Autosomal recessive

To define a genetic syndrome of combined immunodeficiency, severe autoimmunity, and developmental delay, 4 patients from two families who had similar syndromic features were studied. To identify disease-causing mutations, we performed whole exome sequencing for one patient and her healthy parent from Family 1 and also for one patient from Family 2. Disease segregated with novel autosomal recessive mutations in a single gene, tripeptidyl-peptidase II (TPP2) gene. The result defines a new human metabolic immunodeficiency.

• Type: Case-Control
• Archiver: The database of Genotypes and Phenotypes (dbGaP)