X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases

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, dysgammaglobul...

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Bibliographic Details
Published in:Case reports in medicine 2020, Vol.2020 (2020), p.1-5
Main Authors: Gailite, Linda, Miklaševičs, Edvīns, Daneberga, Zanda, Kovalova, Zhanna, Butane, Dagnija, Kreile, Madara, Nokalna, Ieva, Gardovska, Dace
Format: Article
Language:English
Subjects:
Anemia
Asymptomatic
Bone marrow
Burkitt's lymphoma
Case Report
Case reports
CD150 antigen
CD4 antigen
CD8 antigen
Cell activation
Cellular signal transduction
Deoxyribonucleic acid
DNA
Epstein-Barr virus
Fever
Genetic aspects
Health aspects
Hospitalization
Humoral immunity
Immune system
Immunodeficiency
Immunoglobulins
Immunoproliferative diseases
Infections
Infectious mononucleosis
Intensive care
Intracellular signalling
Laboratories
Liver
Lymphocytes
Lymphocytes B
Lymphocytes T
Lymphoma
Mononucleosis
Mutation
Natural killer cells
Non-Hodgkin's lymphomas
Patients
Primary immunodeficiencies
SH2D1A protein
Signal transduction
Thrombocytopenia
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Summary: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.
ISSN:1687-9627
1687-9635
DOI:10.1155/2020/7108657