Disease Information for Kostmann Syndrome

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Demographics & Risk Factors
Population Group
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Infant
Laboratory Tests
Abnormal Lab Findings - Decreased
WBC
Neutrophiles (Lab)
WBC/White Blood Cell Count/Leukocytes (Lab)
Diagnostic Test Results
Pathology
Bone Marrow/Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Acute Myelogenous/Myeloblastic Leukemia AML
Bacterial infection, general
Infections
Myelodysplasia
Neonatal pneumonia, bacterial
Pneumonia
Pneumonia, bacterial
Sepsis, overwhelming
Disease Mechanism & Classification
Class
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Gene locus 1p35
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Myelodysplasia process
Pathophysiology/Gene locus Chromosome 1p
Pathophysiology/GCSFR gene mutation
Pathophysiology/Gene locus 1p35-1p34.3
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Synonym/SCN, Synonym/Severe Congenital Neutropenia
Definition

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.

An 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.

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

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.

[Wikepedia online 2008]

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External Links Related to Kostmann Syndrome
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NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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