Author/Authors :
Gedde-Dahl, Tobias Department of Hematology - Oslo University Hospital - Oslo, Norway , Fevang, Børre K.G. Jebsen Center for Cancer Immunotherapy and K.G. Jebsen Inflammation Research Centre - Institute of Clinical Medicine - University of Oslo - Oslo, Norway , Aukrust, Pal K.G. Jebsen Center for Cancer Immunotherapy and K.G. Jebsen Inflammation Research Centre - Institute of Clinical Medicine - University of Oslo - Oslo, Norway , Fagerli, Unn Merete Department of Oncology - St. Olav’s Hospital - Trondheim, Norway , Sorte, Hanne Department of Medical Genetics - Oslo University Hospital - Oslo, Norway , Stray-Pedersen, Asbjørg Department of Medical Genetics - Oslo University Hospital - Oslo, Norway , Aarset, Harald Department of Pathology - St. Olav’s Hospital - Trondheim, Norway , Hov, Håkon Department of Pathology - St. Olav’s Hospital - Trondheim, Norway , Langmyr, Marit Department of Radiology - St. Olav’s Hospital - Trondheim, Norway , Keil, Thomas Morten Department of Nuclear Medicine - St. Olav’s Hospital - Trondheim, Norway , Bjørge, Ellen Department of Dermatology - St. Olav’s Hospital - Oslo, Norway
Abstract :
The nuclease Artemis is essential for the development of T-cell and B-cell receptors and repair of DNA double-strand breaks, and aloss 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 theArtemisgenecanleadtoafunctional,butreduced,T-cellandB-cellrepertoirewitha more indolent clinical course called “leaky” SCID. Here, we present the case of a young man who had increasingly aggressivelymphoproliferative skin lesions from 2 years of age which developed into multiple EBV+ B-cell lymphomas, where a hypomorphicmutation in theArtemisgene was found in a diagnostic race against time using whole exome sequencing. The patient was givena haploidentical stem cell transplant while in remission for his lymphomas and although the initial course was successful, hesuccumbed to a seriousPneumocystis jiroveciipneumonia 5 months after the transplant. The case underscores the importanceof next-generation sequencing in the diagnosis of patients with suspected severe immunodeficiency
Keywords :
Runaway Train , Leaky Radiosensitive SCID , Skin Lesions , Multiple Lymphomas , T-B-SCID
