Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas.
Børre FevangUnn Merete FagerliHanne SorteHarald AarsetHåkon HovMarit LangmyrThomas Morten KeilEllen BjørgePål AukrustAsbjørg Stray-PedersenTobias Gedde-DahlPublished in: Case reports in immunology (2018)
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.
Keyphrases
- copy number
- stem cells
- epstein barr virus
- circulating tumor
- genome wide
- soft tissue
- early onset
- poor prognosis
- wound healing
- genome wide identification
- stem cell transplantation
- diffuse large b cell lymphoma
- drug induced
- single molecule
- cell free
- disease activity
- dna binding
- systemic lupus erythematosus
- dna methylation
- intensive care unit
- transcription factor
- hodgkin lymphoma
- acute respiratory distress syndrome
- respiratory failure
- circulating tumor cells
- nucleic acid