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A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes.
Image of CD4 co-receptor binding to MHC (Major Histocompatibility Complex) non-polymorphic region. In molecular biology, CD4 (cluster of differentiation 4) is a glycoprotein that serves as a co-receptor for the T-cell receptor (TCR). CD4 is found on the surface of immune cells such as helper T cells, monocytes, macrophages, and dendritic cells.
Carbohydrate-deficient Glycoprotein Syndrome (CDGS) Type Ia, Congenital Disorder of Glycosylation (CDG) Type Ia,Phosphomannomutase Deficiency [1],Jaeken Syndrome, PMM2-CDG , CDG1a PMM2 protein PMM2 deficiency or PMM2-CDG , previously CDG-Ia , is a very rare genetic disorder caused by mutations in PMM2 .
2001: Willig et al. describes the first case of SLC35A1-CDG in medical history, a 4 month old male child who suffered from a spontaneous bleeding incident in the posterior chamber of his right eye which occurred alongside cutaneous hemorrhages, further laboratory studies revealed thrombocytopenia and neutropenia.
At birth, there is no sign that a child will develop symptoms of aspartylglucosaminuria. Typically, signs and symptoms become apparent between two and four years of age and become progressively worse as the individual ages. The following signs and symptoms may appear: [3] Individuals are more prone to respiratory infections; Development of ...
Idiopathic CD4+ lymphocytopenia (ICL) is a rare medical syndrome in which the body has too few CD4 + T lymphocytes, which are a kind of white blood cell. [2] ICL is sometimes characterized as "HIV-negative AIDS", though, in fact, its clinical presentation differs somewhat from that seen with HIV/AIDS. [ 3 ]
The disease's origin is a peripheral CD4+ T-lymphocyte, [3] although rarer CD8+/CD4- cases have been observed. [3] Epidermotropism (lymphocytes residing in the epidermis) [6] by neoplastic CD4+ lymphocytes with the formation of Pautrier's microabscesses is the hallmark sign of the disease. Although the condition can affect people of all ages ...
The genetic cause of Bare lymphocyte syndrome type II is due to mutations in any of the following genes: [5]. CIITA is responsible for giving instructions to create a protein that controls transcription of genes (MHC class II), and is located at 16p13.13 (cytogenetic location), [6]