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Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.
Ogishi, Masato; Yang, Rui; Rodriguez, Rémy; Golec, Dominic P; Martin, Emmanuel; Philippot, Quentin; Bohlen, Jonathan; Pelham, Simon J; Arias, Andrés Augusto; Khan, Taushif; Ata, Manar; Al Ali, Fatima; Rozenberg, Flore; Kong, Xiao-Fei; Chrabieh, Maya; Laine, Candice; Lei, Wei-Te; Han, Ji Eun; Seeleuthner, Yoann; Kaul, Zenia; Jouanguy, Emmanuelle; Béziat, Vivien; Youssefian, Leila; Vahidnezhad, Hassan; Rao, V Koneti; Neven, Bénédicte; Fieschi, Claire; Mansouri, Davood; Shahrooei, Mohammad; Pekcan, Sevgi; Alkan, Gulsum; Emiroglu, Melike; Tokgöz, Hüseyin; Uitto, Jouni; Hauck, Fabian; Bustamante, Jacinta; Abel, Laurent; Keles, Sevgi; Parvaneh, Nima; Marr, Nico; Schwartzberg, Pamela L; Latour, Sylvain; Casanova, Jean-Laurent; Boisson-Dupuis, Stéphanie.
Afiliação
  • Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
  • Yang R; The David Rockefeller Graduate Program, Rockefeller University, New York, NY.
  • Rodriguez R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
  • Golec DP; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR1163, Paris, France.
  • Martin E; Imagine Institute, University of Paris Cité, Paris, France.
  • Philippot Q; Cell Signaling and Immunity Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Bohlen J; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR1163, Paris, France.
  • Pelham SJ; Imagine Institute, University of Paris Cité, Paris, France.
  • Arias AA; Imagine Institute, University of Paris Cité, Paris, France.
  • Khan T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Ata M; Imagine Institute, University of Paris Cité, Paris, France.
  • Al Ali F; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Rozenberg F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
  • Kong XF; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
  • Chrabieh M; Primary Immunodeficiencies Group, University of Antioquia UdeA, Medellin, Colombia.
  • Laine C; School of Microbiology, University of Antioquia UdeA, Medellin, Colombia.
  • Lei WT; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
  • Han JE; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
  • Seeleuthner Y; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
  • Kaul Z; Department of Virology, Cochin Hospital, University of Paris, Paris, France.
  • Jouanguy E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
  • Béziat V; Imagine Institute, University of Paris Cité, Paris, France.
  • Youssefian L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Vahidnezhad H; Imagine Institute, University of Paris Cité, Paris, France.
  • Rao VK; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Neven B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
  • Fieschi C; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
  • Mansouri D; Imagine Institute, University of Paris Cité, Paris, France.
  • Shahrooei M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Pekcan S; Cell Signaling and Immunity Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Alkan G; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
  • Emiroglu M; Imagine Institute, University of Paris Cité, Paris, France.
  • Tokgöz H; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Uitto J; Imagine Institute, University of Paris Cité, Paris, France.
  • Hauck F; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Bustamante J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Philadelphia, PA.
  • Abel L; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA.
  • Keles S; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Philadelphia, PA.
  • Parvaneh N; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA.
  • Marr N; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Schwartzberg PL; Pediatric Immunology and Hematology Department, Necker Hospital for Sick Children Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Latour S; Clinical Immunology Department, Saint Louis Hospital, AP-HP Université de Paris, Paris, France.
  • Casanova JL; INSERM UMR1126, Institut de Recherche Saint-Louis, Université de Paris, Paris, France.
  • Boisson-Dupuis S; Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
J Exp Med ; 220(1)2023 01 02.
Article em En | MEDLINE | ID: mdl-36326697
ABSTRACT
Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB and inherited complete ITK deficiency, a condition associated with severe EBV disease that renders immunological studies challenging. They have CD4+ αß T lymphocytopenia with a concomitant expansion of CD4-CD8- double-negative (DN) αß and Vδ2- γδ T lymphocytes, both displaying a unique CD38+CD45RA+T-bet+EOMES- phenotype. Itk-deficient mice recapitulated an expansion of the γδ T and DN αß T lymphocyte populations in the thymus and spleen, respectively. Moreover, the patients' T lymphocytes secrete small amounts of IFN-γ in response to TCR crosslinking, mitogens, or forced synapse formation with autologous B lymphocytes. Finally, the patients' total lymphocytes secrete small amounts of IFN-γ, and CD4+, CD8+, DN αß T, Vδ2+ γδ T, and MAIT cells display impaired IFN-γ production in response to BCG. Inherited ITK deficiency undermines the development and function of various IFN-γ-producing T cell subsets, thereby underlying TB.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tuberculose / Receptores de Antígenos de Linfócitos T gama-delta Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tuberculose / Receptores de Antígenos de Linfócitos T gama-delta Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article