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Recurrent macrophage activation syndrome since toddler age in an adolescent boy with HLA B27 positive juvenile ankylosing spondylitis
Joon Hyeong Park, Yu Mi Seo, Seung Beom Han, Ki Hwan Kim, Jung Woo Rhim, Nack Gyun Chung, Myung Shin Kim, Jin Han Kang, Dae Chul Jeong
Clin Exp Pediatr. 2016;59(10):421-424.   Published online October 17, 2016

Recurrent macrophage activation syndrome (MAS) is very rare. We present the case of an adolescent boy with human leukocyte antigen (HLA) B27-positive ankylosing spondylitis (AS), who experienced episodes of recurrent MAS since he was a toddler. A 16-year-old boy was admitted because of remittent fever with pancytopenia and splenomegaly after surgical intervention for an intractable perianal abscess. He had been...

A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
Eu Kyoung Lee, Yeun-Joo Eem, Nack-Gyun Chung, Myung Shin Kim, Dae Chul Jeong
Clin Exp Pediatr. 2013;56(6):265-268.   Published online June 21, 2013

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case...

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