X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases
| Autor: | Madara Kreile, Linda Gailite, Edvins Miklasevics, Ieva Nokalna, Dace Gardovska, Zanda Daneberga, Zhanna Kovalova, Dagnija Butane |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0303 health sciences
business.industry T cell X-linked lymphoproliferative disease Case Report General Medicine Natural killer T cell medicine.disease Virus Lymphoma 03 medical and health sciences 0302 clinical medicine Immune system medicine.anatomical_structure 030220 oncology & carcinogenesis Immunology Primary immunodeficiency medicine Medicine business CD8 030304 developmental biology |
| Zdroj: | Case Reports in Medicine Case Reports in Medicine, Vol 2020 (2020) |
| ISSN: | 1687-9635 1687-9627 |
| Popis: | X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency. Affected individuals usually present with the Epstein–Barr virus infection and have no apparent disease prior to presentation. The most common clinical manifestations are fulminant infectious mononucleosis, dysgammaglobulinaemia, and lymphoma (usually of B-cell origin). XLP is caused by mutations in the SH2D1A gene which encodes the intracellular adaptor molecule SAP (signalling lymphocyte activation molecule- (SLAM-) associated protein). SAP is predominantly expressed in T cells and NK cells and functions to regulate signal transduction pathways downstream of the SLAM family of surface receptors to control CD4+ T cell (and by extension B-cell), CD8+ T cell and NK cell function, and development of NKT cells. Thus, SAP mutations cause dysregulation of the immune system, with defects in both cellular and humoral immunity. Here we report two clinical cases of three patients who presented with different manifestations of XLP, namely, fulminant infectious mononucleosis, Burkitt lymphoma and hypogammaglobulinaemia. |
| Databáze: | OpenAIRE |
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