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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.
The result is a syndrome described as IPEX-like [1] or a SCID. [2] In one patient, deficiency of CD25 on CD4+ lymphocytes caused significantly impaired sensitivity to IL-2. This was demonstrated by a lack of measurable response in anti-inflammatory interleukin-10 (IL-10) secretion to low-dose IL-2 incubation.
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.
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 ]
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 .
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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]
Thymoma with immunodeficiency (also known as "Good syndrome") is a rare disorder that occurs in adults in whom hypogammaglobulinemia, deficient cell-mediated immunity, and thymoma (usually benign) may develop almost simultaneously. [1]: 82 [2] Most reported cases are in Europe, though it occurs globally. [3]