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The thymus (pl.: thymuses or thymi) is a specialized primary lymphoid organ of the immune system.Within the thymus, thymus cell lymphocytes or T cells mature. T cells are critical to the adaptive immune system, where the body adapts to specific foreign invaders.
Nezelof syndrome is an autosomal recessive [6] congenital immunodeficiency condition due to underdevelopment of the thymus.The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase, this results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase.
The remaining cells exit the thymus as mature naive T cells, also known as recent thymic emigrants. [13] This process is an important component of central tolerance and serves to prevent the formation of self-reactive T cells that are capable of inducing autoimmune diseases in the host.
Congenital athymia's clinical symptoms are directly related to the thymus's absence and its incapacity to generate T cells with the necessary immune capabilities. An increased vulnerability to bacterial, viral, and fungal infections results from T-cell immunodeficiency. [1] These patients have an especially high incidence of pneumonias.
The symptoms are very similar to graft-versus-host disease (GVHD). This is because the patients have some T cells with limited levels of recombination with the mutant RAG genes. These T cells are abnormal and have a very specific affinity for self antigens found in the thymus and in the periphery.
The thymus gland in normal patients will gradually decrease in size because the need for the thymus gland diminishes. The decrease in the size of the thymus gland occurs because the body already has a sufficient number of developed T-cells. [13] However, a patient with X-SCID will be born with an abnormally small thymus gland at birth. [9]
In immunology, a naive T cell (T h 0 cell) is a T cell that has differentiated in the thymus, and successfully undergone the positive and negative processes of central selection in the thymus. Among these are the naive forms of helper T cells ( CD4 + ) and cytotoxic T cells ( CD8 + ).
A thymocyte is an immune cell present in the thymus, before it undergoes transformation into a T cell. [1] Thymocytes are produced as stem cells in the bone marrow and reach the thymus via the blood.