Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings

MeSH terms

• Adenosine Deaminase / chemistry
• Adenosine Deaminase / deficiency*
• Biomarkers
• Child
• DNA Mutational Analysis
• Genetic Association Studies* / methods
• Genetic Predisposition to Disease*
• Heterozygote*
• Humans
• Intercellular Signaling Peptides and Proteins / chemistry
• Intercellular Signaling Peptides and Proteins / deficiency*
• Magnetic Resonance Imaging
• Male
• Mutation*
• Pedigree
• Phenotype*
• Siblings*
• Structure-Activity Relationship
• Tomography, X-Ray Computed