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Ectopic thymus. Ectopic thymus is a condition where thymus tissue is found in an abnormal location (ectopia). 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.
Cervical thymic cyst. A cervical thymic cyst, also called thymopharyngeal duct cyst, is a fluid-filled mass that occurs when the thymopharyngeal duct, an embryonic structure connecting the nascent thymus with the embryonic pharynx, fails to close and disappear. [1] A thymic cyst is typically a solitary mass on one side of the neck, and is ...
Human thymus, posterior view. Specialty. Immunology, Medical genetics. Congenital athymia is an extremely rare disorder marked by the absence of the thymus at birth. [ 1 ] T cell maturation and selection depend on the thymus, and newborns born without a thymus experience severe immunodeficiency. [ 2 ]
Myasthenia gravis (MG) is a long-term neuromuscular junction disease that leads to varying degrees of skeletal muscle weakness. [1] The most commonly affected muscles are those of the eyes, face, and swallowing. [1][5] It can result in double vision, drooping eyelids, and difficulties in talking and walking. [1]
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
The thymus is an organ that sits behind the sternum in the upper front part of the chest, stretching upwards towards the neck. In children, the thymus is pinkish-gray, soft, and lobulated on its surfaces. [ 1 ] At birth, it is about 4–6 cm long, 2.5–5 cm wide, and about 1 cm thick. [ 2 ]
Specialty. Hematology. X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells. In the absence of T cell help, B cells become defective. [1] It is an X-linked recessive inheritance trait, stemming from a mutated (abnormal) version of the IL2RG gene located on ...
hormone therapy, antifungals, immunosuppression. Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome). It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherited in autosomal recessive fashion due to a defect ...