Alpha 1-antitrypsin deficiency in a child with X-linked lymphoproliferative disease.

Academic Article


  • An 18-month-old white male infant with X-linked lymphoproliferative disease was evaluated for persistent hepatic dysfunction following primary Epstein-Barr virus infection. A liver biopsy revealed cirrhosis with a dense mononuclear cell infiltrate. These findings were confounding because cirrhosis is not a typical finding in either normal or immunodeficient individuals following infection with Epstein-Barr virus. An alpha 1-antitrypsin level obtained shortly after biopsy was spuriously within the lower limits of the physiologic range. Further investigation demonstrated a homozygous Z phenotype, the classic protease inhibitor variant described in alpha 1-antitrypsin deficiency. A repeat liver biopsy confirmed the presence of a second hereditary disease. This is a unique concurrence of two uncommon genetic disorders.
  • Authors


  • Genetic Linkage, Humans, Infant, Liver, Liver Cirrhosis, Lymphoproliferative Disorders, Male, Pedigree, Serine Proteinase Inhibitors, X Chromosome, alpha 1-Antitrypsin, alpha 1-Antitrypsin Deficiency
  • Pubmed Id

  • 23735359
  • Author List

  • Skoda-Smith S; Mroczek-Musulman E; Galliani C; Atkinson TP; Watts RG
  • Start Page

  • 996
  • End Page

  • 999
  • Volume

  • 121
  • Issue

  • 9