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GTR Home > Conditions/Phenotypes > Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Synonyms
Neutropenia, severe congenital, 7, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Severe congenital neutropenia-7 is an autosomal recessive immunodeficiency characterized by onset of recurrent infections in infancy or early childhood. Patients have peripheral neutropenia, although bone marrow biopsy shows normal granulocyte maturation. The neutropenia is not responsive to treatment with G-CSF, but may be responsive to GM-CSF (summary by Triot et al., 2014 and Klimiankou et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD114, GCSFR, SCN7, CSF3R
    Summary: colony stimulating factor 3 receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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