Severe congenital Kostmann's neutropenia

Severe congenital neutropenia, or Kostmann's syndrome, or infantile agranulocytosis (SCN3, OMIM: 610738) is an AR-inherited disease characterized by severe neutropenia and severe bacterial infections. The genetic basis is a mutation in the HAX1 gene (1q21.3). There are other forms of severe congenital neutropenia, such as autosomal dominant inherited (mutations of the GFI1-1p22 gene or the ELA2-19p13.3 gene).

Pathogenesis

 * Disruption of the signal transduction cascade via the G-CSF causes the absence of all stages of maturation from promyelocytes,
 * Phagocytosis is impaired.

Clinical picture

 * Already in the first days of life - fever, infection of the skin and umbilical cord, stomatitis,
 * Infections tend to become generalized,
 * Most common agents: Staphylococcus aureus, E. coli, Pseudomonas aeruginosa.

Diagnostics

 * Blood count + differential: deep neutropenia,
 * Bone marrow: near-complete absence of promyelocytes and myelocytes at normal myeloid lineage.

Therapy

 * Recombinant G-CSF (long-term side effects: osteoporosis, bone fibrosis, splenomegaly),
 * Alternatively, a bone marrow transplant.

Related articles

 * Primary immunodeficiency
 * Neutropenia

Source

 * ŠÍPEK, Antonín. Geneticky podmíněné poruchy imunitního systému [online]. Poslední revize 9. 6. 2006, [cit. 23. 12. 2009]. .



Literature



 * BARTŮŇKOVÁ, Jiřina. Imunodeficience. 1. vydání. Praha : Grada, 2002. 228 s.  ISBN 80-247-0244-4.