The Growing Spectrum of DADA2 Manifestations—Diagnostic and Therapeutic Challenges Revisited

The Growing Spectrum of DADA2 Manifestations—Diagnostic and Therapeutic Challenges Revisited

Deficiency of Adenosine Deaminase Type 2 (DADA2) is a rare autosomal recessive inherited disorder with a variable phenotype including generalized or cerebral vasculitis and bone marrow failure. It is caused by variations in the adenosine deaminase 2 gene (ADA2), which leads to decreased adenosine de...

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Bibliographic Details
Main Authors: Carolin Escherich, Benedikt Bötticher, Stefani Harmsen, Marc Hömberg, Jörg Schaper, Myriam Ricarda Lorenz, Klaus Schwarz, Arndt Borkhardt, Prasad Thomas Oommen
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Pediatrics
Subjects:
deficiency of adenosine deaminase type 2
ADA2 enzyme activity
siblings at risk
phenotype-genotype diversity
diagnostic algorithm
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.885893/full

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