Familial haemophagocytosis lymphohisticytosis type 3: A case report.
Arch Pediatr
; 24(1): 33-35, 2017 Jan.
Article
en 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
Banco de datos:
MEDLINE
Asunto principal:
Linfohistiocitosis Hemofagocítica
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Infant
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Male
Idioma:
En
Revista:
Arch Pediatr
Año:
2017
Tipo del documento:
Article