Association of chronic symptomatic neutropenia with the triple A syndrome.

[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 .