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An efficient diagnosis: A patient with X-linked inhibitor of apoptosis protein (XIAP) deficiency in the setting of infantile hemophagocytic lymphohistiocytosis was diagnosed using high serum interleukin-18 combined with common laboratory parameters.

Toru HiguchiKazushi IzawaTakayuki MiyamotoYoshitaka HondaAtsuko NishiyamaMasaki ShimizuJunko TakitaTakahiro Yasumi
Published in: Pediatric blood & cancer (2022)
Keyphrases
  • oxidative stress
  • endoplasmic reticulum stress
  • case report
  • cell cycle arrest
  • cell death
  • protein protein
  • amino acid
  • replacement therapy
  • binding protein
  • cell proliferation
  • signaling pathway