Adenosine deaminase 1 deficiency, an inborn error of metabolism underlying a severe form of combined immunodeficiency

作者：Giraud A^*; Lavocat M P; Cremillieux C; Patural H; Thouvenin S; David A; Perignon J L; Stephan J L

来源：Archives de Pediatrie, 2015, 22(6): 630-635.

DOI：10.1016/j.arcped.2015.02.017

Severe combined immune deficiencies (SCIDs) are a heterogeneous group of severe cellular immunodeficiencies. Early diagnosis is essential to allow adapted care before life-threatening systemic infections or complications associated with live vaccines. Adenosine deaminase 1 deficiency (ADA1) is an inborn error of metabolism leading to severe lymphopenia and characteristic bone lesions. Herein, we present the typical case of a child in whom ADA SCID was diagnosed at 2 months of life, revealed by lung involvement and extreme lymphopenia. Immune restoration in terms of peripheral lymphocyte count with enzyme replacement therapy, namely pegylated bovine ADA, is satisfactory so far. The search for a compatible donor is underway. Correcting the genetic defect by gene transfer is also being considered. The phenotype of this very rare condition is described. A severe peripheral lymphopenia in a young child is a finding of utmost importance for the diagnosis of a primary cellular immunodeficiency.

• 出版日期2015-6