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Hemophagocytic 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&gt;T, c.1+30G&gt;A, c.279C&gt;T, c.888G&gt;C, c.18+36A&gt;G, c.20-48T&gt;C, c.1977C&gt;T, c.2296C&gt;T, c.24-46C&gt;T, c.26-9_26-8insC, c.2599A&gt;G, c.28+48C&gt;T and c.3198A&gt;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.

Novel Mutations in the UNC13D Gene Carried by a Chinese Neonate with Hemophagocytic Lymphohistiocytosis