TY  - JOUR
TI  - A Fatal Case of Familial Hemophagocytic Lymphohistiocytosis Associated with Fusarium Infection and Rare Mutation
AB  - Background: Hemophagocytic lymphohistiocytosis (HLH) is classified as primary or secondary. While primary (familial) HLH is caused by genetic mutations, secondary (acquired, reactive) HLH is the type that has an underlying cause and is not associated with genetic mutations. Case Report: We report a two-year-old female patient with a fatal course of Fusarium sepsis who was diagnosed with primary HLH. A homozygous variant of PRF1 (c.445G > A, p.Gly149Ser) was detected. Hyphal growth was detected on Sabouraud dextrose agar and Fusarium multiplied in blood cultures. The patient’s clinical course was fulminant, and she died of septic shock 4 days after admission to the hospital. Fusarium, a rare infection in HLH, was found in this case. Conclusion: We discovered the rare PRF1 (c.445G>A, p.Gly149Ser) mutation in HLH and the high morbidity and mortality associated with Fusarium infection.
AU  - UNAL, Ekrem
AU  - Klein, Christoph
AU  - Dündar, Mehmet Akif
AU  - ORAK, FİLİZ
AU  - Acıpayam, Can
AU  - Aslan, Kübra
AU  - gök, veysel
AU  - Cetin, Benhur
AU  - Akyıldız, Basak Nur
DO  - 10.14744/etd.2022.33866
PY  - 2023
JO  - Erciyes Medical Journal
VL  - 45
IS  - 2
SN  - 2149-2247
SP  - 207
EP  - 210
DB  - TRDizin
UR  - http://search/yayin/detay/1174233
ER  -