Severe congenital neutropenia 1

Common Name(s)

Severe congenital neutropenia 1

Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections ({26:Skokowa et al., 2007}). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. Genetic Heterogeneity of Severe Congenital Neutropenia Severe congenital neutropenia is a genetically heterogeneous disorder showing autosomal dominant, autosomal recessive, and X-linked inheritance. Autosomal dominant SCN2 ({613107}) is caused by mutation in the protooncogene GFI1 ({600871}) on chromosome 1p22. Autosomal recessive SCN3 ({610738}) is caused by mutation in the HAX1 gene ({605998}) on 1q21.3; autosomal recessive SCN4 ({612541}) is caused by mutation in the G6PC3 gene ({611045}) on 17q21; autosomal recessive SCN5 ({615285}) is caused by mutation in the VPS45 gene ({610035}) on 1q; and autosomal recessive SCN6 ({616022}) is caused by mutation in the JAGN1 gene ({616012}) on 3p25. X-linked SCN (SCNX; {300299}) is caused by mutation in the WAS gene ({300392}) on Xp11. For associations pending confirmation, see MOLECULAR GENETICS. See also adult chronic idiopathic nonimmune neutropenia ({607847}) and chronic benign familial neutropenia ({162700}). Susceptibility to Myelodysplastic Syndrome/Acute Myeloid Leukemia SCN patients with acquired mutations in the granulocyte colony-stimulating factor receptor (CSF3R; {138971}) in hematopoietic cells define a group with high risk for progression to myelodysplastic syndrome and/or acute myeloid leukemia.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Severe congenital neutropenia 1" for support, advocacy or research.

National Neutropenia Network Inc.

To promote awareness, education, and research, and to provide a support system for patients with severe chronic neutropenia and their families through a national resource network.

Last Updated: 29 Apr 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Severe congenital neutropenia 1" for support, advocacy or research.

National Neutropenia Network Inc.

To promote awareness, education, and research, and to provide a support system for patients with severe chronic neutropenia and their families through a national resource network.

http://www.neutropenianet.org/

Last Updated: 29 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Severe congenital neutropenia 1" returned 3 free, full-text research articles on human participants. First 3 results:

A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia.
 

Author(s): Juan I Aróstegui, José Sánchez de Toledo, Mariona Pascal, Carlos García, Jordi Yagüe, Cristina Díaz de Heredia

Journal: Blood. 2009 Aug;114(8):1718-9.

 

Last Updated: 21 Aug 2009

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Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1.
 

Author(s): Julia Skokowa, John Paul Fobiwe, Lan Dan, Basant Kumar Thakur, Karl Welte

Journal: Blood. 2009 Oct;114(14):3044-51.

 

Severe congenital neutropenia (CN) is a heterogeneous disorder of myelopoiesis which follows an autosomal dominant or autosomal recessive pattern of inheritance. Genetic analyses indicate mutations in the ELA2 gene in most patients. We have identified LEF-1 as a decisive transcription ...

Last Updated: 2 Oct 2009

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The carboxyl terminus of the granulocyte colony-stimulating factor receptor, truncated in patients with severe congenital neutropenia/acute myeloid leukemia, is required for SH2-containing phosphatase-1 suppression of Stat activation.
 

Author(s): F Dong, Y Qiu, T Yi, I P Touw, A C Larner

Journal: J. Immunol.. 2001 Dec;167(11):6447-52.

 

The G-CSF receptor transduces signals that regulate the proliferation, differentiation, and survival of myeloid cells. A subgroup of patients with severe congenital neutropenia (SCN) has been shown to harbor mutations in the G-CSF receptor gene that resulted in the truncation of the ...

Last Updated: 20 Nov 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Severe congenital neutropenia 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Thalassemia; Anemia; Granuloma; Wiskott-Aldrich Syndrome; Chediak Higashi Syndrome; Osteopetrosis; Neutropenia; Thrombocytopenia; Hurler Disease; Niemann-Pick Disease; Fucosidosis

 

Last Updated: 22 Jun 2011

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