Title |
Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency
|
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Published in |
Journal of Clinical Immunology, February 2016
|
DOI | 10.1007/s10875-016-0245-x |
Pubmed ID | |
Authors |
Johanna Schepp, Alla Bulashevska, Wilma Mannhardt-Laakmann, Hongzhi Cao, Fang Yang, Maximilian Seidl, Susan Kelly, Michael Hershfield, Bodo Grimbacher |
Abstract |
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 deaminase 2, ADA2) that segregated in the two affected children. Enzyme activity measurement confirmed a severely diminished ADA2 activity in our patient. The 32 year old index patient was suffering from recurrent respiratory infections and was previously diagnosed with common variable immunodeficiency (CVID), showing no signs of vasculitis. His sister had a systemic lupus erythematosus (SLE)-like phenotype and died at age 17. Deficiency of ADA2 (DADA2) has been reported to cause vasculopathy and early-onset stroke. Our case suggests that it should also be considered when evaluating patients with antibody deficiencies and immune dysregulation syndromes. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Finland | 1 | 50% |
United States | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Spain | 1 | 1% |
Canada | 1 | 1% |
Unknown | 81 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 16 | 19% |
Student > Ph. D. Student | 9 | 11% |
Student > Master | 8 | 10% |
Student > Doctoral Student | 6 | 7% |
Lecturer | 5 | 6% |
Other | 15 | 18% |
Unknown | 24 | 29% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 27 | 33% |
Biochemistry, Genetics and Molecular Biology | 9 | 11% |
Immunology and Microbiology | 9 | 11% |
Agricultural and Biological Sciences | 4 | 5% |
Business, Management and Accounting | 1 | 1% |
Other | 1 | 1% |
Unknown | 32 | 39% |