Casanova Lab
@casanovalab.bsky.social
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/
https://www.hgid.org/
Pinned
Human immunity | Journal of Human Immunity | Rockefeller University Press
Human immunity is often insufficient against infectious agents and sometimes over-reactive to innocuous components of the environment or the human body. Ge
rupress.org
Have you considered submitting a paper to @jhumimmunity.org ?
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
Nirmatrelvir/ritonavir use reduces risk for long COVID in patients with immunodeficiency url: rupress.org/jhi/article/...
Nirmatrelvir/ritonavir use reduces risk for long COVID in patients with immunodeficiency | Journal of Human Immunity | Rockefeller University Press
Our retrospective study highlights that acute use of nirmatrelvir/ritonavir significantly reduces the risk of post-acute sequelae of SARS-CoV-2 infection (
rupress.org
November 4, 2025 at 3:54 PM
Nirmatrelvir/ritonavir use reduces risk for long COVID in patients with immunodeficiency url: rupress.org/jhi/article/...
Dominant genetically but recessive operationally 🙂
Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans url: rupress.org/jem/article-...
Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans url: rupress.org/jem/article-...
Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans
This study identifies genetically heterozygous and transcriptionally homozygous deficiency of IRF7 as an inborn error of interferon immunity underlying her
rupress.org
November 1, 2025 at 12:32 AM
Dominant genetically but recessive operationally 🙂
Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans url: rupress.org/jem/article-...
Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans url: rupress.org/jem/article-...
Already 53 phenomenal papers published in the @jhumimmunity.org ! Look it up and submit your best papers to the only journal focused on human inborn errors of immunity, their phenocopies, and related topics in human immunology:
rupress.org/jhi
rupress.org/jhi
Journal of Human Immunity | Rockefeller University Press
Journal of Human Immunity (JHI) publishes papers that provide novel insights into the physiology and pathology of human immunity through the study of genetic defects and their phenocopies, including t...
rupress.org
October 31, 2025 at 2:58 PM
Already 53 phenomenal papers published in the @jhumimmunity.org ! Look it up and submit your best papers to the only journal focused on human inborn errors of immunity, their phenocopies, and related topics in human immunology:
rupress.org/jhi
rupress.org/jhi
Reposted by Casanova Lab
The seven enigmas of #SARSCoV2: From the past to the future. New review from Evangelos Andreakos, Helen Su, Jean-Laurent Casanova (@casanovalab.bsky.social) and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
October 31, 2025 at 2:45 PM
The seven enigmas of #SARSCoV2: From the past to the future. New review from Evangelos Andreakos, Helen Su, Jean-Laurent Casanova (@casanovalab.bsky.social) and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
A superb and comprehensive Review:
The systemic effects of 22q11.2 deletion syndrome on immunity url: rupress.org/jhi/article/...
The systemic effects of 22q11.2 deletion syndrome on immunity url: rupress.org/jhi/article/...
The systemic effects of 22q11.2 deletion syndrome on immunity | Journal of Human Immunity | Rockefeller University Press
22q11.2 deletion syndrome has complex clinical presentations, with congenital malformations of the thymus leading to many immune system changes. These are
rupress.org
October 31, 2025 at 1:00 PM
A superb and comprehensive Review:
The systemic effects of 22q11.2 deletion syndrome on immunity url: rupress.org/jhi/article/...
The systemic effects of 22q11.2 deletion syndrome on immunity url: rupress.org/jhi/article/...
Now on PubMed:
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging url: rupress.org/jhi/article/...
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging url: rupress.org/jhi/article/...
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging | Journal of Human Immunity | Rockefeller University Press
STAT1-GOF disease is characterized by infections and autoimmunity. In this article, overall survival after allogeneic HSCT in an international cohort of 36
rupress.org
October 31, 2025 at 2:54 AM
Now on PubMed:
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging url: rupress.org/jhi/article/...
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging url: rupress.org/jhi/article/...
Reposted by Casanova Lab
Noori, Banday, Voskoboinik et al use recently developed in vitro technology to define the function of a previously uncharacterized STX11 mutation L135P in a patient w/ atypical familial hemophagocytic lymphohistiocytosis. rupress.org/jhi/article/...
🎥 See a video summary: youtu.be/cYSBIU0lh6U
🎥 See a video summary: youtu.be/cYSBIU0lh6U
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
October 21, 2025 at 5:59 PM
Noori, Banday, Voskoboinik et al use recently developed in vitro technology to define the function of a previously uncharacterized STX11 mutation L135P in a patient w/ atypical familial hemophagocytic lymphohistiocytosis. rupress.org/jhi/article/...
🎥 See a video summary: youtu.be/cYSBIU0lh6U
🎥 See a video summary: youtu.be/cYSBIU0lh6U
Reposted by Casanova Lab
New study from Valagussa, Kracker et al. @institutimagine.bsky.social identifies and characterizes a novel heterozygous USB1 variant (p.P44L) in a patient with #hypogammaglobulinemia and low #neutrophil counts, showing altered protein localization and function. rupress.org/jhi/article/...
October 22, 2025 at 4:30 PM
New study from Valagussa, Kracker et al. @institutimagine.bsky.social identifies and characterizes a novel heterozygous USB1 variant (p.P44L) in a patient with #hypogammaglobulinemia and low #neutrophil counts, showing altered protein localization and function. rupress.org/jhi/article/...
Reposted by Casanova Lab
Noninfectious manifestations of CVID have not been formally summarized. In this systematic literature review, Ducasa, Marsh et al. provide a comprehensive summary as a reference point for the field, revealing pervasive detrimental noninfectious manifestations. rupress.org/jhi/article/...
October 24, 2025 at 5:15 PM
Noninfectious manifestations of CVID have not been formally summarized. In this systematic literature review, Ducasa, Marsh et al. provide a comprehensive summary as a reference point for the field, revealing pervasive detrimental noninfectious manifestations. rupress.org/jhi/article/...
Reposted by Casanova Lab
Have you considered submitting a paper to @jhumimmunity.org ?
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
Human immunity | Journal of Human Immunity | Rockefeller University Press
Human immunity is often insufficient against infectious agents and sometimes over-reactive to innocuous components of the environment or the human body. Ge
rupress.org
October 26, 2025 at 8:09 AM
Have you considered submitting a paper to @jhumimmunity.org ?
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
Reposted by Casanova Lab
A heterozygous USB1 variant linked to #immunodeficiency. New study from Alice Valagussa, Sven Kracker and colleagues @institutimagine.bsky.social @inserm.fr: rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
October 29, 2025 at 2:15 PM
A heterozygous USB1 variant linked to #immunodeficiency. New study from Alice Valagussa, Sven Kracker and colleagues @institutimagine.bsky.social @inserm.fr: rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
Reposted by Casanova Lab
Ober, Lenoir, @jrosain.bsky.social et al. report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds w/ features of Wiskott-Aldrich Syndrome. rupress.org/jhi/article/...
@esidsociety.bsky.social
@esidsociety.bsky.social
October 30, 2025 at 4:01 PM
Ober, Lenoir, @jrosain.bsky.social et al. report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds w/ features of Wiskott-Aldrich Syndrome. rupress.org/jhi/article/...
@esidsociety.bsky.social
@esidsociety.bsky.social
Reposted by Casanova Lab
Noyer, @stefanfeske.bsky.social et al show that a novel mutation in ORAI1 results in constitutive CRAC channel activation while abolishing stimulation-induced channel opening. The mutation is associated with severe immune dysregulation, incl. altered T & NK cell function rupress.org/jhi/article/...
October 30, 2025 at 4:45 PM
Noyer, @stefanfeske.bsky.social et al show that a novel mutation in ORAI1 results in constitutive CRAC channel activation while abolishing stimulation-induced channel opening. The mutation is associated with severe immune dysregulation, incl. altered T & NK cell function rupress.org/jhi/article/...
Reposted by Casanova Lab
New review: Nicolai van Oers and Kathleen Sullivan summarize 22q11.2 deletion syndrome, which has complex clinical presentations, with congenital malformations of the thymus leading to many immune system changes. rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
October 30, 2025 at 5:30 PM
New review: Nicolai van Oers and Kathleen Sullivan summarize 22q11.2 deletion syndrome, which has complex clinical presentations, with congenital malformations of the thymus leading to many immune system changes. rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
Reposted by Casanova Lab
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases. New review from Adrian Gervais, Alessandro Borghesi (@esibor.bsky.social), Jean-Laurent Casanova (@casanovalab.bsky.social), and Shen-Ying Zhang @inserm.fr: rupress.org/jhi/article/...
October 30, 2025 at 1:45 PM
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases. New review from Adrian Gervais, Alessandro Borghesi (@esibor.bsky.social), Jean-Laurent Casanova (@casanovalab.bsky.social), and Shen-Ying Zhang @inserm.fr: rupress.org/jhi/article/...
Don't forget sequencing the promoter !
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds | Journal of Human Immunity | Rockefeller University Press
We report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds with
rupress.org
October 30, 2025 at 2:16 PM
Don't forget sequencing the promoter !
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
A fascinating genetic and mechanistic study:
ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH url: rupress.org/jhi/article/...
ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH url: rupress.org/jhi/article/...
ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH | Journal of Human Immunity | Rockefeller University Press
A novel mutation in ORAI1 results in constitutive CRAC channel activation while abolishing stimulation-induced channel opening. The mutation is associated
rupress.org
October 30, 2025 at 2:15 PM
A fascinating genetic and mechanistic study:
ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH url: rupress.org/jhi/article/...
ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH url: rupress.org/jhi/article/...
Have you considered submitting a paper to @jhumimmunity.org ?
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
Human immunity | Journal of Human Immunity | Rockefeller University Press
Human immunity is often insufficient against infectious agents and sometimes over-reactive to innocuous components of the environment or the human body. Ge
rupress.org
October 26, 2025 at 8:09 AM
Have you considered submitting a paper to @jhumimmunity.org ?
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
covidhge.com has had a great ride and it's only been the beginning !
The seven enigmas of SARS-CoV-2: From the past to the future url: rupress.org/jhi/article/...
The seven enigmas of SARS-CoV-2: From the past to the future url: rupress.org/jhi/article/...
The seven enigmas of SARS-CoV-2: From the past to the future | Journal of Human Immunity | Rockefeller University Press
Andreakos et al. report the progress of the COVID Human Genetic Effort since its launch 5 years ago, with the aim to understand clinical variability, from
rupress.org
October 26, 2025 at 8:04 AM
covidhge.com has had a great ride and it's only been the beginning !
The seven enigmas of SARS-CoV-2: From the past to the future url: rupress.org/jhi/article/...
The seven enigmas of SARS-CoV-2: From the past to the future url: rupress.org/jhi/article/...
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases | Journal of Human Immunity | Rockefeller University Press
Autoantibodies neutralizing antiviral type I IFNs (AAN-I-IFN) underlie a small but growing number of severe arboviral diseases. These auto-Abs are strong,
rupress.org
October 26, 2025 at 8:02 AM
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...
A heterozygous USB1 variant linked to immunodeficiency url: rupress.org/jhi/article/...
A heterozygous USB1 variant linked to immunodeficiency | Journal of Human Immunity | Rockefeller University Press
This study identifies a novel heterozygous USB1 variant (p.P44L) in a patient with hypogammaglobulinemia and low neutrophil counts, showing altered protein
rupress.org
October 26, 2025 at 8:01 AM
A heterozygous USB1 variant linked to immunodeficiency url: rupress.org/jhi/article/...
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations url: rupress.org/jhi/article/...
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations | Journal of Human Immunity | Rockefeller University Press
Noninfectious manifestations of CVID have not been formally summarized. This systematic literature review provides a comprehensive summary as a reference p
rupress.org
October 26, 2025 at 8:01 AM
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations url: rupress.org/jhi/article/...
Reposted by Casanova Lab
#Medsky🧪 #IDSky #immunosky #publichealth
@casanovalab.bsky.social @petterbrodin.bsky.social et al
A global effort to define the human genetics of protective immunity to #SARSCoV2 infection & the clinical variability among #COVID- exposed individuals.
@casanovalab.bsky.social @petterbrodin.bsky.social et al
A global effort to define the human genetics of protective immunity to #SARSCoV2 infection & the clinical variability among #COVID- exposed individuals.
In this review, Andreakos et al. report the progress of the COVID Human Genetic Effort since its launch 5 years ago, with the aim to understand clinical variability, from resistance to severe outcomes, among individuals exposed to #SARSCoV2. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
October 24, 2025 at 5:00 PM
#Medsky🧪 #IDSky #immunosky #publichealth
@casanovalab.bsky.social @petterbrodin.bsky.social et al
A global effort to define the human genetics of protective immunity to #SARSCoV2 infection & the clinical variability among #COVID- exposed individuals.
@casanovalab.bsky.social @petterbrodin.bsky.social et al
A global effort to define the human genetics of protective immunity to #SARSCoV2 infection & the clinical variability among #COVID- exposed individuals.
Reposted by Casanova Lab
In this review, Andreakos et al. report the progress of the COVID Human Genetic Effort since its launch 5 years ago, with the aim to understand clinical variability, from resistance to severe outcomes, among individuals exposed to #SARSCoV2. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
October 24, 2025 at 4:32 PM
In this review, Andreakos et al. report the progress of the COVID Human Genetic Effort since its launch 5 years ago, with the aim to understand clinical variability, from resistance to severe outcomes, among individuals exposed to #SARSCoV2. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
A Review of auto-Abs neutralizing type I IFN in patients with arboviral diseases:
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases | Journal of Human Immunity | Rockefeller University Press
Autoantibodies neutralizing antiviral type I IFNs (AAN-I-IFN) underlie a small but growing number of severe arboviral diseases. These auto-Abs are strong,
rupress.org
October 24, 2025 at 1:19 PM
A Review of auto-Abs neutralizing type I IFN in patients with arboviral diseases:
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...