Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene.


Retrotransposon-mediated insertion of a long interspersed nuclear element (LINE)-1 or an Alu element into a human gene is a well-known pathogenic mechanism. We report a novel LINE-1-mediated insertion of a transcript from the TMF1 gene on chromosome 3 into the CYBB gene on the X-chromosome. In a Dutch male patient with chronic granulomatous disease, a 5.8… (More)
DOI: 10.1002/humu.22519


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