Casanova Lab
@casanova_lab
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We're a research lab at Rockefeller University (NY) and Necker Hospital (Paris) studying human genetic and immunological determinants of infectious diseases.
Joined August 2018
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Pinned Tweet
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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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
😀
42
787
2K
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
()
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558
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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507
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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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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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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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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1/ In
@JExpMed
, we report a null IFNAR1 allele that is surprisingly common in western Polynesia, with a MAF>1%.
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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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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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1/ Today in
@NatImmunol
, we explain our strategy to detect individuals genetically “resistant” to SARS-CoV-2 infection ().
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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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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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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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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 ().
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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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1/ Here is Masato Ogishi's report in
@NatureMedicine
of a child with autosomal recessive, complete PD-1 deficiency ().
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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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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 ().
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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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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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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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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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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
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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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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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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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Interferon deficiency can lead to severe COVID
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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 ().
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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)!
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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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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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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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152
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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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
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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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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 !
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1/ Today in
@ScienceMagazine
,
@aspaan1
& colleagues show that human
#OTULIN
#haploinsufficiency
impairs non-leukocytic cell-intrinsic immunity to the
#staphylococcal
alpha-toxin ().
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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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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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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 📧 .
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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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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:
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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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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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@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
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Happy to share a Commentary by the COVID Human Genetic Effort in the inaugural issue of
@MedCellPress
, which is focused on
#COVID19
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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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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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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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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
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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
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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.
3
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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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Thank you
@ErinBurnett
and
@CNN
for the opportunity to explain our
#COVIDHumanGeneticEffort
, visit to learn more: Please RT.
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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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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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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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Misdirected antibodies linked to severe COVID-19
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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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Human Th cells without CD4 ?? See below 🙂
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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🎉 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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From pediatrics to geriatrics: genetics always wins 😉
Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs
3
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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
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1/ Check out the paper by
@MoniquevdWijst
,
@sara_e_vazquez
,
@ghartoularos
from
@UCSF
and P Bastard in
@ScienceTM
().
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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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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 :-)
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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1/ In
@JExpMed
,
@anne_puel
, Paul Bastard, and
@BustamanteJaci1
review the development of human auto-Abs to cytokines underlying infectious diseases ()
2
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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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Another superb paper by Yanick Crow & his team:
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease
2
25
85
Our study reported in
@NEJM
today provided the first answer to both questions:
@ALNeehus
@BigioBenedetta
@BustamanteJaci1
@LaurentAbel4
@BoissonDupuis
@BeziatV
6
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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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Excellent review on monogenic SLE:
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Thanks to Mark Davis for resurrecting "the human model" () in his latest masterpiece: Standing on the shoulders of mice
2
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8/ Overall, human type I IFN is essential for survival – albeit against surprisingly few viruses. Who would have predicted this?
2
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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
!
2
29
79
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 🙂
1
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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.
5
20
79
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
:
3
40
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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 😀
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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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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)
1
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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 ().
3
34
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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
!
2
25
74
Beautiful paper expanding the fields of inborn errors of NF-kB and type I interferonopathies !
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
3
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2
17
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1/ The COVID Human Genetic Effort is happy to report in
@JExpMed
that patients with inherited IRAK4 or MYD88 deficiency are at high risk of hypoxemic COVID-19 pneumonia ().
3
22
73
1/ I am thrilled to share with you an essay published in
@PNASNews
about
#Ren
éDubos and the history of ideas pertaining to the
#pathogenesis
of
#infectious
diseases” ().
2
23
72
Great N&V in
@nresearchnews
by
@rkhamsi
on auto-Abs underlying critical
#COVID19
@aaronmring
@VirusesImmunity
@MichelGoldman
@DaveLeeERMD
@anish_suri
@BrianRWasik
6
22
71
Happy to have provided a little help to the
@amara_lab
and the Soumelis lab, who have elegantly shown that the stimulation of pDCs by SARS-CoV-2 is dependent on IRAK4 and UNC93B, and by inference on the TLR7-TLR8-TLR9 pathway
3
12
69
Happy new year to all ! Pic of Mt Viso (in the back) taken earlier today :-)
4
3
69
A must-read recap of 40 years of first-class science:
B cell diversification in gut-associated lymphoid tissues: From birds to humans
1
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