Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage-Reference-Cited by-同舟云学术

Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

Published:2013-11-15 Issue:6160 Volume:342 Page:866-871
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Angulo Ivan¹,Vadas Oscar²,Garçon Fabien³,Banham-Hall Edward³,Plagnol Vincent⁴,Leahy Timothy R.⁵⁶,Baxendale Helen⁷,Coulter Tanya⁶⁸,Curtis James¹,Wu Changxin¹,Blake-Palmer Katherine¹,Perisic Olga²,Smyth Deborah⁹,Maes Mailis¹,Fiddler Christine¹,Juss Jatinder¹,Cilliers Deirdre¹⁰,Markelj Gašper¹¹,Chandra Anita⁷,Farmer George¹²,Kielkowska Anna¹³,Clark Jonathan¹³,Kracker Sven¹⁴¹⁵,Debré Marianne¹⁶,Picard Capucine¹⁵¹⁶¹⁷,Pellier Isabelle¹⁸,Jabado Nada¹⁹,Morris James A.²⁰,Barcenas-Morales Gabriela²¹,Fischer Alain¹⁴¹⁵¹⁶,Stephens Len³,Hawkins Phillip³,Barrett Jeffrey C.²⁰,Abinun Mario⁵,Clatworthy Menna¹,Durandy Anne¹⁴¹⁵¹⁶¹⁷,Doffinger Rainer⁷,Chilvers Edwin R.¹,Cant Andrew J.⁵,Kumararatne Dinakantha⁷,Okkenhaug Klaus³,Williams Roger L.²,Condliffe Alison¹,Nejentsev Sergey¹

Affiliation:

1. Department of Medicine, University of Cambridge, Cambridge, UK.

2. Medical Research Council, Laboratory of Molecular Biology, Cambridge, UK.

3. The Babraham Institute, Cambridge, UK.

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

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

6. Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland.

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

8. Department of Immunology, School of Medicine, Trinity College, Dublin, Ireland.

9. Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.

10. Department of Clinical Genetics, Oxford University Hospitals, Oxford, UK.

11. Department of Allergology, Rheumatology and Clinical Immunology, University Children’s Hospital, University Medical Center, Ljubljana, Slovenia.

12. Raigmore Hospital, Inverness, UK.

13. Babraham Bioscience Technologies Ltd, Babraham Research Campus, Cambridge, UK.

14. National Institute of Health and Medical Research INSERM U768, Necker Children’s Hospital, Paris, France.

15. Descartes-Sorbonne Paris Cité University of Paris, Imagine Institute, Paris, France.

16. Department of Immunology and Hematology, Assistance Publique-Hopitaux de Paris, Necker Children’s Hospital, Paris, France.

17. Center for Primary Immunodeficiencies (CEDI), Assistance Publique-Hopitaux de Paris, Necker Children’s Hospital, Paris, France.

18. Department of Pediatrics, Centre Hospital Universitaire, Angers, France.

19. Department of Pediatrics, McGill University and McGill University Health Center, Montreal, Canada.

20. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.

21. Laboratorio de Inmunologia, Unam, Fes-Cuautitlan, Mexico.

Abstract

Answers from Exomes Exome sequencing, which targets only the protein-coding regions of the genome, has the potential to identify the underlying genetic causes of rare inherited diseases. Angulo et al. (p. 866 , published online 17 October; see Perspective by

Conley and Fruman

) performed exome sequencing of individuals from seven unrelated families with severe, recurrent respiratory infections. The patients carried the same mutation in the gene coding for the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). The mutation caused aberrant activation of this kinase, which plays a key role in immune cell signaling. Drugs inhibiting PI3Kδ are already in clinical trials for other disorders.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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