Hemophagocytic lymphohistiocytosis associated with synergistic defects of ap3b1 and atm genes: a case report and literature review

HIGHLIGHTS

  • who: Guangjiao Yin and colleagues from the Department of Geriatrics, Zhongnan Hospital of Wuhan University, Wuhan, China have published the research: Hemophagocytic Lymphohistiocytosis Associated with Synergistic Defects of AP3B1 and ATM Genes: A Case Report and Literature Review, in the Journal: (JOURNAL)
  • what: The authors report a case of a 14-year-old male diagnosed with fulminant HLH that might be associated with AP3B1 and ATM genes` mutation.
  • how: Sequencing results showed that the father was all wild-type and the zygous mutation either in his mother or the patient.

SUMMARY . . .

 

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