Casanova Lab

Now on PubMed:
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging url: rupress.org/jhi/article/...

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

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

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/...

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/...

Have you considered submitting a paper to @jhumimmunity.org ?

To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...

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

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

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/...

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

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 fascinating genetic and mechanistic study:

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/...

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/...

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 systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations url: rupress.org/jhi/article/...

#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.

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

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/...

Gervais, @esibor.bsky.social, @casanovalab.bsky.social, and Zhang review how #autoantibodies neutralizing antiviral type I IFNs underlie a small but growing number of severe #arboviral diseases. Genetic defects of type I IFN immunity may underlie other unexplained cases. rupress.org/jhi/article/...

A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure - Genome Medicine Background Despite sustained exposure to Mycobacterium tuberculosis (Mtb), some individuals—so-called resisters—have persistently negative results for the tuberculin skin test (TST) and interferon-gam...

We report a 5'UTR variant in YEATS4 that confers resistance to tuberculosis through altering the translation of the YEATS4 open-reading frame! Congrats to Clement Conil and colleagues at @casanovalab.bsky.social! It was fun to help with this story! link.springer.com/article/10.1...

Another exciting collaborative paper in the @jhumimmunity.org:

Two different forms of inherited human TCRα chain deficiency url: rupress.org/jhi/article/...

A novel heterozygous pathogenic AIRE variant causing #autoimmunity but not infectious susceptibility. New study from Mounavi Vemula, Alberto Pinzon-Charry (Children's Health Queensland) & colleagues: rupress.org/jhi/article/...

@anne-puel.bsky.social @casanovalab.bsky.social
#InbornErrorsOfImmunity

A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility url: rupress.org/jhi/article/...

Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients | Journal of Human Immunity | Rockefeller University Press This epidemiological study describes CGD in Latin America. It highlights high infection risks, limited treatment options, and poor survival rates, especial

This epidemiological study of #CGD in Latin America by Tiago Santos de Oliveira, Antonio Condino-Neto et al. emphasizes the need for better diagnosis, newborn screening, regional treatment guidelines, & expanded access to effective therapies rupress.org/jhi/article/...

@lasidofficial.bsky.social

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset. A new Research Letter from Tahereh Noori, Aaqib Zaffar Banday, Ilia Voskoboinik et al. rupress.org/jhi/article/...

🎥 See short video summary: youtu.be/cYSBIU0lh6U

#Immunodeficiency

Last Friday members of our NY lab braved the chilly fall weather to lunch on Bánh Mì al fresco. This HGID crew is a hardy bunch that doesn’t let much stand in their way!

In @jhumimmunity.org, Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals w/ mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. rupress.org/jhi/article/...

Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals with mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. rupress.org/jhi/article/...

#Autoimmunity