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T-Cell Immunodeficiencies: Hyper IgM Syndrome, Wiskott-Aldrich Syndrome and MHC Class II Deficiency – Primary Immunodeficiency

by Peter Delves, PhD
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    Examples of immunodeficiencies affecting T-cells are listed here. So for example, a defective gene for the CD40 ligand, or for CD40 itself, or for AID or for NEMO or for UNG, result in a condition called hyper-IgM syndrome. And you can read through this list for yourself. You can see a number of different gene defects causing a number of different consequences. In hyper-IgM syndrome, there is raised serum IgM and IgD. You’re probably thinking, hang on a minute, I thought we were talking about immunodeficiency? And yet you’re telling me that there is raised serum IgM and IgD, that there’s more. Hyper-IgM it sounds good doesn’t it? You got more IgM than other people. But the problem is, that there is very low or absent IgG, IgA and IgE. Most patients have an X-linked form of the hyper-IgM syndrome, in which there is a defect in the gene encoding CD40 ligand. Less commonly, there is a defect in the gene encoding a molecule called NEMO, which is the NF𝜅B essential modifier, sometimes known as IKKγ. And in some patients there is a defect in the gene encoding CD40, which is an autosomal gene or in the gene encoding the activation-induced cytidine deaminase (AID) or in the gene encoding uracil-DNA glycosylase (UNG). The result is recurrent bacterial infections. There is also a condition called Hyper-lgE Syndrome and in this condition there is immune dysregulation with an increase in the level of lgE antibody as the name suggests Hyper-lgE Syndrome. An increase in the number of eosinophils, B-cells and natural killer cells but a decrease in CD8+ T-cell proliferation and activation. There are autosomal dominant mutations in STAT3 or autosomal recessive mutations in TYK2 or DOCK8. STAT3 and TYK2 are involved in signaling through several different cytokine receptors. DOCK8 deficiency results...

    About the Lecture

    The lecture T-Cell Immunodeficiencies: Hyper IgM Syndrome, Wiskott-Aldrich Syndrome and MHC Class II Deficiency – Primary Immunodeficiency by Peter Delves, PhD is from the course Immunodeficiency and Immune Deficiency Diseases. It contains the following chapters:

    • Examples of Immunodeficiencies Affecting T-Cells
    • Hyper-IgM Syndrome
    • Hyper-IgE Syndrome
    • DiGeorge Syndrome
    • Wiskott-Aldrich Syndrome
    • MHC Class I Deficiency
    • MHC Class II Deficiency

    Included Quiz Questions

    1. TBX1
    2. CD40L
    3. NEMO
    4. UNG
    5. AID
    1. APS-1
    2. Myasthenia gravis
    3. CGD
    4. AIRE
    5. DiGeorge syndrome
    1. From the Pro-T to Pre-T stage
    2. From the common lymphoid progenitor to the Pro-T stage
    3. From the Pre-T to double positive T cell stage
    4. Of CD4⁺ but not CD8⁺ T-cells
    5. Of CD8⁺ but not CD4⁺ cells
    1. DiGeorge Syndrome
    2. Hyper-IgE Syndrome
    3. MHC Class II Decificiency
    4. Wiskott-Aldrich Syndrome
    5. Hyper-IgM Syndrome
    1. Selection of CD4+ T cells
    2. Phagocyte chemotaxis
    3. T cell motlity
    4. Dendritic cell trafficking
    5. T cell cytoskeleton polarization towards B cells

    Author of lecture T-Cell Immunodeficiencies: Hyper IgM Syndrome, Wiskott-Aldrich Syndrome and MHC Class II Deficiency – Primary Immunodeficiency

     Peter Delves, PhD

    Peter Delves, PhD


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