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ENSevere Congenital Neutropenia
Alias:
Congenital Neutropenia
Neutropenia, Severe Congenital
Severe Infantile Genetic Neutropenia
Infantile Genetic Agranulocytosis
Congenital Agranulocytosis
Kostmann's Agranulocytosis
Kostmann's Syndrome
Kostmann Disease
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Severe Congenital Neutropenia, also known as congenital neutropenia, is related to severe congenital neutropenia 4 and neutropenia, severe congenital, x-linked. An important gene associated with Severe Congenital Neutropenia is CSF3R (Colony Stimulating Factor 3 Receptor), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PAK Pathway. The drugs Alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone and liver, and related phenotypes are endocrine/exocrine gland and immune system
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