Kostmann syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Phone:617-525-6884

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Overview

Kostmann syndrome also known as Severe Congenital Neutropenia (SCN) is a rare inherited form of Severe Chronic Neutropenia usually detected soon after birth. It was discovered in 1956 by Swedish doctor Kostmann. A absolute neutrophil count (ANC) chronically less than 500/mm3 is the main sign of Kostmann's. A standard bone marrow test can give correct diagnosis.

Morphology: bone marrow usually shows the presence of early granulocytes (promyelocyte/myelocyte arrest) but few maturing forms are seen; neutrophil survival is normal.

Pathophysiology: though the underlying genetic defect in myeloid precursor cells is not entirely elucidated, mutations in the gene (ELA2) encoding neutrophil elastase appear to be present in most patients. These mutations may be responsible for the untimely initiation of apoptosis in myelocytes, producing their premature destruction, and interrupting the normal cycle of maturation. There may be, in addition, other underlying molecular/genetic changes producing DNA mutations and genome instability, which contribute to initiation and progression of this disease.

References

• KOSTMANN R (1956). "Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria.". Acta Paediatr 45 (Suppl 105): 1-78. PMID 13326376.

Christensen and Calhoun, 2004. Christensen RD, Calhoun DA: Congenital neutropenia. Clin Perinatol 2004; 31:29-38.

Zeidler and Welte, 2002. Zeidler C, Welte K: Kostmann syndrome and severe congenital neutropenia. Semin Hematol 2002; 39:82-88.

See also

• Neutropenia
• Granulocyte colony-stimulating factor

External Links

Kostmann defined at:

eMedicine

Medicine Net

Neutropenia.ca

Support Groups:

Severe Chronic Neutropenia International Registry

Neutropenia.ca

Acknowledgements

The content on this page was first contributed by: C. Michael Gibson, M.S., M.D.

Initial content for this page in some instances may have came from Wikipedia and AskDrWiki

Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources:

1.The Disease Database

2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3

3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7

List of contributors:

Suggested Reading and Key General References

Suggested Links and Web Resources

For Patients

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de:Kostmann-Syndrom sv:Kostmanns sjukdom

v • d • e WikiDoc Research Resources for Kostmann syndrome (Click show to right to view)
Articles on Kostmann syndrome	Most recent articles on Kostmann syndrome • Most cited articles on Kostmann syndrome • Review articles on Kostmann syndrome • Articles on Kostmann syndrome in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Kostmann syndrome	Powerpoint slides on Kostmann syndrome • Images of Kostmann syndrome • Photos of Kostmann syndrome • Podcasts & MP3s on Kostmann syndrome • Videos on Kostmann syndrome
Evidence Based Medicine Regarding Kostmann syndrome	Cochrane Collaboration on Kostmann syndrome • Bandolier on Kostmann syndrome • TRIP on Kostmann syndrome
Cost Effectiveness of Kostmann syndrome	Cost Effectiveness of Kostmann syndrome
Clinical Trials Involving Kostmann syndrome	Ongoing Trials on Kostmann syndrome at Clinical Trials.gov • Trial results on Kostmann syndrome • Clinical Trials on Kostmann syndrome at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Kostmann syndrome	US National Guidelines Clearinghouse on Kostmann syndrome • NICE Guidance on Kostmann syndrome • NHS PRODIGY Guidance • FDA on Kostmann syndrome • CDC on Kostmann syndrome
Textbook Information on Kostmann syndrome	Books and Textbook Information on Kostmann syndrome
Pharmacology Resources on Kostmann syndrome	Dosing of Kostmann syndrome • Drug interactions with Kostmann syndrome • Side effects of Kostmann syndrome • Allergic reactions to Kostmann syndrome • Overdose information on Kostmann syndrome • Carcinogenicity information on Kostmann syndrome • Kostmann syndrome in pregnancy • Pharmacokinetics of Kostmann syndrome •
Genetics, Pharmacogenomics, and Proteinomics of Kostmann syndrome	Genetics of Kostmann syndrome • Pharmacogenomics of Kostmann syndrome • Proteomics of Kostmann syndrome
Newstories on Kostmann syndrome	Kostmann syndrome in the news • Be alerted to news on Kostmann syndrome • News trends on Kostmann syndrome
Commentary on Kostmann syndrome	Blogs on Kostmann syndrome
Patient Resources on Kostmann syndrome	Patient resources on Kostmann syndrome • Discussion groups on Kostmann syndrome • Patient Handouts on Kostmann syndrome • Directions to Hospitals Treating Kostmann syndrome • Risk calculators and risk factors for Kostmann syndrome
Healthcare Provider Resources on Kostmann syndrome	Symptoms of Kostmann syndrome • Causes & Risk Factors for Kostmann syndrome • Diagnostic studies for Kostmann syndrome • Treatment of Kostmann syndrome
Continuing Medical Education (CME) Programs on Kostmann syndrome	CME Programs on Kostmann syndrome
International Resources on Kostmann syndrome	Kostmann syndrome en Espanol • Kostmann syndrome en Francais
Business Resources on Kostmann syndrome	Kostmann syndrome in the Marketplace • Patents on Kostmann syndrome
Informatics Resources on Kostmann syndrome	List of terms related to Kostmann syndrome

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .