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Vanessa Sancho-Shimizu
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Journal Articles

Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis

Michael E. Horesh, Marta Martin-Fernandez, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hodeib, Mariam Youssef, Jacob A. Kurowski, Elizabeth Feuille, Luis A. Pedroza, Ramsay L. Fuleihan, Alexandria Haseley, Alain Hovnanian, Pierre Quartier, Jérémie Rosain, Georgina Davis, Daniel Mullan, O’Jay Stewart, Roosheel Patel, Angelica E. Lee, Rebecca Rubinstein, Leyla Ewald, Nikhil Maheshwari, Virginia Rahming, Ivan K. Chinn, James R. Lupski, Jordan S. Orange, Vanessa Sancho-Shimizu, Jean-Laurent Casanova, Noura S. Abul-Husn, Yuval Itan, Joshua D. Milner, Jacinta Bustamante, Dusan Bogunovic
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (6): e2023238704302024c.
https://doi.org/10.1084/jem.2023238704302024c
Published: 06 May 2024
View article titled, Correction: Individuals with <em>JAK1</em> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Open the PDF for Correction: Individuals with <em>JAK1</em> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis in another window
Journal Articles

Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis

In Special Collection:
Autoimmunity 2024 , Innate Immune Signaling: From Host Defense to Disease Pathogenesis
Michael E. Horesh, Marta Martin-Fernandez, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hodeib, Mariam Youssef, Jacob A. Kurowski, Elizabeth Feuille, Luis A. Pedroza, Ramsay L. Fuleihan, Alexandria Haseley, Alain Hovnanian, Pierre Quartier, Jérémie Rosain, Georgina Davis, Daniel Mullan, O’Jay Stewart, Roosheel Patel, Angelica E. Lee, Rebecca Rubinstein, Leyla Ewald, Nikhil Maheshwari, Virginia Rahming, Ivan K. Chinn, James R. Lupski, Jordan S. Orange, Vanessa Sancho-Shimizu, Jean-Laurent Casanova, Noura S. Abul-Husn, Yuval Itan, Joshua D. Milner, Jacinta Bustamante, Dusan Bogunovic
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (6): e20232387.
https://doi.org/10.1084/jem.20232387
Published: 02 April 2024
View article titled, Individuals with <em>JAK1</em> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Open the PDF for Individuals with <em>JAK1</em> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis in another window
Includes: Supplementary data
Journal Articles

SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Vanessa Sancho-Shimizu, Petter Brodin, Aurélie Cobat, Catherine M. Biggs, Julie Toubiana, Carrie L. Lucas, Sarah E. Henrickson, Alexandre Belot, MIS-C@CHGE, Stuart G. Tangye, Joshua D. Milner, Michael Levin, Laurent Abel, Dusan Bogunovic, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (6): e20210446.
https://doi.org/10.1084/jem.20210446
Published: 27 April 2021
View article titled, SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Open the PDF for SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease? in another window
Includes: Supplementary data
Journal Articles

Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

Melina Herman, Michael Ciancanelli, Yi-Hung Ou, Lazaro Lorenzo, Maja Klaudel-Dreszler, Elodie Pauwels, Vanessa Sancho-Shimizu, Rebeca Pérez de Diego, Avinash Abhyankar, Elisabeth Israelsson, Yiqi Guo, Annabelle Cardon, Flore Rozenberg, Pierre Lebon, Marc Tardieu, Edyta Heropolitańska-Pliszka, Damien Chaussabel, Michael A. White, Laurent Abel, Shen-Ying Zhang, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2012) 209 (9): 1567–1582.
https://doi.org/10.1084/jem.20111316
Published: 30 July 2012
View article titled, Heterozygous <em>TBK1</em> mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood
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Journal Articles

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

Yiqi Guo, Magali Audry, Michael Ciancanelli, Laia Alsina, Joana Azevedo, Melina Herman, Esperanza Anguiano, Vanessa Sancho-Shimizu, Lazaro Lorenzo, Elodie Pauwels, Paul Bastard Philippe, Rebeca Pérez de Diego, Annabelle Cardon, Guillaume Vogt, Capucine Picard, Zafitsara Zo Andrianirina, Flore Rozenberg, Pierre Lebon, Sabine Plancoulaine, Marc Tardieu, Valérie Doireau, Emmanuelle Jouanguy, Damien Chaussabel, Frederic Geissmann, Laurent Abel, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2011) 208 (10): 2083–2098.
https://doi.org/10.1084/jem.20101568
Published: 12 September 2011
View article titled, Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity
Open the PDF for Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity in another window
Includes: Supplementary data