Congenital neutropenia.
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.
Ancliff
Philip James
PJ
Department of Haematology, Great Ormond Street Hospital, London WC1N 3JH, UK. anclip@gosh.nhs.uk
D017920:Antiporters / Q000235:genetics; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D009503:Neutropenia / Q000151:congenital* / Q000209:etiology / Q000628:therapy; D011506:Proteins / Q000235:genetics; D013577:Syndrome
D017920:Antiporters; D009004:Monosaccharide Transport Proteins; D011506:Proteins; C470521:SBDS protein, human; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D019272:Leukocyte Elastase