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 ?
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Genetic etiologies of severe congenital neutropenia.
Novel genetic etiologies of severe congenital neutropenia.

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