Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Published:2018-09-20 Issue:12 Volume:132 Page:1318-1331
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Bellanné-Chantelot Christine¹²^ORCID,Schmaltz-Panneau Barbara²³,Marty Caroline²³,Fenneteau Odile⁴,Callebaut Isabelle⁵,Clauin Séverine¹,Docet Aurélie¹,Damaj Gandhi-Laurent⁶,Leblanc Thierry⁷,Pellier Isabelle⁸,Stoven Cécile⁹,Souquere Sylvie¹⁰,Antony-Debré Iléana²³,Beaupain Blandine¹¹,Aladjidi Nathalie¹²,Barlogis Vincent¹³,Bauduer Frédéric¹⁴,Bensaid Philippe¹⁵,Boespflug-Tanguy Odile¹⁶,Berger Claire¹⁷,Bertrand Yves¹⁸,Carausu Liana¹⁹,Fieschi Claire²⁰,Galambrun Claire¹³,Schmidt Aline²¹²²,Journel Hubert²³,Mazingue Françoise²⁴,Nelken Brigitte²⁴,Quah Thuan Chong²⁵,Oksenhendler Eric²⁰,Ouachée Marie⁷¹⁸,Pasquet Marlène²⁶,Saada Véronique²⁷,Suarez Felipe²⁸²⁹³⁰,Pierron Gérard¹⁰,Vainchenker William²³,Plo Isabelle²³^ORCID,Donadieu Jean¹¹³¹

Affiliation:

1. Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France;

2. INSERM UMR1170 and

3. University Paris-Saclay, Gustave Roussy, Villejuif, France;

4. Laboratory of Hematology, Robert Debré Hospital, AP-HP, Paris, France;

5. CNRS UMR7590, Sorbonne Universités, Université Pierre et Marie Curie-Paris 6-MNHN-IRD-IUC, Paris, France;

6. Department of Hematology, Centre Hospitalier Universitaire (CHU), Faculté de Médecine, University of Normandie Caen, Caen, France;

7. Department of Pediatric Hematology and Immunology, Robert Debré Hospital, AP-HP, Paris, France;

8. Department of Pediatric Hematology, Immunology and Oncology, CHU, Angers, France;

9. Department of Pediatrics, CHU La Réunion, Groupe Hospitalier Sud Réunion, France;

10. CNRS UMR9196, Gustave Roussy, Villejuif, France;

11. French Registry of Chronic Neutropenia, Trousseau Hospital, Paris, France;

12. Unit of Pediatric Hematology, Centre d’Investigation Clinique 1401 INSERM Centre d'Investigation Clinique Plurithématique, CHU Bordeaux, France;

13. Department of Pediatric Hematology, Timone Hospital, Assistance Publique-Hôpitaux de Marseille, Marseille, France;

14. Centre Hospitalier Côte Basque, Bayonne, France;

15. Department of Pediatrics, Centre Hospitalier Argenteuil, Argenteuil, France;

16. Child Neurology and Metabolic Disorders Department, Robert Debré Hospital, AP-HP, Paris, France;

17. Department of Pediatric Hematology and Oncology, CHU, Saint-Etienne, France;

18. Institut of Pediatric Hematology and Oncology, Lyon, France;

19. Department of Pediatric Hematology and Oncology, CHU, Brest, France;

20. Department of Clinical Immunology, Saint-Louis Hospital, AP-HP, Paris, France;

21. Department of Hematology, CHU, Angers, France;

22. INSERM U892/CNRS 6299, Angers University, Angers, France;

23. Department of Genetics, Bretagne-Atlantique Hospital, Vannes, France;

24. Department of Pediatric Hematology and Oncology, CHRU, Lille, France;

25. Department of Pediatrics, National University Hospital, Singapore;

26. Department of Pediatric Hematology and Oncology, CHU, Toulouse, France;

27. Laboratory of Hematology, Gustave Roussy, Villejuif, France;

28. Department of Hematology, Necker-Enfants Malades University Hospital, AP-HP, Paris, France;

29. INSERM UMR1163 and CNRS ERL 8254, Imagine Institut, Sorbonne Paris Cité, Paris, France;

30. Descartes University, Paris, France; and

31. Department of Pediatric Hematology and Oncology, Trousseau Hospital, AP-HP, Paris, France

Abstract

Key Points Identification of SRP54 mutations in congenital neutropenia. SRP54 mutations induce ER stress and autophagy associated with apoptosis.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/132/12/1318/1467446/blood820308.pdf

Reference40 articles.

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4. Severe congenital neutropenias;Skokowa;Nat Rev Dis Primers,2017

5. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis;Grenda;Blood,2007

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