Association of chronic symptomatic neutropenia with the triple A syndrome.
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.
Spiegel
Ronen
R
Pediatric Department A, Ha'Emek Medical Center, Afula, Israel. spiegelr@zahav.net.il
Shalev
Stavit
S
Huebner
Angela
A
Horovitz
Yoseph
Y
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
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins; D000324:Adrenocorticotropic Hormone