title: A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase.
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.
authors.affiliation: Department of Pediatric Hematology-Oncology, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: X L
authors.initials: XL
authors.lastname: Wu
authors.affiliation: Department of Pediatric Hematology-Oncology, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: X Q
authors.initials: XQ
authors.lastname: Zhao
authors.affiliation: Department of Pediatric Hematology-Oncology, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: B X
authors.initials: BX
authors.lastname: Zhang
authors.affiliation: Department of Pediatric Hematology-Oncology, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: F
authors.initials: F
authors.lastname: Xuan
authors.affiliation: Department of Pediatric Hematology-Oncology, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: H M
authors.initials: HM
authors.lastname: Guo
authors.affiliation: Department of Pediatric Hematology-Oncology, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: F T
authors.initials: FT
authors.lastname: Ma
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D057210:Delayed Diagnosis; D016368:Frameshift Mutation; D006197:Hair / Q000473:pathology; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics / Q000473:pathology; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics; D008297:Male; D011014:Pneumonia / Q000000981:diagnostic imaging / Q000235:genetics; D012867:Skin / Q000473:pathology; D016896:Treatment Outcome