Familial haemophagocytosis lymphohisticytosis type 3: A case report.
Arch Pediatr
; 24(1): 33-35, 2017 Jan.
Article
em En
| MEDLINE
| ID: mdl-27914778
ABSTRACT
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder of immune regulation. Here, we report on a fatal case of type 3 FHL (FHL3) in a 45-day-old boy. Clinically, the infant presented with fever and hepatosplenomegaly. Biology showed pancytopenia, elevated ferritin, and decreased fibrinogen. Images of hemophagocytosis were found at the bone morrow examination. The diagnosis of FHL type 3 was made by the identification of homozygous mutation in the Munc13-4 gene (UNC13D) located in exon 20 1822 del 12bp (V608fs). This mutation was previously observed in a Tunisian and in Moroccan families.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linfo-Histiocitose Hemofagocítica
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Arch Pediatr
Ano de publicação:
2017
Tipo de documento:
Article