The nuclease Artemis is essential for the development of T-cell and B-cell receptors and repair of DNA double-strand breaks, and a\nloss of expression or function will lead to a radiosensitive severe combined immunodeficiency with no functional T-cells or B-cells\n(T-B-SCID). Hypomorphic mutations in the Artemis gene can lead to a functional, but reduced, T-cell and B-cell repertoire with\na more indolent clinical course called ââ?¬Å?leakyââ?¬Â SCID. Here, we present the case of a young man who had increasingly aggressive\nlymphoproliferative skin lesions from2years of age which developed intomultiple EBV+ B-cell lymphomas, where a hypomorphic\nmutation in the Artemis gene was found in a diagnostic race against time using whole exome sequencing. The patient was given\na haploidentical stem cell transplant while in remission for his lymphomas and although the initial course was successful, he\nsuccumbed to a serious Pneumocystis jirovecii pneumonia 5 months after the transplant. The case underscores the importance\nof next-generation sequencing in the diagnosis of patients with suspected severe immunodeficiency.
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