Severe congenital neutropenia autosomal recessive 3

Common Name(s)

Severe congenital neutropenia autosomal recessive 3

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by {1:Boztug et al., 2010}). The Swedish physician Rolf {15:Kostmann (1956)} described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome ({19:Skokowa et al., 2007}). {17:Lekstrom-Himes and Gallin (2000)} discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes. In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia ({257100}), Chediak-Higashi syndrome ({214500}), and Fanconi pancytopenic syndrome (see {227650}). For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 ({202700}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Severe congenital neutropenia autosomal recessive 3" for support, advocacy or research.

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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: 20 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Severe congenital neutropenia autosomal recessive 3" for support, advocacy or research.

Logo
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: 20 Feb 2013

View Details

 

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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 autosomal recessive 3" returned 0 free, full-text research articles on human participants.

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 autosomal recessive 3" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.