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
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Conversano, E., Amoroso, S., Tommasini, A. (2019). Recurrent Respiratory Infection and Hypereosinophilia. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_30
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DOI: https://doi.org/10.1007/978-3-030-21262-9_30
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