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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-01-2021
Symbol NSC8
Location 14q13.2
Name neutropenia, severe congenital, 8, autosomal dominant
Other name(s) SHWACHMAN-DIAMOND suyndrome-like
Corresponding gene SRP54
Other symbol(s) SDSL
Main clinical features
  • pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy
  • bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts
  • any patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease