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Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency

  • Immunology/Allergology
  • Published:
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Abstract

We report a 2.3-year-old girl with complete lack of adenosine deaminase (ADA) activity who presented with severe atopic dermatitis and insulin-dependent diabetes mellitus but only mild recurrent infections. Abnormalities of immune function included profound depletion of CD8+ lymphocytes, hyperimmunoglobulinaemia E, and very low in vitro proliferative response to mitogens. Treatment with polyethylene glycol-conjugated ADA was followed by rapid amelioration of clinical and immunological conditions. The immunological and clinical features of this child suggest that the clinical spectrum of ADA deficiency may be broader than originally supposed.

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Abbreviations

ADA:

adenosine deaminase

IDDM:

insulin-dependent diabetes mellitus

PEG-ADA:

polyethylene glycol-modified ADA

PNP:

purine nucleoside phospharylase

SCID:

severe combined immunodeficiency

TCR:

T-cell antigen receptor

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Authors and Affiliations

  1. Department of Paediatrics, University of Brescia, c/o Spedali Civili, I-25123, Brescia, Italy

    L. D. Notarangelo, E. Mazzolari & A. G. Ugazio

  2. Department of Paediatrics, I Facoltà di Medicina e Chirurgia, University of Naples, Italy

    G. Stoppoloni & R. Toraldo

  3. Ospedale A, Cardarelli, Naples, Italy

    A. Coletta

  4. Servizio di Immunologia Clinica, University of Brescia, Italy

    P. Airò

  5. Haematology Service, Istituto Scientifico Ospedale S. Raffaele, Milan, Italy

    C. Bordignon

Authors
  1. L. D. Notarangelo
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  2. G. Stoppoloni
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  3. R. Toraldo
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  4. E. Mazzolari
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  5. A. Coletta
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  6. P. Airò
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  7. C. Bordignon
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  8. A. G. Ugazio
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Notarangelo, L.D., Stoppoloni, G., Toraldo, R. et al. Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency. Eur J Pediatr 151, 811–814 (1992). https://doi.org/10.1007/BF01957930

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  • DOI: https://doi.org/10.1007/BF01957930

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