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casanovalab.bsky.social
Casanova Lab
@casanovalab.bsky.social
910 followers 240 following 340 posts
We're a research lab at Rockefeller University (NY) and Necker Hospital (Paris) studying human genetic and immunological determinants of infectious diseases.
https://www.hgid.org/
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casanovalab.bsky.social
Casanova Lab @casanovalab.bsky.social · 12d
1/ We’re seeking Sponsors for the 3rd International Symposium on Inborn Errors of Immunity (IEI), and their phenocopies, to be held in Lofoten, Norway, in June 2027.
www.hgid.org/collaborativ...
Reposted by Casanova Lab
macattacklab.bsky.social
I can’t think of a better inaugural “How I Treat” for this new @jhumimmunity.org series - expert guidance from Alexandra Freeman, Beth Thielen, and Tamara Pozos on a topic relevant for all clinical immunologists - prevention and treatment of infection #inbornerrorsofimmunity @clinimmsoc.bsky.social
jhumimmunity.org Journal of Human Immunity @jhumimmunity.org · 20d
Freeman, Thielen @thie0149.bsky.social and Pozos provide practical advice on prevention, diagnosis, and management of infections in #InbornErrorsOfImmunity as well as management of common complications such as bronchiectasis. rupress.org/jhi/article/...

#HowITreat
@clinimmsoc.bsky.social
December 21, 2025 at 4:43 PM
Reposted by Casanova Lab
jhumimmunity.org
🔔 We're pleased to share the abstracts from the Latin American Society for Immunodeficiencies Meeting 2025 @lasidofficial.bsky.social, which took place October 15–18, in Buenos Aires. Explore the latest advancements and insights in immunodeficiencies 👉 rupress.org/jhi/issue/1/...
December 23, 2025 at 3:15 PM
Reposted by Casanova Lab
jhumimmunity.org
#HowITreat: Infections and #InbornErrorsOfImmunity—Prevention, diagnosis, and treatment. New practical advice from Alexandra Freeman @niaidnews.bsky.social, Beth Thielen @thie0149.bsky.social, and Tamara Pozos @childrensminnesota.bsky.social: rupress.org/jhi/article/...

@clinimmsoc.bsky.social
December 23, 2025 at 4:30 PM
Reposted by Casanova Lab
jhumimmunity.org
Neurodevelopmental outcomes following hematopoietic cell transplantation for patients with severe combined immunodeficiency: A PIDTC study. From Virdette L. Brumm @ucsfchildrens.bsky.social, Ami J. Shah @stanfordmedicine.bsky.social and colleagues: rupress.org/jhi/article/...

#SCID
December 24, 2025 at 7:30 PM
Reposted by Casanova Lab
jhumimmunity.org
Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India. New study from Aparna Dalvi, Manisha Madkaikar (Indian Council of Medical Research National Institute of Immunohaematology) and colleagues: rupress.org/jhi/article/...

#Infections #Autoantibodies
December 25, 2025 at 2:30 PM
Reposted by Casanova Lab
esidsociety.bsky.social
One of the most read articles this year in the Journal of Human Immunity @jhumimmunity.org is the 30-year ESID Registry study analysing data of 30,628 patients. If you missed it earlier this year, get back to the paper today on ➡️ bit.ly/3MQtIZA
December 30, 2025 at 8:59 AM
casanovalab.bsky.social
Dick Gatti was a giant, who will be sorely missed:
In Memoriam: Richard A. Gatti, MD (1937–2025) url: rupress.org/jhi/article/...
In Memoriam: Richard A. Gatti, MD (1937–2025) | Journal of Human Immunity | Rockefeller University Press
Remembering Richard A. Gatti, MD, a pioneer of clinical immunology and hematopoietic stem cell transplantation, whose landmark contributions—from the first
rupress.org
December 30, 2025 at 5:33 PM
Reposted by Casanova Lab
jhumimmunity.org
As 2025 wraps up, we're proud to celebrate the inaugural year of the Journal of Human Immunity (JHI)! 🎉 Here are our 5 most-read articles so far 👇🧬
December 29, 2025 at 3:46 PM
casanovalab.bsky.social
Viral infection and brain inflammation with seizures in PARK7 deficiency url: rupress.org/jhi/article/...
Viral infection and brain inflammation with seizures in PARK7 deficiency | Journal of Human Immunity | Rockefeller University Press
Here, Lønskov et al. describe a child homozygous for a deleterious variant in PARK7/DJ-1 presenting with RSV infection, brain inflammation, and seizures an
rupress.org
December 26, 2025 at 8:26 PM
casanovalab.bsky.social
Markers of immune dysregulation in pediatric patients with severe bronchiolitis url: rupress.org/jhi/article/...
Markers of immune dysregulation in pediatric patients with severe bronchiolitis | Journal of Human Immunity | Rockefeller University Press
Children with bronchiolitis exhibit a unique immunophenotype. We identify a significant difference in plasmacytoid dendritic cells and eosinophils in hospi
rupress.org
December 26, 2025 at 8:26 PM
casanovalab.bsky.social
Immune dysregulation from a novel CTLA-4 haploinsufficiency variant url: rupress.org/jhi/article/...
Immune dysregulation from a novel CTLA-4 haploinsufficiency variant | Journal of Human Immunity | Rockefeller University Press
We describe a novel CTLA-4 p.Tyr218* variant associated with immune dysregulation across four generations. The mutation truncates the cytoplasmic tail, red
rupress.org
December 26, 2025 at 8:25 PM
casanovalab.bsky.social
Good? A very long COVID-19 url: rupress.org/jhi/article/...
Good? A very long COVID-19 | Journal of Human Immunity | Rockefeller University Press
We report a case of chronic pulmonary SARS-CoV2 infection caused by impaired B cell–mediated immunity to SARS-CoV-2 in a patient with Good syndrome. Immuno
rupress.org
December 26, 2025 at 8:25 PM
casanovalab.bsky.social
1/ We’re seeking Sponsors for the 3rd International Symposium on Inborn Errors of Immunity (IEI), and their phenocopies, to be held in Lofoten, Norway, in June 2027.
www.hgid.org/collaborativ...
December 24, 2025 at 5:01 PM
Reposted by Casanova Lab
jhumimmunity.org
Yulia Rodina et al. explore the use of #emapalumab, an interferon gamma inhibitor, in seven children with primary hemophagocytic lymphohistiocytosis. rupress.org/jhi/article/...

#Therapeutics #hemophagocytosis
December 11, 2025 at 4:47 PM
Reposted by Casanova Lab
jhumimmunity.org
ICF syndrome: An epigenetic paradigm of primary immunodeficiencies. New review from Ricardo Martins-Ferreira and Esteban Ballestar @eballestar.bsky.social @carrerasijc.bsky.social: rupress.org/jhi/article/...

#InbornErrorsOfImmunity #SevereImmunodeficiencies #BcellDeficiencies #SystemsImmunology
December 12, 2025 at 2:45 PM
Reposted by Casanova Lab
jhumimmunity.org
In new report, Wang, Freeman et al. summarize the clinical phenotypes, immunologic findings, treatment, and outcomes of 10 patients with Phosphoglucomutase-3 (PGM3) deficiency rupress.org/jhi/article/...

@clinimmsoc.bsky.social
December 12, 2025 at 5:15 PM
Reposted by Casanova Lab
jhumimmunity.org
Clinical experience with #emapalumab treatment in a group of children with primary hemophagocytic lymphohistiocytosis. A new study from Yulia Rodina et al.: rupress.org/jhi/article/...

#Therapeutics #Hemophagocytosis
December 18, 2025 at 2:52 PM
Reposted by Casanova Lab
jhumimmunity.org
Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency. New research letter from Chen Wang, Alexandra Freeman and colleagues @niaidnews.bsky.social: rupress.org/jhi/article/...

#Autoimmunity #Atopy #ClinicalPhenotypes #InbornErrorsOfImmunity
@clinimmsoc.bsky.social
Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency | Journal of Human Immunity | Rockefeller University Press
PGM3 deficiency is a multisystem disorder characterized by recurrent infections, chronic severe neutropenia, and virus-associated malignancies, often leadi
rupress.org
December 19, 2025 at 2:45 PM
Reposted by Casanova Lab
jem.org
Qian Zhang et al. @casanovalab.bsky.social report a fatal case of avian influenza #H5N1 infection and describe that the presence of AAN-I-IFN may facilitate infection, replication, and adaptation of zoonotic IAVs to humans and, therefore, human-to-human transmission. rupress.org/jem/article/...
December 19, 2025 at 2:30 PM
Reposted by Casanova Lab
jem.org
New study from Gervais, Cobat, @casanovalab.bsky.social, Jouanguy @hopitalnecker.bsky.social and colleagues highlights auto-Abs against type I IFNs as a major determinant of HSV-FVH and paves the way for targeted preventive or therapeutic interventions. rupress.org/jem/article/...

#Autoimmunity
December 19, 2025 at 2:15 PM
Reposted by Casanova Lab
jem.org
Does fever drive the #evolution of antiviral genes? A new Perspective by Ryan Langlois @langloislab.bsky.social: rupress.org/jem/article/...

#InfectiousDisease #HostDefense #Virology
December 18, 2025 at 3:45 PM
Reposted by Casanova Lab
rupress.org
@jhumimmunity.org: Dalvi et al describe 50 Indian patients w Mendelian susceptibility to mycobacterial disease, highlighting its clinical diversity & genetic heterogeneity. Immunological assays, flow cytometry & genetic testing aid diagnosis & targeted clinical management rupress.org/jhi/article/...
December 18, 2025 at 6:45 PM
Reposted by Casanova Lab
jhumimmunity.org
Dalvi, Madkaikar et al. describe 50 Indian patients w/ Mendelian susceptibility to #mycobacterial disease, highlighting its clinical diversity & genetic heterogeneity. Immunological assays, flow cytometry & genetic testing aid diagnosis & targeted clinical management rupress.org/jhi/article/...
December 18, 2025 at 5:01 PM
Reposted by Casanova Lab
jhumimmunity.org
Brumm, Shah et al. evaluated 69 subjects with #SCID to assess the neurodevelopmental outcomes following HCT. Compared with the normative population, our subjects performed in the average range. There was no impact of newborn screening, conditioning, or genotype. rupress.org/jhi/article/...
December 18, 2025 at 5:02 PM
Reposted by Casanova Lab
benhale.bsky.social
Nice to see our study led by Kevin Groen included in the 2025 ‘Best of JEM’. We dissected the mechanisms by which pathogenic autoantibodies block IFN-I function and used the information to design decoy molecules that might form the basis for future therapies.

rupress.org/jem/article/...
December 17, 2025 at 10:13 PM