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Metabolic Findings in a Patient with Adenosine Deaminase Deficiency and Severe Combined Immunodeficiency

  • Erminia De Carapella-Luca
  • Michele Stegagno
  • Paola Lucarelli
  • Armando Signoretti
  • Carlo Imperato
  • Sybe K. Wadman
  • Albert Leyva
  • Alberto Astaldi
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

Although more than 30 families with adenosine deaminase (ADA) deficiency and severe combined immunodeficiency (SCID) have been described the precise mechanism through which the deficiency of ADA produces immunodeficiency is still unknown. Only in the past few years the investigations on purine metabolites in some patients with ADA deficiency and SCID1-4 have enhanced our understanding of the immune dysfunction. Here we describe the metabolic findings observed in a 10 week-old girl with SCID and ADA deficiency. The patient was hospitalized for respiratory distress and mucocutaneous Candidiasis. Severe impairment of both cellular and humoral immunity was found. The ADA activity was measured5 in a red cell hemolysate and was found to be absent. The ADA level in the mother’s red cells was 0.07Δ E293 nm/hour/mg hemoglobin (normal x= 0.231±0.080) and in the father’s red cells 0.14. The patient worsened rapidly and died 3 weeks later. Autopsy confirmed the diagnosis of SCID with presence of Candida in the lung, kidney, heart and brain.

Keywords

High Performance Liquid Chromatography Adenosine Deaminase Severe Combine Immunodeficiency Purine Nucleoside Phosphorylase Severe Combine Immunodeficiency Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 1984

Authors and Affiliations

  • Erminia De Carapella-Luca
    • 1
    • 2
    • 3
  • Michele Stegagno
    • 1
    • 2
    • 3
  • Paola Lucarelli
    • 1
    • 2
    • 3
  • Armando Signoretti
    • 1
    • 2
    • 3
  • Carlo Imperato
    • 1
    • 2
    • 3
  • Sybe K. Wadman
    • 1
    • 2
    • 3
  • Albert Leyva
    • 1
    • 2
    • 3
  • Alberto Astaldi
    • 1
    • 2
    • 3
  1. 1.Ist. Puericultura, Centro Genetica Evol.CNR, II Clinica PediatricaUniversità di RomaItaly
  2. 2.Utrecht Natl.Cancer Inst.University Children’s HospitalAmsterdamThe Netherlands
  3. 3.Smith Kline & FrenchMilanoItaly

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