Article
Recurrent macrophage activation syndrome associated with heterozygous perforin W374X gene mutation in a child with systemic juvenile idiopathic arthritis.
Journal of pediatric hematology/oncology - 1 Jul 2013
Unal Sule, Balta Gunay, Okur Hamza, Aytac Selin, Cetin Mualla, Gumruk Fatma, Ozen Seza, Gurgey Aytemiz
Abstract excerpt
BACKGROUND: Recurrent macrophage activation syndrome (MAS) is rarely reported. AIM: To describe recurrent MAS in a 2.5-year-old girl with systemic juvenile idiopathic arthritis and heterozygous perforin mutation, which may have a role in the patient's first recurrence despite use of the HLH-2004...
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