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Mutations in SRP54Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Authors :
Bellanné-Chantelot, Christine
Marty, Caroline
Schmaltz-Panneau, Barbara
Fenneteau, Odile
Callebaut, Isabelle
Clauin, Séverine
Docet, Aurélie
Damaj, Gandhi
Leblanc, Thierry
Pellier, Isabelle
Stoven, Cécile
Souquere, Sylvie
Antony-Debre, Iléana
Beaupain, Blandine
Aladjidi, Nathalie
Barlogis, Vincent
Bauduer, Frederic
Bensaid, Philippe
Boesflug-Tanguy, Odile
Berger, Claire
Bertrand, Yves
Carausu, Liana
Fieschi, Claire
Galambrun, Claire
Schmidt, Aline
Journel, Hubert
Mazingue, Francoise
Nelken, Brigitte
Quah, Thuan Chong
Oksenhendler, Eric
Ouachee, Marie
Pasquet, Marlène
Suarez, Felipe
Pierron, Gérard
Vainchenker, William
Plo, Isabelle
Donadieu, Jean
Source :
Blood; December 2017, Vol. 130 Issue: 1, Number 1 Supplement 1 pLBA-3-LBA-3
Publication Year :
2017

Abstract

Context.Congenital neutropenia (CN) is a heterogeneous group of diseases characterized by low neutrophil count, severe bacterial infections, increased risk of leukemic transformation and various extra-hematopoietic organ dysfunctions. Even if 24 different genes have been linked to the etiology of CN, in many patients the genetic causes of CN remain unknown.

Details

Language :
English
ISSN :
00064971 and 15280020
Volume :
130
Issue :
1, Number 1 Supplement 1
Database :
Supplemental Index
Journal :
Blood
Publication Type :
Periodical
Accession number :
ejs56864583
Full Text :
https://doi.org/10.1182/blood.V130.Suppl_1.LBA-3.LBA-3