JAK3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site

Publication date: Available online 10 December 2016
Source:Journal of Allergy and Clinical Immunology
Author(s): Craig D. Platt, Michel J. Massaad, Brittany Cangemi, Birgitta Schmidt, Hasan Aldhekri, Raif S. Geha

Teaser

Two siblings were found to have JAK3 deficiency due to a synonymous exonic mutation. The mutation does not change the predicted JAK3 amino acid sequence, though it is pathogenic as it creates a new donor splice site that disrupts protein expression.


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