Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation

We have analysed a family with nine congenital neutropenia patients in four generations, several of which we have studied in a long-term follow-up of over 25 years. The patients were mild to severe neutropenic and suffered from various recurrent bacterial infections. Mutations in the genes ELANE, CSF3R and GFI1 have been reported in patients with autosomal dominant … celý popis

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Publikováno v
Annals of hematology Ročník 90; číslo 2; s. 151 - 158
Hlavní autoři
van de Vosse, Esther, Verhard, Els M, Tool, Anton J. T, de Visser, Adriëtte W, Kuijpers, Taco W, Hiemstra, Pieter S, van Dissel, Jaap T
Typ dokumentu
Journal Article
Jazyk
English
Vydáno
Berlin/Heidelberg Berlin/Heidelberg : Springer-Verlag 01. 02. 2011
Springer-Verlag
Springer Nature B.V
Springer Verlag
Témata
alpha 1-Antitrypsin - metabolism
Antimicrobial Cationic Peptides - blood
Chromosome Mapping
Congenital Bone Marrow Failure Syndromes
DNA Mutational Analysis
Bibliografie
http://dx.doi.org/10.1007/s00277-010-1056-4
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ObjectType-Article-2
ObjectType-Feature-1
ISSN
0939-5555
1432-0584
DOI
10.1007/s00277-010-1056-4
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