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
1/ Join us on 24 Sept 2025 at the @InstitutImagine in Paris for the Novo Nordisk Prize Symposium: Inborn Errors of Immunity. Registration is free at:
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A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease
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RT @Lo_Zanzi: #InterferonPower! Thrilled for our latest work @CellCellPress! With @dfrboehmer, we dug into tons of papers & created what we….
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Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency
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RT @BogunovicLab: Published today. Our review on Incomplete Penetrance. Four governing principles. Details here. 👇🏼@Columbia @KidsAtColumbi….
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A MUST-READ Review on Penetrance of Human Monogenic Inborn Errors (of Immunity, or not):.Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel
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Disseminated gonococcal infection secondary to a rare homozygous mutation resulting in complement factor I deficiency
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RT @IsabelleMeyts: PhD position opening in my lab! Grab your chance to dive into the genetics and pathophysiology of inborn errors of immun….
kuleuven.be
PhD Position in Inborn Errors of Immunity
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RT @ASIDSociety: It's a pleasure to announce the new ASID Board for the 2025 - 2027 term 🥳. This diverse group of leaders from across Afri….
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RT @jhumimmunity: Ian Lamborn, Helen Su et al. @NIAIDNews review MAGIS clinical features, current genetic and biochemical understanding, an….
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A superb Review on a new syndromic IEI, due to GOF mutations in G protein-encoding GNAI2:. MAGIS syndrome: Phenotypes, pathogenesis, and treatment
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RT @casanova_lab: 1/ Join us on 24 Sept 2025 at the @InstitutImagine in Paris for the Novo Nordisk Prize Symposium: Inborn Errors of Immuni….
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RT @jhumimmunity: Tobin and Cooper review #InbornErrorsOfImmunity that can present with rheumatologic and #autoimmune complications and the….
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RT @jhumimmunity: New Perspective article from @TimothyBuckey and Jennifer Heimall @ChildrensPhila describes the #ethical #dilemmas encount….
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RT @jhumimmunity: Thalhammer, Frey, Schäfer @unifreiburg et al. identify a large, previously unknown deletion of 12 protein-coding genes in….
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RT @jhumimmunity: Marat Kribis, Carrie Lucas et al. @YaleIBIO report a patient with recurrent respiratory infections and bronchiectasis due….
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Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis
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Exciting paper !.Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
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Non-cryopreserved Kx negative packed red cell concentrates to support hematopoietic stem cell transplantation in McLeod contiguous gene deletion syndrome
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A monumental paper !!.
Latest from us. Universal antiviral made! How? Transient gene therapy. Which genes? Only 10 suffice, out of thousands of antiviral host genes. How did we choose? Got inspired by patients and gene promoters. Read in detail 👇🏼
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RT @jhumimmunity: 22q11.2 deletion syndrome causes thymic hypoplasia. In an embryonic mouse model, Bhalla, van Oers et al. @UTSWMedCenter s….
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