Remission and relapse of hemophagocytic lymphohistiocytosis in a patient harboring a PRF1 homozygous mutation: a case report.
The aim of this paper was to describe a case of familial hemophagocytic lymphohistiocytosis (HLH) in a pediatric patient with a PRF1 homozygous mutation. An 8-year-old boy diagnosed with HLH was in remission after undergoing nonspecific treatment; however, merely 2 months later, he was presented at our hospital with a relapse of HLH. His genetic analysis showed that he had a homozygous mutation c.1066C>T in the PRF1 gene. Timely distinction of primary HLH from secondary HLH is critical.
Departments of *Virology Laboratory †Infection, Beijing Children's Hospital, The Capital Medical University, Beijing, China.
Zhizhuo
Z
Huang
Yali
Y
Wang
Zhengde
Z
Xie
Kunling
K
Shen
D002648:Child; D003937:Diagnosis, Differential; D006720:Homozygote; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D008297:Male; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*; D012008:Recurrence; D012074:Remission Induction
C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin