Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas
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...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2018/2053716 |
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| author | Børre Fevang Unn Merete Fagerli Hanne Sorte Harald Aarset Håkon Hov Marit Langmyr Thomas Morten Keil Ellen Bjørge Pål Aukrust Asbjørg Stray-Pedersen Tobias Gedde-Dahl |
| author_facet | Børre Fevang Unn Merete Fagerli Hanne Sorte Harald Aarset Håkon Hov Marit Langmyr Thomas Morten Keil Ellen Bjørge Pål Aukrust Asbjørg Stray-Pedersen Tobias Gedde-Dahl |
| author_sort | Børre Fevang |
| collection | DOAJ |
| description | 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 the Artemis 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 Pneumocystis 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. |
| format | Article |
| id | doaj-art-19159dfde2d24b13a39681dfb60136af |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-19159dfde2d24b13a39681dfb60136af2025-02-03T07:24:44ZengWileyCase Reports in Immunology2090-66092090-66172018-01-01201810.1155/2018/20537162053716Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple LymphomasBørre Fevang0Unn Merete Fagerli1Hanne Sorte2Harald Aarset3Håkon Hov4Marit Langmyr5Thomas Morten Keil6Ellen Bjørge7Pål Aukrust8Asbjørg Stray-Pedersen9Tobias Gedde-Dahl10K.G. Jebsen Center for Cancer Immunotherapy and K.G. Jebsen Inflammation Research Centre, Institute of Clinical Medicine, University of Oslo, Oslo, NorwayDepartment of Oncology, St. Olav’s Hospital, Trondheim, NorwayDepartment of Medical Genetics, Oslo University Hospital, Oslo, NorwayDepartment of Pathology, St. Olav’s Hospital, Trondheim, NorwayDepartment of Pathology, St. Olav’s Hospital, Trondheim, NorwayDepartment of Radiology, St. Olav’s Hospital, Trondheim, NorwayDepartment of Nuclear Medicine, St. Olav’s Hospital, Trondheim, NorwayDepartment of Dermatology, St. Olav’s Hospital, Oslo, NorwayK.G. Jebsen Center for Cancer Immunotherapy and K.G. Jebsen Inflammation Research Centre, Institute of Clinical Medicine, University of Oslo, Oslo, NorwayDepartment of Medical Genetics, Oslo University Hospital, Oslo, NorwayDepartment of Hematology, Oslo University Hospital, Oslo, NorwayThe 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 the Artemis 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 Pneumocystis 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.http://dx.doi.org/10.1155/2018/2053716 |
| spellingShingle | Børre Fevang Unn Merete Fagerli Hanne Sorte Harald Aarset Håkon Hov Marit Langmyr Thomas Morten Keil Ellen Bjørge Pål Aukrust Asbjørg Stray-Pedersen Tobias Gedde-Dahl Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas Case Reports in Immunology |
| title | Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas |
| title_full | Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas |
| title_fullStr | Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas |
| title_full_unstemmed | Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas |
| title_short | Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas |
| title_sort | runaway train a leaky radiosensitive scid with skin lesions and multiple lymphomas |
| url | http://dx.doi.org/10.1155/2018/2053716 |
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