1. Главная
  2. Ресурсы
  3. Библиотечный поиск
Compound heterozygousHAX1 mutations in aSwedish patient withsevere congenitalneutropenia and noneurodevelopmentalabnormalities Göran CarlssonGöran ElinderHelena Malmgren2009 год

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
статья из журнала

Страница публикацииПубликация в OpenAlex
Аннотация: 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.
Год издания: 2009
Авторы: Göran Carlsson, Göran Elinder, Helena Malmgren, Alicja Trębińska, Ewa A. Grzybowska, Niklas Dahl, Magnus Nordenskjöld, Bengt Fadeel
Издательство: Wiley
Источник: Pediatric Blood & Cancer
Ключевые слова: Blood disorders and treatments, Immunodeficiency and Autoimmune Disorders, Erythrocyte Function and Pathophysiology
Другие ссылки: Pediatric Blood & Cancer (HTML)
PubMed (HTML)