In severe congenital neutropenia, multiple genes may be responsible of a single clinical phenotype (locus heterogeneity).
Severe congenital neutropenia usually presents with a clinical picture of a severe infection including omphalitis, abscess formation, otitis, gingivitis and pneumonia in the first six months.
In severe congenital neutropenia, mutations which may explain the disease have started to be defined and it has been observed that mutations in different genes may lead to SCN due to locus heterogeneity (3,4).
The less common genes which may lead to severe congenital neutropenia include WAS and GFI-1 (6).
Severe congenital neutropenia (SCN) was identified by Kostmann, a Swedish pediatrician, in 1956 as "a new recessive lethal disease in man" (Kostmann syndrome) .
Congenital neutropenia due to defective RNA processing
Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.
G-CSF Receptor Mutations Found in Patients with Severe Congenital Neutropenia Confer a Strong Competitive Advantage at the Hematopoietic Stem Cell Level that is Dependent on Increased Systemic Levels of G-CSF [Abstract 457]
Severe congenital neutropenia (SCN) is a rare syndrome that presents shortly after birth with a severe decrease in the number of neutrophils (a type of white blood cell that kills bacteria) in the blood.