1. Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas.
- Author
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Fevang, Børre, Fagerli, Unn Merete, Sorte, Hanne, Aarset, Harald, Hov, Håkon, Langmyr, Marit, Keil, Thomas Morten, Bjørge, Ellen, Aukrust, Pål, Stray-Pedersen, Asbjørg, and Gedde-Dahl, Tobias
- Subjects
IMMUNODEFICIENCY ,LYMPHOMAS ,B cells ,T cells ,STEM cell transplantation ,PNEUMOCYSTIS jiroveci - Abstract
The nuclease Artemis is essential for the development of T-cell and B-cell receptors and repair of DNA double-strand breaks, and a loss of expression or function will lead to a radiosensitive severe combined immunodeficiency with no functional T-cells or B-cells (T-B-SCID). Hypomorphic mutations in the
Artemis gene can lead to a functional, but reduced, T-cell and B-cell repertoire with a more indolent clinical course called “leaky” SCID. Here, we present the case of a young man who had increasingly aggressive lymphoproliferative skin lesions from 2 years of age which developed into multiple EBV+ B-cell lymphomas, where a hypomorphic mutation in theArtemis gene was found in a diagnostic race against time using whole exome sequencing. The patient was given a haploidentical stem cell transplant while in remission for his lymphomas and although the initial course was successful, he succumbed to a seriousPneumocystis jirovecii pneumonia 5 months after the transplant. The case underscores the importance of next-generation sequencing in the diagnosis of patients with suspected severe immunodeficiency. [ABSTRACT FROM AUTHOR]- Published
- 2018
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