Congenital neutropenia.

Abstract

Congenital neutropenia is strictly defined as neutropenia present at birth. However, it is more generally used to describe neutropenia secondary to inherited genetic mutations. This review will discuss the presentation of such children and the various causes of congenital neutropenia. In particular, it will focus on severe congenital neutropenia (SCN) and the recent discovery of mutations in the gene encoding neutrophil elastase in the majority of cases of SCN. The potential mechanisms of pathogenesis and of transformation to leukaemia will be discussed. Shwachman-Diamond Syndrome and other less common causes of congenital neutropenia will also be reviewed. Finally, an approach to the child with potential congenital neutropenia will be presented.

• Authors: Philip James Ancliff
• Journal: Blood reviews (Blood Rev) Vol. 17 Issue 4 Pg. 209-16 (Dec 2003) ISSN: 0268-960X [Print] England
• PMID: 14556775 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Antiporters
• Monosaccharide Transport Proteins
• Proteins
• SBDS protein, human
• SLC37A4 protein, human
• glucose 6-phosphate(transporter)
• Leukocyte Elastase

Topics

• Antiporters (genetics)
• Humans
• Leukocyte Elastase (genetics)
• Monosaccharide Transport Proteins (genetics)
• Neutropenia (congenital, etiology, therapy)
• Proteins (genetics)
• Syndrome