A Pitfall of Whole Exome Sequencing: Variants in the 5'UTR Splice Site of BTK Causing XLA

Affiliations

• ¹ Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands.
• ² Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland.
• ³ MRC Center for Medical Mycology, University of Exeter and Great Ormond Street Hospital, London, UK.
• ⁴ Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands. [email protected].