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Neutropenia, severe congenital, 11, autosomal dominant

Summary

Autosomal dominant severe congenital neutropenia-11 (SCN11) is characterized by the onset of recurrent infections, mainly bacterial, in early childhood. Laboratory studies show severe neutropenia due to maturation arrest and impaired development of myeloid cells. Other leukocyte subsets, including B cells and NK cells, may also be subtly affected. Patients should be followed for possible renal dysfunction (Van Nieuwenhove et al., 2020). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ADTKD5, CVID15, HNFJ4, HSEC61, SEC61, SEC61A, SEC61A1
    Summary: SEC61 translocon subunit alpha 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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