Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chronic neutropenia syndromes include distinct hereditary disorders with varying degrees of neutropenia. Among the more common inherited disorders associated with symptomatic neutropenia are cyclic neutropenia, severe congenital neutropenia (Kostmann disease), and Schwachman-Diamond syndrome. The authors describe a 17-year-old girl with triple A syndrome who developed a progressive decrease in the granulocyte count, finally resulting in long-standing neutropenia. Its probable pathogenesis may be related to dysfunction of ALADIN (the protein known to be mutated in triple A syndrome), resulting in abnormal nucleocytoplasmic transport of essential proteins, in myeloid precursor cells. Chronic neutropenia should therefore be considered among the clinical manifestations of triple A syndrome.
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PMID:Association of chronic symptomatic neutropenia with the triple A syndrome. 1565 81