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Recurrent Respiratory Infection and Hypereosinophilia

  • Ester Conversano
  • Stefano Amoroso
  • Alberto Tommasini
Chapter

Abstract

The diagnosis of late-onset Adenosine deaminase deficiency (ADA) deficiency should be suspected in progressive lymphopenia associated with hypereosinophilia and moderately high IgE level

Late onset ADA deficiency present after first year of life, with mild recurrent infections, especially of the respiratory tract

Early-onset eczema is highly indicative of immunodeficiency

ADA catalytic activity is <1% of normal control, established diagnosis of ADA deficiency and allows to start a therapy.

Enzyme replacement therapy should be started and continued as a bridge to gene therapy or hematopoietic stem cell transplantation

Keywords

Hypereosinophilia Severe combined immunodeficiency Adenosine deaminase deficiency PEGylated ADA 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Ester Conversano
    • 1
  • Stefano Amoroso
    • 1
  • Alberto Tommasini
    • 2
  1. 1.University of TriesteTriesteItaly
  2. 2.Institute for Maternal and Child Health IRCCS “Burlo Garofolo”TriesteItaly

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