severe congenital neutropenia


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severe congenital neutropenia

One of several autosomal recessively inherited blood diseases in which inadequate neutrophils are made by the bone marrow, predisposing affected children to the risk of repeated, severe bacterial infections.
See also: neutropenia
References in periodicals archive ?
Novel genetic etiologies of severe congenital neutropenia.
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.

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