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HandWiki. Kostmann Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/31030 (accessed on 25 September 2026).
HandWiki. Kostmann Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/31030. Accessed September 25, 2026.
HandWiki. "Kostmann Syndrome" Encyclopedia, https://encyclopedia.pub/entry/31030 (accessed September 25, 2026).
HandWiki. (2022, October 25). Kostmann Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/31030
HandWiki. "Kostmann Syndrome." Encyclopedia. Web. 25 October, 2022.
Kostmann Syndrome
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The content is sourced from: https://handwiki.org/wiki/Medicine:Kostmann_syndrome

Kostmann syndrome is a group of diseases that affect myelopoiesis, causing a congenital form of neutropenia (severe congenital neutropenia [SCN]), usually without other physical malformations. SCN manifests in infancy with life-threatening bacterial infections. Most cases of SCN respond to treatment with granulocyte colony-stimulating factor (filgrastim), which increases the neutrophil count and decreases the severity and frequency of infections. Although this treatment has significantly improved survival, people with SCN are at risk of long-term complications such as hematopoietic clonal disorders (myelodysplastic syndrome, acute myeloid leukemia). Kostmann disease (SCN3), the initial subtype recognized, was clinically described in 1956. This type has an autosomal recessive inheritance pattern, whereas the most common subtype of Kostmann syndrome, SCN1, shows autosomal dominant inheritance.

filgrastim neutrophil count granulocyte

References

  1. Hoffman, R; Benz, EJ; Silberstein, LE; Heslop, H; Weitz J; Anastasi, J. (2012). Hematology: Basic Principles and Practice (6th ed.). Elsevier. ISBN 978-1-4377-2928-3. 
  2. Kawalec, Wanda (2015). Pediatria. Warsaw: PZWL. pp. 1070. ISBN 978-83-200-4631-1. 
  3. Elastase, neutrophil-expressed; ELANE. Online Mendelian Inheritance in Man. Johns Hopkins University. [1]
  4. WAS gene; WAS. Online Mendelian Inheritance in Man. Johns Hopkins University. [2]
  5. "Kostmann syndrome and severe congenital neutropenia". Semin. Hematol. 39 (2): 82–8. 2002. doi:10.1053/shem.2002.31913. PMID 11957189. http://linkinghub.elsevier.com/retrieve/pii/S0037196302500172. 
  6. Xia J, Bolyard AA, Rodger E et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009;147(4):535. PMID|19775295
  7. Germeshausen, M., Deerberg, S., Peter, Y., et al. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum. Mutat. 34: 905-914, 2013. PMID|23463630]
  8. Neutropenia, Severe Congenital, 2, Autosomal Dominant; SCN2. Online Mendelian Inheritance in Man. Johns Hopkins University. [3]
  9. Neutropenia, Severe Congenital, 4, Autosomal Recessive; SCN4. Online Mendelian Inheritance in Man. Johns Hopkins University. [4]
  10. Neutropenia, Severe Congenital, 5, Autosomal Recessive; SCN5. Online Mendelian Inheritance in Man. Johns Hopkins University. [5]
  11. "The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy". Blood 121 (25): 5078–87. June 2013. doi:10.1182/blood-2012-12-475566. PMID 23599270. http://bloodjournal.hematologylibrary.org/cgi/pmidlookup?view=long&pmid=23599270. 
  12. Neutropenia, Severe Congenital, X-linked; SCNX. Online Mendelian Inheritance in Man. Johns Hopkins University. [6]
  13. Online Mendelian Inheritance in Man (OMIM) Neutropenia, Severe congenital, 3, Autosomal recessive; SCN3 -610738 https://omim.org/entry/610738
  14. "Congenital neutropenia". Clin Perinatol 31 (1): 29–38. 2004. doi:10.1016/j.clp.2004.03.011. PMID 15183654. http://linkinghub.elsevier.com/retrieve/pii/S0095510804000120. 
  15. Kostmann R (1956). "Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria.". Acta Paediatr 45 (Suppl 105): 1–78. doi:10.1111/j.1651-2227.1956.tb06875.x. PMID 13326376.  https://dx.doi.org/10.1111%2Fj.1651-2227.1956.tb06875.x
  16. Klein, C.; Grudzien, M.; Appaswamy, G.; Germeshausen, M.; Sandrock, I.; Schäffer, A. A.; Rathinam, C.; Boztug, K. et al. (Jan 2006). "HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)". Nature Genetics 39 (1): 86–92. doi:10.1038/ng1940. PMID 17187068.  https://dx.doi.org/10.1038%2Fng1940
  17. McDermott DH, De Ravin SS, Jun HS et al. Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. Blood. 2010;116(15):2793. PMID|20616219
  18. "Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations". Cancer Medicine 4 (4): 490–9. April 2015. doi:10.1002/cam4.384. PMID 25619630.  http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=4402062
  19. "GATA factor mutations in hematologic disease". Blood 129 (15): 2103–2110. April 2017. doi:10.1182/blood-2016-09-687889. PMID 28179280.  http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=5391620
  20. "Heterogeneity of GATA2-related myeloid neoplasms". International Journal of Hematology 106 (2): 175–182. August 2017. doi:10.1007/s12185-017-2285-2. PMID 28643018.  https://dx.doi.org/10.1007%2Fs12185-017-2285-2
  21. Essential Haematology. Blackwell Publishing. 2005. ISBN 978-1-4051-3649-5. 
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