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GTR Home > Conditions/Phenotypes > Neutropenia, severe congenital, 8, autosomal dominant

Neutropenia, severe congenital, 8, autosomal dominant

Synonyms
NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT, WITH OR WITHOUT PANCREATIC DYSFUNCTION AND/OR NEUROLOGIC ABNORMALITIES; SHWACHMAN-DIAMOND SYNDROME-LIKE

Summary

Autosomal dominant severe congenital neutropenia-8 (SCN8) is a pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy. Other hematologic parameters are usually normal, although some patients may have mild anemia. Bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts. Treatment with granulocyte colony-stimulating factor (GCSF; 138970) is usually ineffective or only partially effective, whereas hematopoietic bone marrow transplantation is effective. A subset of patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome (see SDS1, 260400), and/or neurologic deficits, including developmental delay, impaired intellectual development, speech delay, and/or autistic features (summary by Carapito et al., 2017 and Bellanne-Chantelot et al., 2018). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SCN8, SRP54
    Summary: signal recognition particle 54

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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