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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.
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 ]
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.
Other features included nystagmus and autistic-like symptoms. Laboratory studies showed a serum transferrin CDG type II pattern and a combined defect in N- and O-glycosylation. After the use of whole exome sequencing, she was found to have compound heterozygous missense mutations (which were later termed as T156R and E196K) in the SLC35A1 gene ...
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 .
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 ...
Celine Dion took to the stage for the first time since revealing her stiff-person syndrome diagnosis in September 2022. Wearing a white gown, with the rain beating down and the Eiffel Tower in the ...
The depletion of CD4 T cells and the development of chronic inflammation are signature processes in HIV pathogenesis that propel progression to acquired immune deficiency syndrome (AIDS). CD4 T cell depleted to the cell count of less than 200cell/μL in blood during AIDS allows various pathogens to escape T cell recognition, thus allowing ...