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 ?
Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007;109:1817-24.
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: A novel mutation in two unrelated British kindreds.
Bonanomi et al., "Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia," Haematologica, vol.
Barak et al., "Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation," Blood, vol.
Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey.
[55.] Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van Den Oord JJ, Verhoef GE, Boogaerts MA, Fryns JP, You D, Rosen MK, Vandenberghe P Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001;27:313-7.
In severe congenital neutropenia, mutations which may explain the disease have started to be defined and it has been observed that mutations in different genes may lead to SCN due to locus heterogeneity (3,4).
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

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