cases, including 20% of critical cases in patients >80 yrs and 20% of deaths across ages.

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Casanova Lab

@casanova_lab

3 years

1/ Here is @BeziatV report in @CellCellPress of a family with autosomal recessive CD28 deficiency and severe warts caused by human papillomaviruses (HPV) ().

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Casanova Lab

@casanova_lab

11 months

1/ We are excited to report in @Cell the discovery and mechanistic exploration of human, X-linked recessive, complete MCST1 deficiency as a surprising genetic etiology of MSMD ().

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Casanova Lab

@casanova_lab

2 years

1/ Today in @PNASNews : Here is a population-based analysis of the impact of auto-Abs to type I #IFN on #COVID19 death ().

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies | PNAS

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection fatality rate (IFR) doubles with every 5 y of age from childhood onward. Cir...

www.pnas.org

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Casanova Lab

@casanova_lab

4 years

Interferon deficiency can lead to severe COVID

Nature - Genetic and antibody clues to a cause of life-threatening illness.

www.nature.com

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Casanova Lab

@casanova_lab

1 year

1/ We are happy to share our report of inherited RIPK3 deficiency in a child with HSV-1 encephalitis (HSE) in @SciImmunology (). HUGE thanks to all collaborators (list below)!

Encephalitis and poor neuronal death–mediated control of herpes simplex virus in human inherited...

Autosomal recessive RIPK3 deficiency impairs cell death–dependent control of HSV-1 in cortical neurons, underlying HSV-1 encephalitis.

www.science.org

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Casanova Lab

@casanova_lab

3 years

1/ We report in @PNASNews that mAbs neutralizing SARS-CoV-2 can overcome a complete deficiency of type I and III IFN immunity in an unvaccinated child with inherited IRF9 deficiency infected with the virus ().

Monoclonal antibody-mediated neutralization of SARS-CoV-2 in an IRF9-deficient child | PNAS

We describe an unvaccinated child at risk for life-threatening COVID-19 due to an inherited deficiency of IRF9, which governs ISGF-3–dependent resp...

www.pnas.org

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Casanova Lab

@casanova_lab

9 months

1/ 📢 📰 In @JExpMed , we report that about 10% of children with life-threatening #COVID19 harbor auto-antibodies to type I IFNs. ()

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Casanova Lab

@casanova_lab

4 years

Here is the final, copy-edited version of our Commentary about the #COVID19 Human Genetic Effort which is now online and will be printed as is in @CellPressNews . Now let's implement this program and turn words into facts 😉 #COVID #coronavirus

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Casanova Lab

@casanova_lab

4 years

Here, we report a woman with known pre-existing auto-Abs neutralizing IFN-alphas but not IFN-beta, who was infected with SARS-CoV-2. We treated her with IFN-beta early in the course of infection and she did not develop severe disease:

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Casanova Lab

@casanova_lab

3 months

I am both delighted and honored to share the fruit of a wonderful thinking and writing exercise with @crow_lab . Injecting some human genetics (literally) and endocrinology (figuratively) into immunology might be refreshing 🙂

Human life within a narrow range: The lethal ups and downs of type I interferons

Genetic studies of type I interferon signaling reveal the narrow physiological range that is compatible with and essential for life.

www.science.org

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Casanova Lab

@casanova_lab

4 years

Take a break from COVID-19 with this collaborative in-depth immunological study of a child with mycobacterial disease due to inherited T-bet deficiency Big thanks to @CellCellPress for helping us fight the prejudice against single-patient genetic studies😊

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Casanova Lab

@casanova_lab

4 years

A huge thanks to the patients and their families world-wide, our institutions @HHMINEWS , @RockefellerUniv , @InstitutImagine , @APHP , @Inserm , @Univ_Paris , and our fantastic co-authors, with special thanks to the @NIAIDNews and members of the CHGE!

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Casanova Lab

@casanova_lab

2 years

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity - PubMed

The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which accompanies and...

pubmed.ncbi.nlm.nih.gov

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Casanova Lab

@casanova_lab

4 years

I'm delighted to share the pre-print of the "manifesto" of our #COVID19 Human Genetic Effort, which was posted online by Cell Thoughts, hands, suggestions, critiques, samples, reagents, and even funds welcome 😀 #Covid_19 #coronavirus @CellPressNews

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Casanova Lab

@casanova_lab

4 years

Viruses, microscopy and fast radio bursts: 10 remarkable discoveries from 2020 Both delighted and honored to see the 'COVID Human Genetic Effort' selected by @Nature and highlighted by @meffrelab and @VirusesImmunity . Thank you !

Viruses, microscopy and fast radio bursts: 10 remarkable discoveries from 2020

Nature - Highlights from News & Views published this year.

www.nature.com

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Casanova Lab

@casanova_lab

5 years

Don't tell anyone, but it took 10 years from the first blood draw of the 3 patients from this family to the present paper. Or maybe you can tell agencies, institutions, governments, and more surprisingly colleagues that claim they can solve thousands of cases in a few years ? ;-)

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Casanova Lab

@casanova_lab

2 years

1/ Today in @ScienceMagazine , @aspaan1 & colleagues show that human #OTULIN #haploinsufficiency impairs non-leukocytic cell-intrinsic immunity to the #staphylococcal alpha-toxin ().

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin

Haploinsufficiency of the linear deubiquitinase OTULIN underlies life-threatening staphylococcal disease by disrupting cellular defenses.

www.science.org

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Casanova Lab

@casanova_lab

3 years

We report @JExpMed an international survey of SARS-CoV-2-infected APS-1 patients and show that they are at very high risk of life-threatening, critical C-19 pneumonia due to preexisting auto-Abs neutralizing type I IFNs ()

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Casanova Lab

@casanova_lab

10 months

1/ 🔉Our lab is looking for two energetic and enthusiastic #postdocs 👩‍🔬🧑‍🔬 to study the causes and consequences of auto-Abs to type I IFNs (). If you are interested, please write to casanova @rockefeller .edu 📧 .

From rare disorders of immunity to common determinants of infection: Following the mechanistic...

Inborn errors associated with rare susceptibility to weakly virulent agents illuminate fundamental immunopathological mechanisms of disease.

www.cell.com

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Casanova Lab

@casanova_lab

3 years

HELP: we search for serum or plasma from > 5,000 CHILDREN, healthy OR with non-immunological, non-infectious conditions, in order to determine the prevalence of AUTO-Abs to TYPE I IFN from birth to age 18 years, as we did in adults between 18 and 100 yrs

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Casanova Lab

@casanova_lab

4 months

1/ We’re very proud of our PhD grad @MasatoOgishi ! A superstar in the lab since 2018, he co-authored >20 papers, including 6 as first/co-first author (so far!). This speaks to the volume of his productivity but also his collaborative spirit and generosity in helping others.

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Casanova Lab

@casanova_lab

4 years

Here is the ‘interim update’ of the IUIS committee on Inborn Errors of Immunity, hot off the press! Congrats and thanks to @stutangye , @IsabelleMeyts , @anne_puel , and colleagues:

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS...

Journal of Clinical Immunology - The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies...

link.springer.com

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Casanova Lab

@casanova_lab

3 years

1/ In this @JExpMed paper (), we show that all STAT3 mutations underlying an autosomal dominant (AD) form of Hyper IgE syndrome (HIES), even mutations creating a premature stop codon, do so by negative dominance, as opposed to haplo-insufficiency.

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Casanova Lab

@casanova_lab

4 years

Happy to share a Commentary by the COVID Human Genetic Effort in the inaugural issue of @MedCellPress , which is focused on #COVID19

Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation

The risk of life-threatening COVID-19 pneumonia increases sharply after 65 years of age, but other epidemiological risk factors, genetic or otherwise, are modest. Various rare monogenic inborn errors...

www.cell.com

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Casanova Lab

@casanova_lab

3 years

@Sonic_urticant Si: Didier Raoult et l'IHU de Marseille sont co-auteurs, ayant, comme la plupart des équipes françaises, participé depuis le début de la pandémie à notre

COVID HUMAN GENETIC EFFORT

COVID Human Genetic Effort is an international consortium aiming to discover inborn errors of immunity underlying severe forms of COVID-19 in previously healthy individuals

www.covidhge.com

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Casanova Lab

@casanova_lab

2 years

1/ In @JExpMed , @ScientistTess , @tutu_ZQ , @ZhiyongLiu7 , @IsabelleMeyts , and Yenan Bryceson report the genetic, immunological, and clinical features of 7 IRF7-deficient patients from 6 families and 5 ancestries ().

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Casanova Lab

@casanova_lab

2 years

1/ In @JExpMed , @tutu_ZQ , Daniela Matuozzo, @Jeremie_LP , @RiceLaboratory , @ShenYingZhang1 , @AurelieCobat , report recessive inborn errors of type I IFN immunity in 12 of 112 children (10.7%) who were hospitalized for COVID-19 pneumonia ().

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Casanova Lab

@casanova_lab

5 years

Great collaboration with friends in NY, Belgium, Brazil, and Iran, reveals that inherited complete IFNAR1 deficiency can be clinically silent until vaccination by live-attenuated #measles or #yellowfever viruses @IsabelleMeyts @tutu_ZQ @JExpMed

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Casanova Lab

@casanova_lab

6 years

Let's keep in mind that TB is not only infectious but also genetic, as shown in this classic 1943 paper. Defeating TB will require an understanding of its human genetic and immunological basis, at the molecular and cellular levels. #WorldTuberculosisDay

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Casanova Lab

@casanova_lab

8 months

Remarkable and entertaining introduction to the field of IEI by @HsiehElena @alexbolze & Joseph Hernandez: Inborn errors of immunity illuminate mechanisms of human immunology and pave the road to precision medicine

Inborn errors of immunity illuminate mechanisms of human immunology and pave the road to precision...

Click on the article title to read more.

onlinelibrary.wiley.com

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Casanova Lab

@casanova_lab

9 months

After having been neglected for nearly 40 years, auto-Abs against type I IFNs are back on the radar: Human autoantibodies neutralizing type I IFNs: From 1981 to 2023

Human autoantibodies neutralizing type I IFNs: From 1981 to 2023 - PubMed

Human autoantibodies (auto-Abs) neutralizing type I IFNs were first discovered in a woman with disseminated shingles and were described by Ion Gresser from 1981 to 1984. They have since been found in...

pubmed.ncbi.nlm.nih.gov

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Casanova Lab

@casanova_lab

3 years

1/ Here is compelling evidence by @ThierryWalzer and Sophie Trouillet-Assant in #JEM that pre-existing auto-Abs neutralizing type I IFN operate in the nasal mucosae in the early days of SARS-CoV-2 infection, dampening local type I IFN immunity ().

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Casanova Lab

@casanova_lab

4 years

Thank you @ErinBurnett and @CNN for the opportunity to explain our #COVIDHumanGeneticEffort , visit to learn more: Please RT.

EBOF 4.10.20 Dr. Casanova

This is "EBOF 4.10.20 Dr. Casanova" by EBOF on Vimeo, the home for high quality videos and the people who love them.

vimeo.com

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Casanova Lab

@casanova_lab

3 years

Steve J. Seligman passed away at 90 years of age. He was the oldest member of our lab but not the least energetic and enthusiastic. We miss him sorely. Here is his obituary in the Journal of Clinical Immunology.

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Casanova Lab

@casanova_lab

6 years

A 25-year long MSMD gestation gives birth to the first monogenic but common etiology of TB. Homozygosity for a common TYK2 variant blocks IL-23-dependent IFN-γ production and predisposes to TB 😀 @SciImmunology

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Casanova Lab

@casanova_lab

3 years

1/ Here's evidence that C-19 convalescent plasma is potentially harmful. @sara_e_vazquez & others found auto-Abs to type I IFN in plasma samples that had been given to patients @SpringerNature .

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Casanova Lab

@casanova_lab

3 years

1/ Here is the position paper of #COVID HGE's #ClinicalTrials Think Tank in which we propose treatment of ambulatory patients, as soon as possible, with one or another form of IFN-beta @Synairgenplc

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Casanova Lab

@casanova_lab

5 years

This is Casanova Lab video #1 , which features Jean-Laurent Casanova ( @casanova_lab ).

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Casanova Lab

@casanova_lab

3 years

1/ People say #MISC is not #KawasakiDisease . Okay. But what if Kawasaki disease took an s, one per virus, and MIS-C were one of many Kawasaki diseases & if MIS-C were a consequence of inborn errors of immunity (IEI) to SARS-CoV-2, different from those underlying C-19 pneumonia?

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Casanova Lab

@casanova_lab

3 years

Misdirected antibodies linked to severe COVID-19

Antibodies that mistakenly target the body’s own immune-system proteins may account for about 20% of COVID-19 deaths.

www.nih.gov

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Casanova Lab

@casanova_lab

1 month

Superb collaborative study suggesting that the famous "COVID-toes" may truly be episodes of pernio triggered by SARS-CoV-2, even without seroconversion:

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Casanova Lab

@casanova_lab

6 months

Human Th cells without CD4 ?? See below 🙂

JExpMed

@JExpMed

6 months

The authors describe the clinical features, cellular & molecular mechanisms underlying immune deficiency in 7 patients w/ biallelic germline variants in CD4. This reveals important roles for CD4 in host defense against a range of pathogens, especially HPV.

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Casanova Lab

@casanova_lab

9 months

🎉 Bonne année à tous! 🎊 Wishing you a happy New Year! 🌟 Let's embrace new opportunities, celebrate achievements, and cherish precious moments. May 2024 bring you bonne santé, bonheur, et succès! Cheers to a year ahead filled with new challenges and remarkable discoveries!🥂🌐

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Casanova Lab

@casanova_lab

1 year

1/ We are thrilled to share our latest paper published in @GenomeMedicine 🧬entitled “Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening #COVID19 ”! Check it out at

Genome Medicine

Uniquely positioned at the interface between omics and medicine, Genome Medicine is BMC's flagship journal focusing on the application of genetics, genomics ...

genomemedicine.biomedcentral.com

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Casanova Lab

@casanova_lab

3 years

1/ Check out the paper by @MoniquevdWijst , @sara_e_vazquez , @ghartoularos from @UCSF and P Bastard in @ScienceTM ().

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Casanova Lab

@casanova_lab

2 years

From pediatrics to geriatrics: genetics always wins 😉 Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs

Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs - PubMed

Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of...

pubmed.ncbi.nlm.nih.gov

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Casanova Lab

@casanova_lab

6 years

10 years prior to moving to @RockefellerUniv , we began collecting anti-TB posters displayed in France since 1914. We learned only in 2008 that these beautiful drawings had been funded by @RockefellerFdn ! Attached are the first 4, which attest to the political climate during WWI…

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Casanova Lab

@casanova_lab

6 years

Carl’s discoveries range from IFNg, IL10, and NOS2 in the 1980s to a new anti-mycobacterial drug last month ! One theme — phagocytes and mycobacteria — countless variations :-)

Weill Cornell Medicine

@WeillCornell

6 years

Dr. Carl Nathan has been awarded the 2019 Weill Exemplary Achievement Award. The Weill Award recognizes outstanding faculty members whose transformational work enhances health and healthcare worldwide. Dr. Nathan's career has spanned over 30 years. Link:

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Casanova Lab

@casanova_lab

8 months

Another superb paper by Yanick Crow & his team: Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease - PubMed

TLR7 recognizes pathogen-derived single-stranded RNA (ssRNA), a function integral to the innate immune response to viral infection. Notably, TLR7 can also recognize self-derived ssRNA, with gain-of...

pubmed.ncbi.nlm.nih.gov

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Casanova Lab

@casanova_lab

3 years

1/ In @JExpMed , @anne_puel , Paul Bastard, and @BustamanteJaci1 review the development of human auto-Abs to cytokines underlying infectious diseases ()

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Casanova Lab

@casanova_lab

7 months

1/ 🌐 We're ecstatic to introduce our new website, , the digital home for our French-American research lab of human genetics of infectious diseases. Explore our website to learn more about our team and groundbreaking projects and discoveries.

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Casanova Lab

@casanova_lab

2 years

Obituary: Emil Raphael Unanue, renowned immunologist, 88 via @wustlmed

Obituary: Emil Raphael Unanue, renowned immunologist, 88 | Washington University School of Medicine...

Former department head and noted scientist altered course of immunology research

medicine.wustl.edu

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Casanova Lab

@casanova_lab

3 years

1/ In #JoCI / #Springer , @xsolanich & team report #autoAbs neutralizing high concentrations of #type1IFN in 10% of patients with critical #COVID19 pneumonia in their hospital ().

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Casanova Lab

@casanova_lab

6 months

1/ We're seeking enthusiastic students & post-docs to join @ShenYingZhang1 's team in to explore the human genetic and immunological basis of viral encephalitis, in a global cohort of patients with encephalitis due to herpesviruses, arboviruses and others.

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Casanova Lab

@casanova_lab

6 months

Excellent review on monogenic SLE:

Mendelian Causes of Autoimmunity: the Lupus Phenotype

Journal of Clinical Immunology - Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by its large heterogeneity in terms of clinical presentation and severity....

link.springer.com

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Casanova Lab

@casanova_lab

5 years

Our study reported in @NEJM today provided the first answer to both questions: @ALNeehus @BigioBenedetta @BustamanteJaci1 @LaurentAbel4 @BoissonDupuis @BeziatV

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency | NEJM

Cytomegalovirus (CMV) can cause severe disease in children and adults with a variety of inherited or acquired T-cell immunodeficiencies, who are prone to multiple infections. It can also rarely cau...

www.nejm.org

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Casanova Lab

@casanova_lab

2 years

8/ Overall, human type I IFN is essential for survival – albeit against surprisingly few viruses. Who would have predicted this?

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Casanova Lab

@casanova_lab

1 year

1/ We're excited to share Rolf Kostmann’s memoirs, translated from Swedish to English in Journal of Clinical Immunology (). Kostmann (1909-82), a Swedish pediatrician, discovered autosomal recessive neutropenia, arguably the first inborn error of immunity.

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Casanova Lab

@casanova_lab

2 years

Thanks to Mark Davis for resurrecting "the human model" () in his latest masterpiece: Standing on the shoulders of mice

Standing on the shoulders of mice - PubMed

While inbred mice have informed most of what we know about the immune system in the modern era, they have clear limitations with respect to their ability to be informative regarding genetic heterog...

pubmed.ncbi.nlm.nih.gov

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Casanova Lab

@casanova_lab

4 years

Early treatment with IFN-alpha2a may be beneficial to patients with inborn errors of type I IFN production if given early in the course of SARS-CoV-2 infection. See Thanks to @LevyRomain Paul Bastard, Fanny Lanternier, Marc Lecuit, and @ShenYingZhang1 !

IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2

Journal of Clinical Immunology -

link.springer.com

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Casanova Lab

@casanova_lab

2 years

Reconciling Mouse and Human Immunology at the Altar of Genetics Philippe Gros and I hope our analysis may help cool the controversy and clarify the pros and cons of each approach 🙂

Reconciling Mouse and Human Immunology at the Altar of Genetics - PubMed

Immunity to infection has been extensively studied in humans and mice bearing naturally occurring or experimentally introduced germline mutations. Mouse studies are sometimes neglected by human...

pubmed.ncbi.nlm.nih.gov

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Casanova Lab

@casanova_lab

4 years

Here is our Introduction to the issue of #HumanGenetics focused on Infectious Diseases A big thank you to the 29 colleagues who wrote superb reviews that cover the entire field. They form a solid base camp for the genetic ascent of COVID-19 😀

The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and...

Human Genetics - Multicellular eukaryotes emerged late in evolution from an ocean of viruses, bacteria, archaea, and unicellular eukaryotes. These macroorganisms are exposed to and infected by a...

link.springer.com

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Casanova Lab

@casanova_lab

1 month

The latest paper of our lab, led by first class first authors @ALNeehus and @AriasAAS !

Anna-Lena Neehus

@ALNeehus

1 month

1/ Exactly one year after my PhD defense, I am very excited to share with you the last chapter of my thesis published today in @Nature about humans with inherited TNF deficiency: .

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Casanova Lab

@casanova_lab

4 years

Here is a phenomenal paper on the evolutionary genetics of the human TB-predisposing P1104A TYK2 allele by @GaspardKerner and @QuintanaMurci with Guillaume Laval, @Etienne_Patin , @BoissonDupuis , and Laurent Abel in the @AJHGNews :

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Casanova Lab

@casanova_lab

4 years

We launched V2 of our website . We warmly thank our growing network of colleagues from >40 countries, who are invaluable to our #COVIDHumanGeneticEffort . We also thank the countless patients without whose participation, this work would not be possible.

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Casanova Lab

@casanova_lab

2 years

Newborn screening fo SCID is now successfully implemented in Germany -- congrats ! Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology...

The German TREC-NBS represents the largest European SCID screening at this point. The incidence of SCID/leaky SCID/OS in Germany is approximately 1:54,000, very similar to previous observations from...

pubmed.ncbi.nlm.nih.gov

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Casanova Lab

@casanova_lab

3 years

1/ With a new biochemical assay testing if 𝘕𝘍𝘒𝘉1 variants impair p50:p65-dependent transcription, @theJuanLi , @Boisson_Bebo and @tutu_ZQ show in @JExpMed that deleterious variants underlie CVID by haploinsufficiency ().

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Casanova Lab

@casanova_lab

3 years

1/ Registration is now open for the 29th Annual Henry Kunkel Society meeting on "Innate Immunity: from basic biology to human disease" in partnership with @JExpMed !

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Casanova Lab

@casanova_lab

1 year

Beautiful paper expanding the fields of inborn errors of NF-kB and type I interferonopathies !

JExpMed

@JExpMed

1 year

Moriya, Nakano, @SatoshiOkada3 @Hiroshima_Uni et al. establish a novel form of IEI due to DN RELA mutations as a cause of chronic mucocutaneous ulcerations with autoinflammatory and/or autoimmune manifestations. @casanova_lab #Immunodeficiency

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