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  2. Congenital disorder of glycosylation - Wikipedia

    en.wikipedia.org/wiki/Congenital_disorder_of...

    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.

  3. CD4 - Wikipedia

    en.wikipedia.org/wiki/CD4

    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.

  4. Idiopathic CD4+ lymphocytopenia - Wikipedia

    en.wikipedia.org/wiki/Idiopathic_CD4...

    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 ]

  5. PMM2 deficiency - Wikipedia

    en.wikipedia.org/wiki/PMM2_deficiency

    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 .

  6. MHC class II - Wikipedia

    en.wikipedia.org/wiki/MHC_Class_II

    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 ...

  7. Bare lymphocyte syndrome type II - Wikipedia

    en.wikipedia.org/wiki/Bare_lymphocyte_syndrome...

    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]

  8. Glycoproteinosis - Wikipedia

    en.wikipedia.org/wiki/Glycoproteinosis

    This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.

  9. Lymphoproliferative disorders - Wikipedia

    en.wikipedia.org/wiki/Lymphoproliferative_disorders

    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).