Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
Abstract Kostmann disease or severe congenital neutropenia (SCN) is an autosomal recessive disorder of neutrophil production. Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. Moreover, recent studies have su...
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crwiley:10.1002/pbc.22131 2024-06-02T08:12:09+00:00 Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities Carlsson, Göran Elinder, Göran Malmgren, Helena Trebinska, Alicja Grzybowska, Ewa Dahl, Niklas Nordenskjöld, Magnus Fadeel, Bengt 2009 http://dx.doi.org/10.1002/pbc.22131 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpbc.22131 https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.22131 en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Pediatric Blood & Cancer volume 53, issue 6, page 1143-1146 ISSN 1545-5009 1545-5017 journal-article 2009 crwiley https://doi.org/10.1002/pbc.22131 2024-05-03T11:24:15Z Abstract Kostmann disease or severe congenital neutropenia (SCN) is an autosomal recessive disorder of neutrophil production. Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. Moreover, recent studies have suggested an association between neurological dysfunction and HAX1 deficiency. Here we describe a patient with a compound heterozygous HAX1 mutation consisting of a nonsense mutation (c.568C > T, p.Glu190X) and a frame‐shift mutation (c.91delG, p.Glu31LysfsX54) resulting in a premature stop codon. The patient has a history of neutropenia and a propensity for infections, but has shown no signs of neurodevelopmental abnormalities. Pediatr Blood Cancer 2009;53:1143–1146. © 2009 Wiley‐Liss, Inc. Article in Journal/Newspaper Northern Sweden Wiley Online Library Pediatric Blood & Cancer 53 6 1143 1146 |
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Wiley Online Library |
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English |
description |
Abstract Kostmann disease or severe congenital neutropenia (SCN) is an autosomal recessive disorder of neutrophil production. Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. Moreover, recent studies have suggested an association between neurological dysfunction and HAX1 deficiency. Here we describe a patient with a compound heterozygous HAX1 mutation consisting of a nonsense mutation (c.568C > T, p.Glu190X) and a frame‐shift mutation (c.91delG, p.Glu31LysfsX54) resulting in a premature stop codon. The patient has a history of neutropenia and a propensity for infections, but has shown no signs of neurodevelopmental abnormalities. Pediatr Blood Cancer 2009;53:1143–1146. © 2009 Wiley‐Liss, Inc. |
format |
Article in Journal/Newspaper |
author |
Carlsson, Göran Elinder, Göran Malmgren, Helena Trebinska, Alicja Grzybowska, Ewa Dahl, Niklas Nordenskjöld, Magnus Fadeel, Bengt |
spellingShingle |
Carlsson, Göran Elinder, Göran Malmgren, Helena Trebinska, Alicja Grzybowska, Ewa Dahl, Niklas Nordenskjöld, Magnus Fadeel, Bengt Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities |
author_facet |
Carlsson, Göran Elinder, Göran Malmgren, Helena Trebinska, Alicja Grzybowska, Ewa Dahl, Niklas Nordenskjöld, Magnus Fadeel, Bengt |
author_sort |
Carlsson, Göran |
title |
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities |
title_short |
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities |
title_full |
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities |
title_fullStr |
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities |
title_full_unstemmed |
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities |
title_sort |
compound heterozygous hax1 mutations in a swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities |
publisher |
Wiley |
publishDate |
2009 |
url |
http://dx.doi.org/10.1002/pbc.22131 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpbc.22131 https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.22131 |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_source |
Pediatric Blood & Cancer volume 53, issue 6, page 1143-1146 ISSN 1545-5009 1545-5017 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1002/pbc.22131 |
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Pediatric Blood & Cancer |
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53 |
container_issue |
6 |
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1143 |
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1146 |
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1800758513118478336 |