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GATA2 deficiency is a grouping of several disorders caused by common defect, namely, familial or sporadic inactivating mutations in one of the two parental GATA2 genes.Being the gene haploinsufficient, mutations that cause a reduction in the cellular levels of the gene's product, GATA2, are autosomal dominant.
Depending on the grade of the sarcoma, it is treated with surgery, [8] chemotherapy, and/or radiotherapy.Though surgery is the current standard of care for hemangiopericytomas, metastasis and tumor recurrence occur in more than 30% of patients, in particular recurrence in the pelvis and retroperitoneum [3] and metastasis in bone and lungs. [9]
Benign tumors of bone can be similar macroscopically and require a combination of a clinical history with cytogenetic, molecular, and radiologic tests for diagnosis. [23] Three common forms of benign bone tumors with are giant cell tumor of bone, osteochondroma , and enchondroma ; other forms of benign bone tumors exist but may be less prevalent.
Hemangioblastomas usually occur in adults, yet tumors may appear in VHL syndrome at much younger ages. Men and women are approximately at the same risk. Although they can occur in any section of the central nervous system , they usually occur in either side of the cerebellum , the brain stem or the spinal cord .
Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as APS-II, or PAS II, is the most common form of the polyglandular failure syndromes. [2] PAS II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease , type 1 diabetes , or both. [ 5 ]
Isolated growth hormone deficiency (IGHD) is a rare congenital disorder characterized by growth hormone deficiency and postnatal growth failure. [ 2 ] [ 3 ] It is divided into four subtypes that vary in terms of cause and clinical presentation.
Hyper IgM syndrome is a rare primary immune deficiency disorders characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM. [ 8 ] They are resulting from mutations in the pathway from B-cell activation to isotype class switching.
Cavernous hemangiomas are erroneously called the most common benign tumors of the liver. [14] Usually one malformation exists, but multiple lesions can occur in the left or right lobe of the liver in 40% of patients. [3] Their sizes can range from a few millimeters to 20 centimetres. Those over 5 cm are often referred to as giant hemangiomas. [3]