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
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
In less than 8 months, @jhumimmunity has published 56 papers (rupress.org/jhi), including 10 already on PubMed (pubmed.ncbi.nlm.nih.gov?term=j+hum+i...). Please submit studies of human inborn errors of immunity and their phenocopies (rupress.org/jhi/article-...) !
Reposted by Casanova Lab
USIDNET is an important effort and resource that will enable us to better identify clinical features of inborn errors of immunity and the complications and treatment approaches that are important for us to care for patients. Congratulations to the team at CHOP leading this!
Vichare, Sullivan et al. assessed the United States Immunodeficiency Network (USIDNET), a suite of resources for clinical immunologists. The registry of patient data utilizes data extraction from electronic health records to minimize burden on participating sites. rupress.org/jhi/article/...
November 21, 2025 at 2:09 AM
USIDNET is an important effort and resource that will enable us to better identify clinical features of inborn errors of immunity and the complications and treatment approaches that are important for us to care for patients. Congratulations to the team at CHOP leading this!
Reposted by Casanova Lab
New review from Voyer, @casanovalab.bsky.social, & @anne-puel.bsky.social synthesizes human inborn errors of the alternative NF-κB pathway, highlighting their shared and distinct effects on lymphoid development, immune dysregulation, and mTEC-mediated tolerance rupress.org/jhi/article/...
November 21, 2025 at 5:00 PM
New review from Voyer, @casanovalab.bsky.social, & @anne-puel.bsky.social synthesizes human inborn errors of the alternative NF-κB pathway, highlighting their shared and distinct effects on lymphoid development, immune dysregulation, and mTEC-mediated tolerance rupress.org/jhi/article/...
Human inborn errors of the alternative NF-κB pathway url: rupress.org/jhi/article/...
Human inborn errors of the alternative NF-κB pathway | Journal of Human Immunity | Rockefeller University Press
This review synthesizes human inborn errors of the alternative NF-κB pathway-affecting core components, upstream ligands/receptors, or regulators, or regul
rupress.org
November 21, 2025 at 3:43 PM
Human inborn errors of the alternative NF-κB pathway url: rupress.org/jhi/article/...
Automated data extraction model for the USIDNET registry: Bigger, faster, and better data collection url: rupress.org/jhi/article/...
Automated data extraction model for the USIDNET registry: Bigger, faster, and better data collection | Journal of Human Immunity | Rockefeller University Press
USIDNET is a suite of resources for clinical immunologists. The registry of patient data utilizes data extraction from electronic health records to minimiz
rupress.org
November 20, 2025 at 7:38 AM
Automated data extraction model for the USIDNET registry: Bigger, faster, and better data collection url: rupress.org/jhi/article/...
Not all homozygous stops in the Pre-TCRalpha gene are disease-causing !
Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic url: rupress.org/jhi/article/...
Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic url: rupress.org/jhi/article/...
Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic | Journal of Human Immunity | Rockefeller University Press
We identified six individuals with homozygous truncating variants in the pre-TCRα intracellular tail, revealing hypomorphic and neutral alleles. Functional
rupress.org
November 20, 2025 at 7:37 AM
Not all homozygous stops in the Pre-TCRalpha gene are disease-causing !
Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic url: rupress.org/jhi/article/...
Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic url: rupress.org/jhi/article/...
Heterozygous PSMB10 variants in patients with T cell deficiency:
Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease url: rupress.org/jhi/article/...
Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease url: rupress.org/jhi/article/...
Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease | Journal of Human Immunity | Rockefeller University Press
Novel dominant PSMB10 variants cause severe combined immunodeficiency and life-threatening liver disease in three pediatric patients. These mutations impai
rupress.org
November 20, 2025 at 7:36 AM
Heterozygous PSMB10 variants in patients with T cell deficiency:
Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease url: rupress.org/jhi/article/...
Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease url: rupress.org/jhi/article/...
A PIK3delta inhibitor for ALPS:
Leniolisib reduced lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome url: rupress.org/jhi/article/...
Leniolisib reduced lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome url: rupress.org/jhi/article/...
Leniolisib reduced lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome | Journal of Human Immunity | Rockefeller University Press
Treating patients with ALPS can be challenging. This article examines the efficacy of leniolisib, a selective PI3Kδ inhibitor, in a murine model of ALPS, i
rupress.org
November 20, 2025 at 7:34 AM
A PIK3delta inhibitor for ALPS:
Leniolisib reduced lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome url: rupress.org/jhi/article/...
Leniolisib reduced lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome url: rupress.org/jhi/article/...
Reposted by Casanova Lab
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
October 31, 2025 at 6:45 PM
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
Reposted by Casanova Lab
JHI's November issue is here! rupress.org/jhi/issue/1/4
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
November 3, 2025 at 3:04 PM
JHI's November issue is here! rupress.org/jhi/issue/1/4
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
Reposted by Casanova Lab
Retrospective study from Gilbert, Ong, Farmer et al. highlights that acute use of nirmatrelvir/ritonavir significantly reduces the risk of post-acute sequelae of #SARSCoV2 infection (#longCOVID) in immunodeficient patients. rupress.org/jhi/article/...
#InbornErrorsOfImmunity #COVID19
#InbornErrorsOfImmunity #COVID19
November 4, 2025 at 5:00 PM
Retrospective study from Gilbert, Ong, Farmer et al. highlights that acute use of nirmatrelvir/ritonavir significantly reduces the risk of post-acute sequelae of #SARSCoV2 infection (#longCOVID) in immunodeficient patients. rupress.org/jhi/article/...
#InbornErrorsOfImmunity #COVID19
#InbornErrorsOfImmunity #COVID19
Reposted by Casanova Lab
A 𝘞𝘈𝘚 promoter variant underlying Wiskott-Aldrich syndrome in two kindreds. New report from Pauline Ober, Christelle Lenoir, Jérémie Rosain @jrosain.bsky.social and collegues @upcite.bsky.social @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
November 6, 2025 at 2:31 PM
A 𝘞𝘈𝘚 promoter variant underlying Wiskott-Aldrich syndrome in two kindreds. New report from Pauline Ober, Christelle Lenoir, Jérémie Rosain @jrosain.bsky.social and collegues @upcite.bsky.social @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
Reposted by Casanova Lab
The systemic effects of 22q11.2 deletion syndrome on immunity. New review from Nicolai van Oers (UT Southwestern) and Kathleen Sullivan (@childrensphila.bsky.social): rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
November 6, 2025 at 3:45 PM
The systemic effects of 22q11.2 deletion syndrome on immunity. New review from Nicolai van Oers (UT Southwestern) and Kathleen Sullivan (@childrensphila.bsky.social): rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
Reposted by Casanova Lab
ORAI1 mutation with mixed loss- and gain-of-function properties causes #immunodeficiency and HLH, say Lucile Noyer (@Lucilenoyer.bsky.social) , Stefan Feske (@stefanfeske.bsky.social) and colleagues (NYU Grossman School of Medicine): rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
November 6, 2025 at 7:45 PM
ORAI1 mutation with mixed loss- and gain-of-function properties causes #immunodeficiency and HLH, say Lucile Noyer (@Lucilenoyer.bsky.social) , Stefan Feske (@stefanfeske.bsky.social) and colleagues (NYU Grossman School of Medicine): rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
Reposted by Casanova Lab
See a short video summary of the study by Kristine Jeganathan: youtu.be/7Kut4zWWTuk
Early identification of delayed-onset ADA deficiency: Case for expanded first-tier newborn screening
YouTube video by Journal of Human Immunity
youtu.be
November 10, 2025 at 9:37 PM
See a short video summary of the study by Kristine Jeganathan: youtu.be/7Kut4zWWTuk
Reposted by Casanova Lab
The authors advocate integrating MS/MS purine profiling into first-tier screening to enable early diagnosis and timely curative treatment.
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
November 10, 2025 at 5:00 PM
The authors advocate integrating MS/MS purine profiling into first-tier screening to enable early diagnosis and timely curative treatment.
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
Reposted by Casanova Lab
Jeganathan, Pham-Huy et al. @uottawa.ca report that standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. But retrospective MS/MS analysis showed diagnostic deoxyadenosine elevation at birth. rupress.org/jhi/article/...
November 10, 2025 at 5:00 PM
Jeganathan, Pham-Huy et al. @uottawa.ca report that standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. But retrospective MS/MS analysis showed diagnostic deoxyadenosine elevation at birth. rupress.org/jhi/article/...
Reposted by Casanova Lab
Nirmatrelvir/ritonavir use reduces risk for #longCOVID in patients with #immunodeficiency. New study from Karen Gilbert, Mei-Sing Ong, Jocelyn Farmer (Lahey Hospital) and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #COVID19 #SARSCoV2
#InbornErrorsOfImmunity #COVID19 #SARSCoV2
November 11, 2025 at 3:45 PM
Nirmatrelvir/ritonavir use reduces risk for #longCOVID in patients with #immunodeficiency. New study from Karen Gilbert, Mei-Sing Ong, Jocelyn Farmer (Lahey Hospital) and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #COVID19 #SARSCoV2
#InbornErrorsOfImmunity #COVID19 #SARSCoV2
Reposted by Casanova Lab
Ünal, Dublanc, Bustamante, @jrosain.bsky.social et al. @hopitalnecker.bsky.social report two patients with Whipple’s disease caused by autosomal dominant IRF4 deficiency. rupress.org/jhi/article/...
@esidsociety.bsky.social
#InbornErrorsOfImmunity
@esidsociety.bsky.social
#InbornErrorsOfImmunity
November 11, 2025 at 5:02 PM
Ünal, Dublanc, Bustamante, @jrosain.bsky.social et al. @hopitalnecker.bsky.social report two patients with Whipple’s disease caused by autosomal dominant IRF4 deficiency. rupress.org/jhi/article/...
@esidsociety.bsky.social
#InbornErrorsOfImmunity
@esidsociety.bsky.social
#InbornErrorsOfImmunity
Reposted by Casanova Lab
See a short video summary of the study by Kristine Jeganathan: youtu.be/7Kut4zWWTuk
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Enjoy the videos and music you love, upload original content, and share it all with friends, family, and the world on YouTube.
youtu.be
November 17, 2025 at 3:15 PM
See a short video summary of the study by Kristine Jeganathan: youtu.be/7Kut4zWWTuk
Reposted by Casanova Lab
Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening. New report from Kristine Jeganathan, Anne Pham-Huy and colleagues (Children’s Hospital of Eastern Ontario @uottawa.ca): rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening | Journal of Human Immunity | Rockefeller University Press
Standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. Retrospective mass sp
rupress.org
November 17, 2025 at 3:15 PM
Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening. New report from Kristine Jeganathan, Anne Pham-Huy and colleagues (Children’s Hospital of Eastern Ontario @uottawa.ca): rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
Reposted by Casanova Lab
New study from Hassan et al. examines the efficacy of leniolisib, a selective PI3Kδ inhibitor, in a murine model of ALPS, illustrating a reduction in lymphoproliferation and disease-associated biomarkers such as elevated double-negative T cells. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
November 17, 2025 at 5:00 PM
New study from Hassan et al. examines the efficacy of leniolisib, a selective PI3Kδ inhibitor, in a murine model of ALPS, illustrating a reduction in lymphoproliferation and disease-associated biomarkers such as elevated double-negative T cells. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
Reposted by Casanova Lab
IRF4 haploinsufficiency in a multiplex family with Whipple's disease. New report from Sinem Ünal, Stéphanie Dublanc, Jacinta Bustamante, Jérémie Rosain (@jrosain.bsky.social) and colleagues @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
November 18, 2025 at 2:45 PM
IRF4 haploinsufficiency in a multiplex family with Whipple's disease. New report from Sinem Ünal, Stéphanie Dublanc, Jacinta Bustamante, Jérémie Rosain (@jrosain.bsky.social) and colleagues @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
Reposted by Casanova Lab
Fournier @hopitalnecker.bsky.social, Poirier, Ebstein et al. report that novel dominant PSMB10 variants cause severe combined immunodeficiency and life-threatening liver disease in three pediatric patients. rupress.org/jhi/article/...
#InbornErrorsOfImmunity #SevereImmunodeficiencies
#InbornErrorsOfImmunity #SevereImmunodeficiencies
November 18, 2025 at 5:01 PM
Fournier @hopitalnecker.bsky.social, Poirier, Ebstein et al. report that novel dominant PSMB10 variants cause severe combined immunodeficiency and life-threatening liver disease in three pediatric patients. rupress.org/jhi/article/...
#InbornErrorsOfImmunity #SevereImmunodeficiencies
#InbornErrorsOfImmunity #SevereImmunodeficiencies
Reposted by Casanova Lab
In a new research letter, Materna, @vbeziat.bsky.social et al. identified six individuals with homozygous truncating variants in the pre-TCRα intracellular tail, revealing hypomorphic and neutral alleles. rupress.org/jhi/article/...
@casanovalab.bsky.social
@esidsociety.bsky.social
@casanovalab.bsky.social
@esidsociety.bsky.social
November 19, 2025 at 5:01 PM
In a new research letter, Materna, @vbeziat.bsky.social et al. identified six individuals with homozygous truncating variants in the pre-TCRα intracellular tail, revealing hypomorphic and neutral alleles. rupress.org/jhi/article/...
@casanovalab.bsky.social
@esidsociety.bsky.social
@casanovalab.bsky.social
@esidsociety.bsky.social
In less than 8 months, @jhumimmunity has published 56 papers (rupress.org/jhi), including 10 already on PubMed (pubmed.ncbi.nlm.nih.gov?term=j+hum+i...). Please submit studies of human inborn errors of immunity and their phenocopies (rupress.org/jhi/article-...) !
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
November 11, 2025 at 3:47 PM
In less than 8 months, @jhumimmunity has published 56 papers (rupress.org/jhi), including 10 already on PubMed (pubmed.ncbi.nlm.nih.gov?term=j+hum+i...). Please submit studies of human inborn errors of immunity and their phenocopies (rupress.org/jhi/article-...) !