• Yuanyuan Chen, Zhujun Wang, Yuping Cheng, and Yongmin Tang.
• Division of Hematology-Oncology, Children's Hospital of Zhejiang University School of Medicine, #57, Zhuganxiang Road, Yan-an Street, Hangzhou 310003, PR China.
• Yonsei Med. J. 2013 Jul 1; 54 (4): 105310571053-7.

AbstractHemophagocytic lymphohistiocytosis (HLH) in different ethnicities has been described in the literature, but few cases in patients of Chinese descent have been reported. Here, we describe the case of a Chinese neonate presenting with HLH carrying novel, compound heterozygous mutations of the UNC13D gene, including [c.2295_2298delGCAG, p.Glu765Aspfs*27] in exon 23, c.-250C>T, c.1+30G>A, c.279C>T, c.888G>C, c.18+36A>G, c.20-48T>C, c.1977C>T, c.2296C>T, c.24-46C>T, c.26-9_26-8insC, c.2599A>G, c.28+48C>T and c.3198A>G, some of which have not been reported in the literature. Cytokine profile analyses were performed in this patient, and the results were consistent with our previous findings in HLH patients. Cytokine profile monitoring may be helpful in differentiating among various clinical phases of HLH.

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