Article
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.
Arthritis & rheumatology (Hoboken, N.J.) - 1 Aug 2017
Schepp Johanna, Proietti Michele, Frede Natalie, Buchta Mary, Hübscher Katrin, Rojas Restrepo Jessica, Goldacker Sigune, Warnatz Klaus, Pachlopnik Schmid Jana, Duppenthaler Andrea, Lougaris Vassilios, Uriarte Ignacio, Kelly Susan, Hershfield Michael, Grimbacher Bodo
Abstract excerpt
OBJECTIVE: We aimed to test the relevance of deficiency of adenosine deaminase 2 (DADA2) in patients with antibody deficiency and describe the clinical picture of the disease in adulthood. METHODS: We screened for DADA2 in a cohort of 181 patients with antibody deficiency with or without vascular lesions using next-generation sequencing and targeted Sanger sequencing. All mutations were confirmed by determining...
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