A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis / 소아과
Korean Journal of Pediatrics
;
: 50-53, 2014.
Article
in English
| WPRIM
| ID: wpr-48150
ABSTRACT
Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with severe sepsis-like features and required mechanical ventilation and continuous venovenous hemodiafiltration. Flow cytometry analysis showed marked HLH and complete absence of intracytoplasmic perforin expression in cytotoxic cells; therefore, we performed molecular genetic analyses for PRF1 mutations, which showed that the patient had a compound heterozygous mutation in PRF1, that is, c.65delC (p.Pro22Argfs*2) and c.1090_1091delCT (p.Leu364Glufs*93). Clinical and genetic assessments for FHL are required for neonates with refractory fever and progressive multiple organ failure, particularly when there is no evidence of microbiological or metabolic cause.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Respiration, Artificial
/
Frameshift Mutation
/
Hemodiafiltration
/
Lymphohistiocytosis, Hemophagocytic
/
Perforin
/
Fever
/
Flow Cytometry
/
Molecular Biology
/
Multiple Organ Failure
Limits:
Humans
/
Infant, Newborn
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2014
Type:
Article
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