Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and T...
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment
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Publisher
New York: Springer US
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Language
English
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Publisher
New York: Springer US
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Scope and Contents
Contents
Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. DADA2 is caused by biallelic hypomorphic mutations in the
ADA2
gene that encodes the adenosine deaminase 2 (ADA2) protein. Over 60 disease-associated mutations have been identified in all domains of ADA2 affecting the catalytic activity, protein dimer...
Alternative Titles
Full title
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6061100
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6061100
Other Identifiers
ISSN
0271-9142,1573-2592
E-ISSN
1573-2592
DOI
10.1007/s10875-018-0525-8
