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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-01-2021
Symbol SCNP3
Location 1q21.3
Name severe congenital neutropenia 3
Other name(s) Kostmann disease
Corresponding gene HAX1
Other symbol(s) SCN3
Main clinical features
  • heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections
  • characterized by reduced absolute neutrophil counts from birth, increased susceptibility to recurrent and life-threatening infections, and a preleukemic predisposition
  • associating frequently neurological retardation (PMID: 24484108))
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease