Severe congenital Kostmann neutropenia

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

Pathogenesis

• Disruption of the signaling cascade through the G-CSF pathway causes the absence of all stages of maturation from promyelocytes,
• Phagocytosis is impaired.

Clinical picture

• Already in the first days of life – fever, skin and umbilical cord infections, stomatitis,
• Infections tend to generalize,
• The most common causative agents: Staphylococcus aureus, E. coli, Pseudomonas aeruginosa.

Diagnostics

• Blood count + differential: profound neutropenia,
• Bone marrow: almost complete absence of promyelocytes and myelocytes with a normal number of myeloid lineage.

Treatment

• Recombinant G-CSF (long-term side effects: osteoporosis, bone fibrosis, splenomegaly),
• Event. bone marrow transplantation.

Links

Related Articles

• Primary immunodeficiency
• Neutropenia in children

Source

• • ŠÍPEK, Antonín. Geneticky podmíněné poruchy imunitního systému [online]. The last revision 9. 6. 2006, [cit. 23. 12. 2009]. <http://www.genetika-biologie.cz/primarni-imunodeficience>.

Used literature

• BARTŮŇKOVÁ, Jiřina. Imunodeficience. 1. edition. Grada, 2002. 228 pp. ISBN 80-247-0244-4.