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EnglishA severe course of infectious mononucleosis should always lead up to the suspicion of a primary immunodeficiency. We describe the case of a boy with severe mononucleosis accompanied by the development of hemophagocytic lymphohistiocytosis and lymphoma. By whole exome sequencing, we identified a mutation of uncertain significance in CTPS2, a gene closely related to CTPS1, which is involved in a primary immune deficiency with susceptibility to herpesviruses. We discuss the challenge of a correct interpretation of data from whole exome sequencing, questioning whether the CTPS2 variant found in our patient is just an incidental finding or a mutation with variable penetrance.
| Titolo: | The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma | |
| Autori: | ||
| Data di pubblicazione: | 2018 | |
| Stato di pubblicazione: | Pubblicato | |
| Rivista: | ||
| Abstract: | A severe course of infectious mononucleosis should always lead up to the suspicion of a primary immunodeficiency. We describe the case of a boy with severe mononucleosis accompanied by the development of hemophagocytic lymphohistiocytosis and lymphoma. By whole exome sequencing, we identified a mutation of uncertain significance in CTPS2, a gene closely related to CTPS1, which is involved in a primary immune deficiency with susceptibility to herpesviruses. We discuss the challenge of a correct interpretation of data from whole exome sequencing, questioning whether the CTPS2 variant found in our patient is just an incidental finding or a mutation with variable penetrance. | |
| Handle: | http://hdl.handle.net/11368/2964573 | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1097/MPH.0000000000001004 | |
| URL: | https://journals.lww.com/jpho-online/Fulltext/2018/07000/The_Challenge_of_Next_Generation_Sequencing_in_a.32.aspx | |
| Appare nelle tipologie: | 1.1 Articolo in Rivista |
File in questo prodotto:
| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| The_Challenge_of_Next_Generation_Sequencing_in_a.32.pdf | Documento in Versione Editoriale | Copyright Editore | Administrator Richiedi una copia | |
| 11368_2964573_print.pdf | Bozza finale post-referaggio (post-print) | Digital Rights Management non definito | Open Access Visualizza/Apri |
