Related Experiment Video
Updated: May 23, 2026
12:58
Expression of Exogenous Cytokine in Patient-derived Xenografts via Injection with a Cytokine-transduced Stromal Cell Line
Published on: May 10, 2017
Polyclonal evolution of lymphoproliferative disorders in XLP1
Dan Tomomasa1, Akira Nishimura1, Kenichi Yoshida2
1Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.
Journal of Human Immunity
|May 22, 2026
Summary
X-linked lymphoproliferative syndrome type 1 (XLP1) may arise from polyclonal lymphocyte expansion, with or without Epstein-Barr virus (EBV). This can progress to malignancy through acquired genetic variants, impacting immune deficiency research.
Area of Science:
- Immunology
- Genetics
- Oncology
Background:
- X-linked lymphoproliferative syndrome type 1 (XLP1) is an inherited immune disorder linked to SH2D1A gene variants.
- Epstein-Barr virus (EBV)-associated lymphoproliferative disorders (LPDs) are common complications, but EBV-negative LPDs in XLP1 are poorly understood.
Purpose of the Study:
- To investigate the mechanisms of tumorigenesis in XLP1-associated LPDs.
- To analyze transcriptomic and somatic variant data in tumor samples from XLP1 patients.
Main Methods:
- Transcriptomic profiling of tumor samples from six XLP1 patients.
- Somatic variant analysis to identify genetic alterations.
- Comparative transcriptome analysis with non-immune defect diffuse large B cell lymphoma.
Main Results:
- Identified pathogenic variants in CARD11/GNA13, MECOM, IRF4, P2RY8, KRAS, and CCND3 in different LPDs.
- Distinct gene expression profiles were observed in XLP1-associated LPDs compared to other lymphomas.
- Upregulation of adaptive immune response genes (e.g., IgH, TCR) suggested polyclonal lymphocyte proliferation.
Conclusions:
- XLP1-associated LPDs can originate from polyclonal lymphocyte expansion, irrespective of EBV infection.
- Subsequent acquisition of somatic variants may drive the progression of polyclonal expansions to malignancy.
Related Concept Videos
01:23Cells of the Adaptive Immune Response
The T and B lymphocytes of the adaptive immune system develop from common lymphoid progenitor cells in the bone marrow. These progenitors give rise to precursors that eventually develop into both T and B lymphocytes. As these precursors mature, they gain the ability to detect and respond to foreign antigens in the body, a process known as immunocompetence. Additionally, these precursors acquire self-tolerance, a process that ensures they do not react to self-antigens. This intricate system...
01:16Primary Lymphoid Organs
Primary lymphoid organs are pivotal in the formation, development, and maturation of lymphocytes, the white blood cells that serve as the backbone of our immune system. This crucial function underscores their fundamental role in maintaining our overall health and immunity. The two primary lymphoid organs of prime importance are the red bone marrow and the thymus.
The red bone marrow is a soft, spongy tissue nestled in the interior of long bones such as the humerus and femur. It is the site...
The red bone marrow is a soft, spongy tissue nestled in the interior of long bones such as the humerus and femur. It is the site...