Severe congenital neutropenia autosomal dominant

Common Name(s)

Severe congenital neutropenia autosomal dominant

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; and autosomal recessive SCN5 ({615285}) is caused by mutation in the VPS45 gene ({610035}) on chromosome 1q. 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 autosomal dominant" 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 autosomal dominant" 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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.