title: Association of chronic symptomatic neutropenia with the triple A syndrome.
abstract: 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.
authors.affiliation: Pediatric Department A, Ha'Emek Medical Center, Afula, Israel. spiegelr@zahav.net.il
authors.forename: Ronen
authors.initials: R
authors.lastname: Spiegel
authors.forename: Stavit
authors.initials: S
authors.lastname: Shalev
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
authors.forename: Yoseph
authors.initials: Y
authors.lastname: Horovitz
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000150:complications* / Q000503:physiopathology; D000324:Adrenocorticotropic Hormone / Q000097:blood; D002648:Child; D004931:Esophageal Achalasia / Q000209:etiology / Q000235:genetics / Q000601:surgery; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins; D009503:Neutropenia / Q000209:etiology*; D028861:Nuclear Pore Complex Proteins; D011506:Proteins / Q000235:genetics*; D014985:Xerophthalmia / Q000209:etiology / Q000235:genetics
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins; D000324:Adrenocorticotropic Hormone