A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
Braz. j. med. biol. res
;
50(4): e5727, 2017. tab, graf
Article
Dans Anglais
| LILACS
| ID: biblio-839284
ABSTRACT
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase. After 8 weeks of therapy, the boy had remission and was prepared for allogenic stem cell transplantation.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Syndrome de Chediak-Higashi
/
Mutation avec décalage du cadre de lecture
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
/
Bébé
/
Mâle
langue:
Anglais
Texte intégral:
Braz. j. med. biol. res
Thème du journal:
Biologie
/
Médicament
Année:
2017
Type:
Article
Pays d'affiliation:
Chine
Institution/Pays d'affiliation:
Hebei Medical University/CN
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS