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Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas
Joint Authors
Gedde-Dahl, Tobias
Fevang, Børre
Fagerli, Unn Merete
Sorte, Hanne
Hov, Håkon
Langmyr, Marit
Keil, Thomas Morten
Bjørge, Ellen
Aukrust, Pål
Stray-Pedersen, Asbjørg
Aarset, Harald
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-05-14
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Fevang, Børre& Fagerli, Unn Merete& Sorte, Hanne& Aarset, Harald& Hov, Håkon& Langmyr, Marit…[et al.]. 2018. Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas. Case Reports in Immunology،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1144291
Modern Language Association (MLA)
Fevang, Børre…[et al.]. Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas. Case Reports in Immunology No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1144291
American Medical Association (AMA)
Fevang, Børre& Fagerli, Unn Merete& Sorte, Hanne& Aarset, Harald& Hov, Håkon& Langmyr, Marit…[et al.]. Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas. Case Reports in Immunology. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1144291
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1144291