A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
Braz. j. med. biol. res; 50 (4), 2017
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 ph...
Síndrome de Chediak-Higashi/tratamiento farmacológico, Síndrome de Chediak-Higashi/genética, Síndrome de Chediak-Higashi/patología, Diagnóstico Tardío, Mutación del Sistema de Lectura, Cabello/patología, Hipopigmentación/genética, Hipopigmentación/patología, Linfohistiocitosis Hemofagocítica/genética, Neumonía/diagnóstico por imagen, Neumonía/genética, Piel/patología, Resultado del Tratamiento