Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia-Reference-Cited by-同舟云学术

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

Published:2013-05-24 Issue:6135 Volume:340 Page:976-978
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Bolze Alexandre¹²,Mahlaoui Nizar³,Byun Minji¹,Turner Bridget⁴,Trede Nikolaus⁴,Ellis Steven R.⁵,Abhyankar Avinash¹,Itan Yuval¹,Patin Etienne⁶,Brebner Samuel¹,Sackstein Paul¹,Puel Anne²⁷,Picard Capucine²⁷⁸,Abel Laurent¹²⁷,Quintana-Murci Lluis⁶,Faust Saul N.⁹¹⁰,Williams Anthony P.¹⁰¹¹,Baretto Richard¹²,Duddridge Michael¹²,Kini Usha¹³,Pollard Andrew J.¹⁴,Gaud Catherine¹⁵,Frange Pierre¹⁶¹⁷,Orbach Daniel¹⁸,Emile Jean-Francois¹⁹,Stephan Jean-Louis²⁰,Sorensen Ricardo²¹,Plebani Alessandro²²,Hammarstrom Lennart²³,Conley Mary Ellen²⁴,Selleri Licia²⁵,Casanova Jean-Laurent¹²⁷¹⁶

Affiliation:

1. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY 10065, USA.

2. University Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75006 Paris, France.

3. Pediatric Hematology-Immunology and Rheumatology Unit, French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker-Enfants Malades Hospital, 75015 Paris, France.

4. The Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.

5. Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY 40202, USA.

6. Unit of Human Evolutionary Genetics, CNRS URA3012, Department of Genomes and Genetics, Pasteur Institute, 75015 Paris, France.

7. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980, 75015 Paris, France.

8. Study Center of Primary Immunodeficiency, Necker-Enfants Malades Hospital, Assistance-Publique Hopitaux de Paris, 75015 Paris, France.

9. NIHR Wellcome Trust Clinical Research Facility, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.

10. Faculty of Medicine and Institute for Life Sciences, University of Southampton, Southampton SO16 6YD, UK.

11. University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.

12. Department of Immunology, University Hospitals Leicester NHS Trust, Leicester LE1 5WW, UK.

13. Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford OX3 7LE, UK.

14. Department of Pediatrics, University of Oxford, and the NIHR Oxford Biomedical Research Centre, Oxford OX3 9DU, UK.

15. Department of Clinical Immunology, CHU Reunion Site Nord, 97405 Saint-Denis, Reunion Island, France.

16. Pediatric Immunology-Hematology Unit, Necker-Enfants Malades Hospital, Assistance-Publique Hopitaux de Paris, 75015 Paris, France.

17. EA 3620, University Paris Descartes, Sorbonne Paris Cité, 75015 Paris, France.

18. Pediatric Department, Curie Institute, 75005 Paris, France.

19. EA 4340, University Versailles SQY and Ambroise Pare Hospital, Assistance-Publique Hopitaux de Paris, 92104 Boulogne, France.

20. Department of Pediatrics, CHU Nord, 42055 Saint-Etienne, France.

21. Department of Pediatrics, Louisiana State University Health Sciences Center, Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies and Children’s Hospital, New Orleans, LA 70118, USA.

22. Department of Pediatrics and Institute for Molecular Medicine “A. Nocivelli,” University of Brescia, Spedali Civili of Brescia, 25123 Brescia, Italy.

23. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden.

24. Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN 38101, USA.

25. Department of Cell and Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA.

Abstract

Spleen Knockout Explained Isolated congenital asplenia (ICA) is a rare disorder where patients are born without a spleen and are at increased risk of bacterial infection but have no other developmental abnormalities. Through sequence analysis of familial and sporadic cases, Bolze et al. (p. 976 , published online 11 April) found that ICA patients carry mutations in the gene encoding ribosomal protein SA and as a result express about half the normal amount of this protein. The mechanism by which reduced expression of a housekeeping protein causes an organ-specific defect remains unclear.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference38 articles.

1. Isolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 Cases

2. Primary Immunodeficiencies: A Field in Its Infancy

3. Congenital Absence of the Spleen in an Adult

4. Unusual Manifestations of Myelofibrosis in a Patient with Congenital Asplenia

5. Persistent thrombocytosis in elderly patients with rare hyposplenias that mimic essential thrombocythemia

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