Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation-Reference-Cited by-全球学者库

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

Published:2018-08-24 Issue:6404 Volume:361 Page:810-813
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Cuchet-Lourenço Delphine¹^ORCID,Eletto Davide¹^ORCID,Wu Changxin¹,Plagnol Vincent²^ORCID,Papapietro Olivier¹^ORCID,Curtis James¹,Ceron-Gutierrez Lourdes³,Bacon Chris M.⁴⁵^ORCID,Hackett Scott⁶,Alsaleem Badr⁷^ORCID,Maes Mailis¹^ORCID,Gaspar Miguel¹,Alisaac Ali¹⁸^ORCID,Goss Emma¹^ORCID,AlIdrissi Eman⁹^ORCID,Siegmund Daniela¹⁰,Wajant Harald¹⁰^ORCID,Kumararatne Dinakantha³^ORCID,AlZahrani Mofareh S.⁹,Arkwright Peter D.¹¹^ORCID,Abinun Mario¹²^ORCID,Doffinger Rainer³^ORCID,Nejentsev Sergey¹^ORCID

Affiliation:

1. Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.

2. University College London Genetics Institute, University College London, London, UK.

3. Department of Clinical Biochemistry and Immunology, Addenbrooke’s Hospital, Cambridge, UK.

4. Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK.

5. Department of Cellular Pathology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

6. Paediatric Immunology Department, Birmingham Heartland Hospital, Birmingham, UK.

7. Children’s Hospital, King Fahad Medical City, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.

8. Faculty of Applied Medical Sciences, Albaha University, Albaha, Kingdom of Saudi Arabia.

9. Children’s Hospital, University of King Saud for Health Sciences, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

10. Division of Molecular Internal Medicine, Department of Internal Medicine II, University Hospital Würzburg, Würzburg, Germany.

11. University of Manchester, Royal Manchester Children’s Hospital, Manchester, UK.

12. Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.

Abstract

Humans as models of human disease Mice are a convenient model for exploring the functions of cellular signaling pathways. Occasionally, however, an “experiment of nature” highlights the perils of overreliance on mice. RIPK1 is a well studied protein kinase that regulates cell death. Mice deficient in RIPK1 die soon after birth because of the protein's widespread role in multiple tissues and organs. Cuchet-Lourenço et al. studied patients with inherited immunodeficiency of unknown cause (see the Perspective by Pasparakis and Kelliher). They identified inactivating mutations in the RIPK1 gene in four individuals. Unlike what has been seen in mice, the deleterious effects of RIPK1 loss in humans were confined to the immune system, a finding with potential therapeutic implications. Science , this issue p. 810 ; see also p. 756

Funder

Wellcome Trust

Deutsche Forschungsgemeinschaft

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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