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Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas.
- Source :
- Case Reports in Immunology; 5/14/2018, p1-6, 6p
- Publication Year :
- 2018
-
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<italic> Artemis</italic> 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 the<italic> Artemis</italic> 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 serious<italic> Pneumocystis jirovecii</italic> 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]
Details
- Language :
- English
- ISSN :
- 20906609
- Database :
- Complementary Index
- Journal :
- Case Reports in Immunology
- Publication Type :
- Academic Journal
- Accession number :
- 129596157
- Full Text :
- https://doi.org/10.1155/2018/2053716