Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder prevalently linked to recessive inherited loss of function mutations in the ADA2/CECR1 gene. It consists of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset at infancy/early childhood age. DADA2 syndrome encompasses pleiotropic manifestations such as stroke, systemic vasculitis, hematologic alterations, and immunodeficiency. Although skeletal abnormalities have been reported in patients with this disease, clear information about skeletal health, with appropriate biochemical-clinical characterization/management, its evolution over time and any appropriate clinical management is still insufficient. In this paper, after a general introduction shortly reviewing the pathophysiology of Ada2 enzymatic protein, its potential role in bone health, we describe a case study of two 27 year-old DADA2 monozygotic female twins exhibiting bone mineral density and bone turnover rate abnormalities over the years of their clinical follow-up.

Vai, S., Marin, E., Cosso, R., Saettini, F., Bonanomi, S., Cattoni, A., et al. (2021). A novel germline mutation of ada2 gene in two “discordant” homozygous female twins affected by adenosine deaminase 2 deficiency: Description of the bone-related phenotype. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22(15) [10.3390/ijms22158331].

A novel germline mutation of ada2 gene in two “discordant” homozygous female twins affected by adenosine deaminase 2 deficiency: Description of the bone-related phenotype

Saettini F.;Cattoni A.;
2021

Abstract

Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder prevalently linked to recessive inherited loss of function mutations in the ADA2/CECR1 gene. It consists of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset at infancy/early childhood age. DADA2 syndrome encompasses pleiotropic manifestations such as stroke, systemic vasculitis, hematologic alterations, and immunodeficiency. Although skeletal abnormalities have been reported in patients with this disease, clear information about skeletal health, with appropriate biochemical-clinical characterization/management, its evolution over time and any appropriate clinical management is still insufficient. In this paper, after a general introduction shortly reviewing the pathophysiology of Ada2 enzymatic protein, its potential role in bone health, we describe a case study of two 27 year-old DADA2 monozygotic female twins exhibiting bone mineral density and bone turnover rate abnormalities over the years of their clinical follow-up.
Articolo in rivista - Articolo scientifico
ADA2/CECR1 gene; Bone health; Bone metabolism; DADA2 syndrome; DXA analysis; Neridronate; Rare diseases;
English
3-ago-2021
2021
22
15
8331
open
Vai, S., Marin, E., Cosso, R., Saettini, F., Bonanomi, S., Cattoni, A., et al. (2021). A novel germline mutation of ada2 gene in two “discordant” homozygous female twins affected by adenosine deaminase 2 deficiency: Description of the bone-related phenotype. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22(15) [10.3390/ijms22158331].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/402955
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