Deficiency of adenosine deaminase type 2 (DADA2): A description of phenotype and genotype in 15 cases

Medicine & Life Sciences

• Schmid-Fraccaro syndrome 100%
• Severe combined immunodeficiency due to adenosine deaminase deficiency 87%
• Chromosomes 43%
• Genotype 39%
• Phenotype 33%
• Polyarteritis Nodosa 25%
• Systemic Vasculitis 11%
• Whole Exome Sequencing 10%
• Messenger RNA 10%
• Enzyme Assays 10%
• Mutation 10%
• Genetic Testing 9%
• Vasculitis 9%
• Siblings 8%
• Nervous System 7%
• Therapeutics 6%
• Demography 5%
• Pediatrics 5%
• Polymerase Chain Reaction 5%
• Skin 5%
• Enzymes 5%