RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency

MeSH terms

• Adenosine Deaminase / deficiency*
• Adenosine Deaminase / genetics*
• Agammaglobulinemia / diagnosis*
• Child
• Female
• High-Throughput Nucleotide Sequencing / methods*
• Humans
• Immunologic Deficiency Syndromes / diagnosis*
• Pathology, Molecular
• Respiratory Tract Infections / diagnosis*
• Sequence Deletion / genetics*
• Severe Combined Immunodeficiency / diagnosis*