Wiskott-Aldrich Syndrome with Macrothrombocytopenia.
Indian Pediatr
;
2014 Dec; 51(12): 1015-1016
Artigo
em Inglês
| IMSEAR
| ID: sea-170975
ABSTRACT
Background:
Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype. Case Characteristics 3.5-year-old boy diagnosed with Wiskott- Aldrich syndrome. Observation Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome.Outcome:
Maternally inherited causative mutation in the exon 2 of the WAS gene was disclosed. Message This is a need for multidisciplinary assessment of patients with congenital or early infantile thrombocytopenia, including testing for mutations of the WAS gene in all unexplained cases even in the absence of characteristic microthrombocytopenia.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2014
Tipo de documento:
Artigo
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