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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.
The encoded protein is a glycoprotein of ~345 kDa [5] specifically synthesized by chondrocytes located at the surface of articular cartilage, and also by some synovial lining cells. The cDNA encodes a protein of 1,404 amino acids (human A isoform) with a somatomedin B homology domain, heparin -binding domains, multiple mucin -like repeats, a ...
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 .
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 ]
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One type of MHC class II deficiency, also called bare lymphocyte syndrome, is due to mutations in the genes that code for transcription factors that regulate the expression of the MHC class II genes. [16] It results in the depletion of CD4 T cells and some immunoglobulin isotypes even though there are normal levels of both CD8 Cells and B cells ...
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 ...