A patient with adenosine deaminase deficiency may develop pulmonary alveolar proteinosis (PAP).
Adenosine deaminase deficiency is associated with a severe combined immunodeficiency (SCID).
Clinical and laboratory features:
(1) adenosine deaminase deficiency with severe combined immunodeficiency
(2) respiratory symptoms triggered by lung infections, often with interstitial pneumonitis
PAP recognition - one or both of the following:
(1) BAL showing PAS-positive surfactant like material with macrophages engulfing lamellar bodies
(2) lung biopsy showing alveolar spaces filled with a homogeneous granular eosinophilic material and large macrophages
The PAP can be reversed by adenosine deaminase replacement (through coupling with polyethylene glycol) or allogeneic hematopoietic stem cell transplantation.
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