Recurrent macrophage activation syndrome associated with heterozygous perforin w374x gene mutation in a child with systemic juvenile idiopathic arthritis

Journal of Pediatric Hematology/Oncology

Volumn 35, Issue 5, 2013, Pages

  Unal, Sule ^a   Balta, Gunay ^a   Okur, Hamza ^a   Aytac, Selin ^a   Cetin, Mualla ^a   Gumruk, Fatma ^a   Ozen, Seza ^a   Gurgey, Aytemiz ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Familial HLH; Hemophagocytic lymphohistiocytosis; Macrophage activation syndrome; MAS; Perforin gene; SJIA; Systemic juvenile idiopathic arthritis; W374X mutation

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CYCLOSPORIN A; ETANERCEPT; ETOPOSIDE; FERRITIN; METHYLPREDNISOLONE; PERFORIN; PREDNISOLONE;

ARTHRALGIA; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHILD; CLINICAL PROTOCOL; DISEASE ASSOCIATION; ERYTHROCYTE SEDIMENTATION RATE; ERYTHROPHAGOCYTOSIS; FEMALE; FERRITIN BLOOD LEVEL; FEVER; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; HYPERFERRITINEMIA; HYPERTRANSAMINASEMIA; HYPERTRIGLYCERIDEMIA; JUVENILE RHEUMATOID ARTHRITIS; MACROPHAGE ACTIVATION SYNDROME; MACULOPAPULAR RASH; MUTATIONAL ANALYSIS; PANCYTOPENIA; PERFORIN GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; TREATMENT REFUSAL;

ARTHRITIS, JUVENILE RHEUMATOID; CHILD, PRESCHOOL; FEMALE; HUMANS; MACROPHAGE ACTIVATION SYNDROME; MUTATION; PERFORIN;

EID: 84880303609     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e31827b4859     Document Type: Article

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