Literature DB >> 19440858

Genetic insights into congenital neutropenia.

Christoph Klein1, Karl Welte.   

Abstract

Congenital neutropenia syndromes comprise a heterogeneous group of disorders leading to increased susceptibility to bacterial infections. Recent work has elucidated the molecular basis of several congenital neutropenia syndromes such as mutations in ELA2, HAX1, GF11, and WAS. In addition, a number of complex clinical syndromes associating congenital neutropenia have been recognized and elucidated on a genetic level, e.g. p14-deficiency or G6PC3-deficiency. The clinical and genetic findings of various neutropenia syndromes are being discussed.

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Year:  2010        PMID： 19440858     DOI： 10.1007/s12016-009-8130-5

Source DB:  PubMed          Journal:  Clin Rev Allergy Immunol        ISSN： 1080-0549            Impact factor:   8.667


  77 in total

1.  Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Authors:  G Ménasché; E Pastural; J Feldmann; S Certain; F Ersoy; S Dupuis; N Wulffraat; D Bianchi; A Fischer; F Le Deist; G de Saint Basile
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

2.  Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation.

Authors:  Hanno Hock; Melanie J Hamblen; Heather M Rooke; David Traver; Roderick T Bronson; Scott Cameron; Stuart H Orkin
Journal:  Immunity       Date:  2003-01       Impact factor: 31.745

3.  Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase.

Authors:  O HIGASHI
Journal:  Tohoku J Exp Med       Date:  1954-02-25       Impact factor: 1.848

4.  Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.

Authors:  Laurence A Boxer; Steven Stein; Danielle Buckley; Audrey Anna Bolyard; David C Dale
Journal:  J Pediatr       Date:  2006-05       Impact factor: 4.406

5.  LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia.

Authors:  Julia Skokowa; Gunnar Cario; Murat Uenalan; Axel Schambach; Manuela Germeshausen; Karin Battmer; Cornelia Zeidler; Ulrich Lehmann; Matthias Eder; Christopher Baum; Rudolf Grosschedl; Martin Stanulla; Michaela Scherr; Karl Welte
Journal:  Nat Med       Date:  2006-09-24       Impact factor: 53.440

6.  Galpha13 stimulates cell migration through cortactin-interacting protein Hax-1.

Authors:  V Radhika; Djamila Onesime; Ji Hee Ha; N Dhanasekaran
Journal:  J Biol Chem       Date:  2004-08-31       Impact factor: 5.157

7.  NAMPT is essential for the G-CSF-induced myeloid differentiation via a NAD(+)-sirtuin-1-dependent pathway.

Authors:  Julia Skokowa; Dan Lan; Basant Kumar Thakur; Fei Wang; Kshama Gupta; Gunnar Cario; Annette Müller Brechlin; Axel Schambach; Lars Hinrichsen; Gustav Meyer; Matthias Gaestel; Martin Stanulla; Qiang Tong; Karl Welte
Journal:  Nat Med       Date:  2009-02-01       Impact factor: 53.440

8.  The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy.

Authors:  Philip S Rosenberg; Blanche P Alter; Audrey A Bolyard; Mary Ann Bonilla; Laurence A Boxer; Bonnie Cham; Carol Fier; Melvin Freedman; George Kannourakis; Sally Kinsey; Beate Schwinzer; Connie Zeidler; Karl Welte; David C Dale
Journal:  Blood       Date:  2006-02-23       Impact factor: 22.113

9.  Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response.

Authors:  Inga Köllner; Beate Sodeik; Sabine Schreek; Holger Heyn; Nils von Neuhoff; Manuela Germeshausen; Cornelia Zeidler; Martin Krüger; Brigitte Schlegelberger; Karl Welte; Carmela Beger
Journal:  Blood       Date:  2006-03-21       Impact factor: 22.113

10.  Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.

Authors:  K Matsubara; K Imai; S Okada; M Miki; N Ishikawa; M Tsumura; T Kato; O Ohara; S Nonoyama; M Kobayashi
Journal:  Haematologica       Date:  2007-12       Impact factor: 9.941
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  4 in total

1.  Otitis media in children with congenital immunodeficiencies.

Authors:  Simon Urschel
Journal:  Curr Allergy Asthma Rep       Date:  2010-11       Impact factor: 4.806

2.  Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.

Authors:  Philippe Bégin; Natalie Patey; Pascal Mueller; Andrée Rasquin; Alain Sirard; Christoph Klein; Elie Haddad; Éric Drouin; Françoise Le Deist
Journal:  J Clin Immunol       Date:  2012-11-20       Impact factor: 8.317

Review 3.  Eponym. Kostmann disease.

Authors:  Caner Aytekin; Manuela Germeshausen; Nilden Tuygun; Gonul Tanir; Figen Dogu; Aydan Ikinciogullari
Journal:  Eur J Pediatr       Date:  2010-02-18       Impact factor: 3.183

4.  Mutations in the ELANE gene are associated with development of periodontitis in patients with severe congenital neutropenia.

Authors:  Ying Ye; Göran Carlsson; Biniyam Wondimu; Annika Fahlén; Jenny Karlsson-Sjöberg; Mats Andersson; Lars Engstrand; Tülay Yucel-Lindberg; Thomas Modéer; Katrin Pütsep
Journal:  J Clin Immunol       Date:  2011-07-29       Impact factor: 8.317
  4 in total

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