A Novel Germline Mutation of <i>ADA2</i> Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype

A Novel Germline Mutation of <i>ADA2</i> Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype

Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder prevalently linked to recessive inherited loss of function mutations in the <i>ADA2/CECR1</i> gene. It consists of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset at...

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Bibliographic Details
Main Authors: Silvia Vai, Erika Marin, Roberta Cosso, Francesco Saettini, Sonia Bonanomi, Alessandro Cattoni, Iacopo Chiodini, Luca Persani, Alberto Falchetti
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:International Journal of Molecular Sciences
Subjects:
rare diseases
DADA2 syndrome
<i>ADA2/CECR1</i> gene
bone metabolism
DXA analysis
bone health
Online Access:https://www.mdpi.com/1422-0067/22/15/8331

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https://www.mdpi.com/1422-0067/22/15/8331

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