A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report

• Päätekijät: Z. Lucane (Tekijä), Z. Davidsone (Tekijä), I. Micule (Tekijä), M. Auzenbaha (Tekijä), N. Kurjane (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2022-12-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Abstract Background Adenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common manifestations include peripheral vasculopathy, early-onset stroke, immunodeficiency, and haematological manifestations. Patients with pathogenic var...