A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis

Korean Journal of Pediatrics

Volumn 57, Issue 1, 2014, Pages 50-53

  Kim, Jae Yeon ^a   Shin, Jeong Hee ^a   Sung, Se In ^a   Kim, Jin Kyu ^a   Jung, Ji Mi ^a   Ahn, So Yoon ^a   Kim, Eun Sun ^a   Seo, Ja Young ^a   Kang, Eun Sook ^a   Kim, Sun Hee ^a   Kim, Hee Jin ^a   Chang, Yun Sil ^a   Park, Won Soon ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

FHL2; Mutation; Neonate; PRF1

Indexed keywords

ANTIBIOTIC AGENT; CORTICOSTEROID; CYCLOSPORIN; DEXAMETHASONE; ETOPOSIDE; IMMUNOGLOBULIN; PERFORIN; PRF 1 PROTEIN; UNCLASSIFIED DRUG;

ANEMIA; ARTICLE; ARTIFICIAL VENTILATION; BLEEDING; BLOOD CLOTTING DISORDER; CASE REPORT; CHEMOTHERAPY; CONTINUOUS HEMODIAFILTRATION; FEMALE; FEVER; FLOW CYTOMETRY; GENE MUTATION; HEMOPHAGOCYTIC SYNDROME; HEPATOSPLENOMEGALY; HUMAN; LEUKOPENIA; MOANING; MOTTLING; NEWBORN; NEWBORN SEPSIS; RESPIRATORY DISTRESS; SKIN BRUISING; THROMBOCYTOPENIA;

EID: 84892613763     PISSN: 17381061     EISSN: 20927258     Source Type: Journal    
DOI: 10.3345/kjp.2014.57.1.50     Document Type: Article

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