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

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

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...

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Bibliographic Details
Main Authors: Z. Lucane, Z. Davidsone, I. Micule, M. Auzenbaha, N. Kurjane
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Pediatric Rheumatology Online Journal
Subjects:
Deficiency of adenosine deaminase 2
Immunodeficiency
Stroke
Vasculitis
Autoinflammatory syndromes
Case report
Online Access:https://doi.org/10.1186/s12969-022-00781-9

Internet

https://doi.org/10.1186/s12969-022-00781-9

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