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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 ]
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.
Some children with autoimmune lymphoproliferative disorders are heterozygous for a mutation in the gene that codes for the Fas receptor, which is located on the long arm of chromosome 10 at position 24.1, denoted 10q24.1. [3] This gene is member 6 of the TNF-receptor superfamily (TNFRSF6).
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 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 ...
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.
ITCLD-GT occurs more commonly in males of middle age (median age 48.4, range 15–77 years in one study). [2] Individuals with the disease present with GI tract symptoms which often are serious and/or debilitating [9] and may mimic those occurring in malignant lymphoproliferative, inflammatory, or autoimmune bowel diseases. [4]
Varies by type; recent studies suggest those with only recurrent infections have little or no reduced life expectancy post-diagnosis, while those with disease-related complications have around 50% survival rate 33 years post-diagnosis: Frequency: Less than 1 in 30,000