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.
© Georg Thieme Verlag KG Stuttgart · New York.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adenosine Deaminase / deficiency
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Adenosine Deaminase / genetics
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Agammaglobulinemia / diagnosis
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Agammaglobulinemia / genetics
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Agammaglobulinemia / therapy
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Amino Acid Substitution / genetics
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Arginine / genetics
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Bone Marrow Transplantation
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Consanguinity
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Exons / genetics
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Fatal Outcome
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Female
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Hepatorenal Syndrome / diagnosis
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Hepatorenal Syndrome / genetics
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Histidine / genetics
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Humans
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Hyperbilirubinemia, Neonatal / diagnosis*
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Hyperbilirubinemia, Neonatal / genetics
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Hyperbilirubinemia, Neonatal / immunology
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Infant
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Infant, Newborn
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Leukocyte Count
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Liver Failure / diagnosis*
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Liver Failure / genetics
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Liver Failure / immunology
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Liver Function Tests
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Lymphocyte Activation / genetics
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Lymphocyte Activation / immunology
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Mutation, Missense
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Neutrophils / immunology
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Severe Combined Immunodeficiency / diagnosis
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Severe Combined Immunodeficiency / genetics
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Severe Combined Immunodeficiency / therapy
Substances
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Histidine
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Arginine
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Adenosine Deaminase
Supplementary concepts
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Severe combined immunodeficiency due to adenosine deaminase deficiency