Reticular dysgenesis: a very rare and fatal immunodeficiency disease
Alexandria Journal of Pediatrics. 2009; 23 (2): 19-22
em Inglês
| IMEMR
| ID: emr-145774
ABSTRACT
Human severe combined immunodeficiency [SCID] represents a group of rare, often fatal, congenital disorders characterized by little or no immune response. Reticular dysgenesis [RD] is the most severe form of inborn SCID. Until recently, its genetic basis was unknown. It is only in 2008, that a gene defect has been described. We present here, a unique hematological phenotype of RD with a dramatic clinical course. The paucity of such cases in the literature, merits this report
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Fenótipo
/
Adenilato Quinase
/
Consanguinidade
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Alex. J. Pediatr.
Ano de publicação:
2009
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