title: Alpha 1-antitrypsin deficiency in a child with X-linked lymphoproliferative disease.
abstract: 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.affiliation: Division of Allergy, University of Alabama, Birmingham 35233, USA.
authors.forename: S
authors.initials: S
authors.lastname: Skoda-Smith
authors.forename: E
authors.initials: E
authors.lastname: Mroczek-Musulman
authors.forename: C
authors.initials: C
authors.lastname: Galliani
authors.forename: T P
authors.initials: TP
authors.lastname: Atkinson
authors.forename: R G
authors.initials: RG
authors.lastname: Watts
mesh_terms: D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008103:Liver Cirrhosis / Q000201:enzymology / Q000209:etiology / Q000473:pathology; D008232:Lymphoproliferative Disorders / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D008297:Male; D010375:Pedigree; D015842:Serine Proteinase Inhibitors / Q000172:deficiency* / Q000235:genetics; D014960:X Chromosome; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D015842:Serine Proteinase Inhibitors; D000515:alpha 1-Antitrypsin