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.

Zusammenfassung

Adenosindeaminasemangel (ADA-Mangel) ist bei 15% aller Patienten mit schwerem kombiniertem Immundefekt (SCID) ursächlich für die Erkrankung und präsentiert sich üblicherweise als T^-B^-NK^-SCID. Behandlungsoptionen für ADA-Mangel sind Enzymersatztherapie, Knochenmarktransplantation und Gentherapie. Wir beschreiben hier den ersten Patienten mit ADA-SCID und tödlichem Leberversagen trotz Knochenmarktransplantation von einem 10/10 HLA-identen verwandten Spender. Da Patienten mit ADA-SCID einem bisher unterschätzten Risiko für ein fulminantes Leberversagen ausgesetzt sein könnten, regen wir an, dass die Diagnose einer Hepatitis bei ADA-SCID-Patienten zum sofortigen Beginn einer Enyzmersatztherapie mit pegyliertem ADA führen sollte.

Key words

Severe Combined Immnodeficiency (SCID) - adenosin deaminase (ADA) Deficiency - hyperbilirubinemia - hepatitis - hepatic failure

Schlüsselwörter

schwerer kombinierter Immundefekt (SCID) - Adenosindeaminase-(ADA-) Defekt - Hyperbilirubinämie - Hepatitis - Leberversagen

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