Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency

@article{Schepp2016DeficiencyOA,
  title={Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency},
  author={Johanna Schepp and Alla Bulashevska and Wilma Mannhardt-Laakmann and Hongzhi Cao and Fang Yang and Maximilian Seidl and Susan Kelly and Michael S. Hershfield and Bodo Grimbacher},
  journal={Journal of Clinical Immunology},
  year={2016},
  volume={36},
  pages={179-186}
}
Determining the monogenic cause of antibody deficiency and immune dysregulation in a non-consanguineous family with healthy parents, two affected children, and one unaffected child. Whole Exome Sequencing (WES) was performed in the index family. WES results were confirmed by Sanger Sequencing. Dried plasma spots of the male patient and his mother were analyzed for ADA2 enzymatic activity. Following data analysis of WES, we found a compound heterozygous mutation in CECR1 (encoding adenosine… CONTINUE READING
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