title: Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID).
abstract: Adenosin deaminase (ADA) deficiency is the cause for Severe Combined Immunodeficiency (SCID) in about 15% of patients with SCID, often presenting as T (-)B (-)NK (-)SCID. Treatment options for ADA-SCID are enzyme replacement, bone marrow transplantation or gene therapy. We here describe the first patient with ADA-SCID and fatal hepatic failure despite bone marrow transplantation from a 10/10 HLA identical related donor. As patients with ADA-SCID may be at yet underestimated increased risk for rapid hepatic failure we speculate whether hepatitis in ADA-SCID should lead to the immediate treatment with enzyme replacement by pegylated ADA.
authors.affiliation: University Hospital Berlin, Department for Pediatric Hematology and Oncology, Berlin, Germany.
authors.forename: J S
authors.initials: JS
authors.lastname: Kühl
authors.forename: K
authors.initials: K
authors.lastname: Schwarz
authors.forename: A
authors.initials: A
authors.lastname: Münch
authors.forename: M
authors.initials: M
authors.lastname: Schmugge
authors.forename: A
authors.initials: A
authors.lastname: Pekrun
authors.forename: C
authors.initials: C
authors.lastname: Meisel
authors.forename: V
authors.initials: V
authors.lastname: Wahn
authors.forename: W
authors.initials: W
authors.lastname: Ebell
authors.forename: H
authors.initials: H
authors.lastname: von Bernuth
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency / Q000235:genetics; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D016026:Bone Marrow Transplantation; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006530:Hepatorenal Syndrome / Q000175:diagnosis / Q000235:genetics; D006639:Histidine / Q000235:genetics; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D007223:Infant; D007231:Infant, Newborn; D007958:Leukocyte Count; D017093:Liver Failure / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D008111:Liver Function Tests; D008213:Lymphocyte Activation / Q000235:genetics / Q000276:immunology; D020125:Mutation, Missense; D009504:Neutrophils / Q000276:immunology; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
chemical_list: D006639:Histidine; D001120:Arginine; D000243:Adenosine Deaminase