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).

Content

 * 1Pathogenesis
 * 2Clinical picture
 * 3Diagnostics
 * 4Therapy
 * 5Links
 * 5.1related articles
 * 5.2Source
 * 5.3Reference
 * 5.4References

Pathogenesis [ edit | edit source ]

 * 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 [ edit | edit source ]

 * 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 [ edit | edit source ]

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

Treatment [ edit | edit source ]

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

Related Articles [ edit | edit source ]

 * Primary immunodeficiency
 * Neutropenia in children

Source [ edit | edit source ]

 * ŠIPEK, Antonín. Genetically determined disorders of the immune system  [online]. Last revision 9/6/2006, [cit. 23/12/2009]. < http://www.genetika-biologie.cz/primarni-immunodeficiency >.

References [ edit | edit source ]

 * 1) ↑Jump up to:a b c d e MUNTAU, Ania Carolina. Pediatrics. 4th edition. Prague: Grada, 2009. pp. 251-252. ISBN 978-80-247-2525-3.

References [ edit | edit source ]

 * BARTŮŇKOVÁ, Jiřina. Immunodeficiency. 1st edition. Prague: Grada, 2002. 228 pp.  ISBN 80-247-0244-4.