Download Full Text (530 KB)
Introduction: Adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID) is characterized by severe lymphocytopenia affecting T-, and B-,lymphocytes, with non-immunological manifestations including neurodevelopmental deficits, sensorineural deafness, and skeletal abnormalities. Treatment modalities include enzyme replacement therapy(ERT) and/or autologous gene therapy or hematopoietic stem cell treatment. We report a 9-month-old female with ADA deficient T-B-NK+ SCID treated with ERT while awaiting stem cell treatment. Case Description: A 9-month-old female with a history of failure to thrive, hypotonia and loss of developmental milestones had genetic testing done that showed variants ADA c.911 T>G, c.302G>A. She was admitted for further work up. Lymphocyte subsets showed CD3 117 mm ^3, CD4 55 mm^3, CD8 50 mm ^3, CD19 7 mm^3, and CD 16/56 cells 108 mm^3. Patient was diagnosed with T-B-NK+ SCID. ADA level noted to be
Allergy and Immunology | Pediatrics
Adah, Esosa and Raje, Nikita, "ADA Deficiency: Improvement in Immune Function after Enzyme Replacement Therapy" (2023). Posters. 355.