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Association of Chronic Symptomatic Neutropenia With the Triple A Syndrome
- Source :
- Journal of Pediatric Hematology/Oncology. 27:53-55
- Publication Year :
- 2005
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2005.
-
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.
- Subjects :
- medicine.medical_specialty
Neutropenia
Myeloid
Adolescent
Mutation, Missense
Nerve Tissue Proteins
Disease
Triple-A syndrome
Gastroenterology
Pathogenesis
Cyclic neutropenia
Adrenocorticotropic Hormone
hemic and lymphatic diseases
Internal medicine
Xerophthalmia
medicine
Adrenal insufficiency
Humans
Child
Congenital Neutropenia
business.industry
Proteins
Hematology
medicine.disease
Esophageal Achalasia
Nuclear Pore Complex Proteins
medicine.anatomical_structure
Oncology
Pediatrics, Perinatology and Child Health
Female
business
Adrenal Insufficiency
Subjects
Details
- ISSN :
- 10774114
- Volume :
- 27
- Database :
- OpenAIRE
- Journal :
- Journal of Pediatric Hematology/Oncology
- Accession number :
- edsair.doi.dedup.....00add0b3e3064bdae70b66aee7c75b63