From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 32423680.
- Also identified by DOI 10.1016/j.jpeds.2020.03.024.
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Abstract
The genetic investigation of a family presenting with a dominant form of hyper IgM syndrome published in 1963 and 1975 revealed a R190X nonsense mutation in activation-induced cytidine deaminase. This report illustrates the progress made over 6 decades in the characterization of primary immunodeficiencies, from immunochemistry to whole-exome sequencing.
Medical subject headings
- Cytidine Deaminase
- Dysgammaglobulinemia
- Forecasting
- Immunologic Deficiency Syndromes
- Mutation