Casanova Lab

Thank you ! Experiments of Nature are the best, whatever we can say or think …

Human LFA-1 governs T cell immune surveillance of the skin Human inherited integrin αL (CD11a) deficiency selectively impairs skin homing of T cells and surveillance of commensal papillomaviruses.

Love this kind of science. Human integrin LFA-1 considered important for T cell skin homing. But how important is it really?

Looking at genetic deficient individuals, turns out LFA-1 essential for clearing commensal papillomaviruses, but redundant for most else! @casanovalab.bsky.social #ImmunoSky

Human LFA-1 governs T cell immune surveillance of the skin Human inherited integrin αL (CD11a) deficiency selectively impairs skin homing of T cells and surveillance of commensal papillomaviruses.

Human inherited integrin αL deficiency selectively impairs skin homing of T cells and surveillance of commensal papillomaviruses @sciimmunology.bsky.social
www.science.org/doi/10.1126/... @casanovalab.bsky.social

TLR7 mutations leading to enhanced TLR7 signaling in humans Three studies in this issue of JHI extend our understanding of the genetic, molecular, and clinical characteristics of human disease associated with a gain

This is the first News & Views of @jhumimmunity.org and it is a must-read !
TLR7 mutations leading to enhanced TLR7 signaling in humans url: rupress.org/jhi/article/...

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus Sethumadhavan, Mariasoosai, Yamakawa et al. report a novel TLR7 gain-of-function (GOF) variant associated with autoimmunity in a male patient, which furthe

Another TLR7 GOF:
Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus url: rupress.org/jhi/article/...

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis Human ISG15 deficiency is a monogenic syndrome that poises individuals to a proapoptotic and profibrotic state that can lead to lung and skin damage with s

The latest episode of the human ISG15 saga:

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis url: rupress.org/jhi/article/...

Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C Lyytikäinen et al. report two novel assays to characterize T cell function in two patients with DCLRE1C variants diagnosed with leaky SCID. The cell divisi

Important methodological improvement for patients with some forms of SCID:
Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C url: rupress.org/jhi/article/...

Expanding the scope of human immunology in the Journal of Human Immunity. New Editorial from Petter Brodin @petterbrodin.bsky.social, Megan Cooper @macattacklab.bsky.social, Jean-Laurent Casanova @casanovalab.bsky.social, and colleagues in the JHI Editorial team:

Quality of life of X-linked agammaglobulinemia patients in the United Kingdom Assessment of UK XLA patients reveals that bronchiectasis, present in the majority of adults, is strongly associated with diminished quality of life. Witho

Quality paper for an international readership !
Quality of life of X-linked agammaglobulinemia patients in the United Kingdom url: rupress.org/jhi/article/...

The early history of the ESID registry The history of the ESID registry is described with the help of original documents of the precursor EGID going back to 1994.

The early history of the ESID registry url: rupress.org/jhi/article/...

Inborn errors of immunity at school: How can we do better? Adolescents with inborn errors of immunity face school challenges across adaptation, understanding, coordination, and socialization. In a multi-informant s

Important and neglected topic:
Inborn errors of immunity at school: How can we do better? url: rupress.org/jhi/article/...

Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency Ebens et al. demonstrate successful allogeneic hematopoietic cell transplant of CD40L deficiency using an asymptomatic carrier mother donor, with achieveme

The title tells it all:
Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency url: rupress.org/jhi/article/...

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova (@casanovalab.bsky.social) shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...

Severe pulmonary involvement and elevated interferon-stimulated genes expression in two siblings with a novel C1QB pathogenic variant. New report from Clément Triaille, Hugo Chapdelaine and colleagues @chumontreal.bsky.social @chusaintejustine.bsky.social: rupress.org/jhi/article/...
#Autoimmunity

Autoinflammatory disease and severe neutropenia due to de novo mutation of PSTPIP1 with increased binding to pyrin. New report from Sarah Cook, Christopher Chang (Joe DiMaggio Children’s Hospital), Janet Markle @vanderbilt.edu and colleagues: rupress.org/jhi/article/...

@clinimmsoc.bsky.social

X-linked MCTS1 deficiency causes susceptibility to mycobacterial disease. Zhou, Bustamante, Bohlen et al. show that report 4 new patients carrying 3 previously undescribed truncating or loss-of-expression variants, presenting w/ BCG disease or M. abscessus infection. rupress.org/jhi/article/...

Takeuchi, Okada et al. report that hemorrhage detected on imaging may predict poor outcomes in acute necrotizing encephalopathy associated with #COVID19 and that RANBP2 mutations could contribute to disease susceptibility. rupress.org/jhi/article/...
#InfectiousDiseases #PopulationGenetics #SarsCoV2

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...

Duintjer, Blom et al. @unileiden.bsky.social present clinical follow-up data of 6.5 years of #NewbornScreening for #SCID, underscoring the importance of preventing overtreatment and avoiding unnecessary prolonged follow-up. rupress.org/jhi/article/...

#Diagnostics #Immunodeficiencies

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease. New study by Qinhua Zhou (Fudan University), Jacinta Bustamante @institutimagine.bsky.social, Jonathan Bohlen @jonathanbohlen.bsky.social @lmumuenchen.bsky.social & colleagues rupress.org/jhi/article/...

Guarnieri, Elfeky et al. @greatormondst.bsky.social report long-term outcomes after #HSCT in children with chronic granulomatous disease. While survival is excellent, a wide range of autoimmune and organ-specific late effects emerge. rupress.org/jhi/article/...

#CGD #InbornErrorsOfImmunity

Akalu et al. @bogunoviclab.bsky.social @columbiamed.bsky.social report new and long-term follow-up cases of human #TBK1 deficiency, revealing that, beyond systemic #autoinflammation, affected individuals are also vulnerable to severe viral #encephalitis. rupress.org/jhi/article/...

Acute necrotizing encephalopathy associated with #COVID19 in a pediatric patient and a systematic review. New study from Kanako Takeuchi, Satoshi Okada and colleagues (Hiroshima University): rupress.org/jhi/article/...

#InfectiousDiseases #PopulationGenetics #SarsCoV2

Managing non-SCID T cell lymphopenia after TREC-based #NewbornScreening. New study from Annelotte J. Duintjer, Maartje Blom @unileiden.bsky.social and colleagues: rupress.org/jhi/article/...

#TCellDeficiencies #Diagnostics; #SevereImmunodeficiencies #SCID
@esidsociety.bsky.social

Beyond survival: Multisystem long-term outcomes following #HSCT in chronic granulomatous disease. New study from Valentina Guarnieri, Reem Elfeky and colleagues @greatormondst.bsky.social: rupress.org/jhi/article/...

#InbornErrorsOfImmunity #immunodeficiencies #CGD
@esidsociety.bsky.social

Moratti et al. exemplify how an effective management of IEI-related LPD demands close collaboration among immunologists, hematologists, & pathologists—integrating clinical presentation with serology, histology, immunohistochemistry, clonality assays, EBV status & genetics rupress.org/jhi/article-...

Expanding the scope of human immunology in the JHI. In this Editorial, @petterbrodin.bsky.social, @macattacklab.bsky.social, @casanovalab.bsky.social, alongside JHI's Associate, Consulting, as well as Society Editors, outline a broader scope for the journal. rupress.org/jhi/article/...

New @jhumimmunity.org Editorial: @petterbrodin.bsky.social, @macattacklab.bsky.social, @casanovalab.bsky.social, alongside JHI's Associate, Consulting, as well as Society Editors, outline a broader scope for the journal.

Expanding the scope of human immunology in the Journal of Human Immunity A broader scope for the Journal of Human Immunity.

If you love human immunology, don't be shy:

Expanding the scope of human immunology in the Journal of Human Immunity url: rupress.org/jhi/article/...

Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision Moratti et al. exemplify how an effective management of IEI-related LPD demands close collaboration among immunologists, hematologists, and pathologists—in

A long-awaited fresh look on a classic problem:

Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision url: rupress.org/jhi/article/...