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The two most common genetic syndromes linked to thymus development defects are 22q11.2 deletion syndrome and CHARGE syndrome. Patients with these syndromes exhibit a variety of symptoms because the genes TBX1 and CHD7, associated with these disorders, play a role in the development of the entire midline region. [1]
Abnormalities of the thymus can result in a decreased number of T cells and autoimmune diseases such as autoimmune polyendocrine syndrome type 1 and myasthenia gravis. These are often associated with cancer of the tissue of the thymus, called thymoma, or tissues arising from immature lymphocytes such as T cells, called lymphoma.
Thymic hypoplasia is a condition where the thymus is underdeveloped or involuted. Causes
Relatives of people with myasthenia gravis have a higher percentage of other immune disorders. [41] [42] The thymus gland cells form part of the body's immune system. In those with myasthenia gravis, the thymus gland is large and abnormal.
Ectopic thymus is a condition where thymus tissue is found in an abnormal location . It usually does not cause symptoms, but may leads to a mass in the neck that may compress the trachea and the esophagus. It is thought to be the result of either a failure of descent or a failure of involution of normal thymus tissue.
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]
Myasthenia gravis, or MG, is a chronic autoimmune neuromuscular disorder that causes muscle weakness and fatigue. Myasthenia gravis is one of the rarest and most concerning muscular disorders ...
Thymic hyperplasia can be divided into three groups namely, those without any pre-existing medical condition, those recovering from a pre-existing medical condition such as pneumonia, corticosteroid therapy, radiation therapy, chemotherapy, surgery, and burns, and those with other disorders such as hyperthyroidism, juvenile myasthenia gravis, [5] sarcoidosis, pure red cell aplasia.
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