Abstract
<dm:abstracts xmlns:dm="http://www.elsevier.com/xml/dm/dtd"><ce:abstract xmlns:ce="http://www.elsevier.com/xml/common/dtd" class="teaser" id="abs0010" view="all"><ce:abstract-sec id="abssec0010" view="all"><ce:simple-para id="abspara0010" view="all">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.</ce:simple-para></ce:abstract-sec></ce:abstract></dm:abstracts>
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