BMC Med Genet 2017 11 21;18(1):135. Epub 2017 Nov 21.
School of Nursing, Zhengzhou University, Zhengzhou, Henan, 450052, China.
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Pediatr Blood Cancer 2012 Mar 14;58(3):410-4. Epub 2011 Jun 14.
Department of Virology Laboratory, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Background: This study aimed to investigate the prevalence of mutations in the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK in Chinese pediatric patients with EBV-HLH.
Methods: Sixty-seven pediatric patients diagnosed with EBV-HLH in Beijing Children's Hospital were recruited. Nucleotide sequences of all exons and their flanking intronic sequences of PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK were amplified by PCR followed by direct sequencing. Read More
BMC Med Genet 2018 May 21;19(1):82. Epub 2018 May 21.
School of Nursing, Zhengzhou University, Zhengzhou, 450052, Henan, China.
Background: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal recessive disorder with causative genes including HPLH1, PRF1, UNC13D, STX11 and STXBP2.
Case Presentation: Here, we reported an 8-month-old female patient with compound heterozygosity in the UNC13D gene. Read More
Haematologica 2010 Apr 16;95(4):622-6. Epub 2009 Dec 16.
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul, Korea.
Background: Familial hemophagocytic lymphohistiocytosis is a fatal disease characterized by immune dysregulation from defective function of cytotoxic lymphocytes. Three causative genes have been identified for this autosomal recessive disorder (PRF1, UNC13D, and STX11). We investigated the molecular genetics of familial hemophagocytic lymphohistiocytosis in Korea. Read More
BMC Med Genet 2018 Apr 12;19(1):60. Epub 2018 Apr 12.
Department of Hematology, the Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou, 450000, Henan, China.
Background: X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH). Causative mutations for XLP1 have been identified in SH2D1A, located on chromosome Xq25.
Case Presentation: We report a case of an 18-month-old male with a novel nonsense mutation in SH2D1A. Read More