Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4-Reference-Cited by-同舟云学术

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

Published:2014-09-26 Issue:6204 Volume:345 Page:1623-1627
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Kuehn Hye Sun¹,Ouyang Weiming²,Lo Bernice³⁴,Deenick Elissa K.⁵⁶,Niemela Julie E.¹,Avery Danielle T.⁵,Schickel Jean-Nicolas⁷,Tran Dat Q.⁸,Stoddard Jennifer¹,Zhang Yu⁴⁹,Frucht David M.²,Dumitriu Bogdan¹⁰,Scheinberg Phillip¹⁰,Folio Les R.¹¹,Frein Cathleen A.¹²,Price Susan³⁴,Koh Christopher¹³,Heller Theo¹³,Seroogy Christine M.¹⁴,Huttenlocher Anna¹⁴¹⁵,Rao V. Koneti³⁴,Su Helen C.⁴⁹,Kleiner David¹⁶,Notarangelo Luigi D.¹⁷,Rampertaap Yajesh¹⁸,Olivier Kenneth N.¹⁸,McElwee Joshua¹⁹,Hughes Jason¹⁹,Pittaluga Stefania¹⁶,Oliveira Joao B.²⁰,Meffre Eric⁷,Fleisher Thomas A.¹,Holland Steven M.⁴¹⁸,Lenardo Michael J.³⁴,Tangye Stuart G.⁵⁶,Uzel Gulbu¹⁸

Affiliation:

1. Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.

2. Laboratory of Cell Biology, Division of Monoclonal Antibodies, Office of Biotechnology Products, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Bethesda, MD 20892, USA.

3. Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.

4. NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.

5. Immunology and Immunodeficiency Group, Immunology Division, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.

6. St. Vincent’s Clinical School Faculty of Medicine, University of New South Wales, Sydney, NSW 2010, Australia.

7. Department of Immunobiology, Yale University School of Medicine, New Haven, CT 06511, USA.

8. Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA.

9. Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.

10. Hematology Branch, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA.

11. Radiology and Imaging and Sciences, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.

12. Clinical Research Directorate, Clinical Monitoring Research Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.

13. Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.

14. Department of Pediatrics, University of Wisconsin, Madison, WI 53706, USA.

15. Department of Medical Microbiology and Immunology, University of Wisconsin, Madison, WI 53706, USA.

16. Laboratory of Pathology, National Cancer Institute, Bethesda, MD 20892, USA.

17. Division of Immunology and Manton Center for Orphan Disease Research, Children’s Hospital, Harvard Medical School, Boston, MA 10217, USA.

18. Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.

19. Merck Research Laboratories, Merck & Co., Boston, MA 02130, USA.

20. Instituto de Medicina Integral Prof. Fernando Figueira–IMIP, 50070 Recife-PE, Brazil.

Abstract

Beware of T cells that don't know how to stop During an infection, T cells divide extensively and secrete proteins that can severely damage tissues. But T cells know when to stop—they express proteins on their surface such as CTLA4, which put on the brakes. Kuehn et al. now report genetic evidence of the importance of CTLA4 in humans (see the Perspective by Rieux-Laucat and Casanova). They identified six patients with mutations in one copy of CTLA4 . Patients presented with symptoms of an overzealous immune response, with immune cells infiltrating their organs. The findings support the idea that CTLA4 tells the immune system when enough is enough. Science , this issue p. 1623 ; see also p. 1560

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference35 articles.

1. The Immune Tolerance Network at 10 years: tolerance research at the bedside

2. Multistep Pathogenesis of Autoimmune Disease

3. Regulatory T Cells and Immune Tolerance

4. Regulatory T Cells: Mechanisms of Differentiation and Function

5. Treg Cells, Life History, and Diversity

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