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Severe Combined Immunodeficiency (SCID) – Primary Immunodeficiency

by Peter Delves, PhD
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    The worst type of primary immunodeficiency is SCID (severe combined immunodeficiency). The title tells it all, doesn’t it really? It’s severe and it’s combined because it affects not only T-cells but also B-cells. It’s due to mutations in one of a number of different genes involved in controlling cytokine signaling, or T-cell receptor signaling, or VDJ recombination of the immunoglobulin and T-cell receptor genes, or in metabolism. There is a complete and total failure of T-cell development. It affects approximately one child in every 80,000 live births. There are severe defects in both cellular and humoral immunity. The result is severe and recurrent viral, bacterial and fungal opportunistic infections. And unfortunately without treatment, this condition is fatal within the first year of life. Although there are a number of treatments that are available. And the key thing about SCID is that there is a complete absence of T-cells. There are a number of different genes that can cause SCID, and the particular genes that are involved will determine exactly which cell types are absent in the immune response. But the common theme is there is always a absence of T-cells. So if there’s a gene defect in the γC component of the interleukin receptors or in JAK3, the result is that there are no T-cells. There are B-cells present, but there are no NK cells. So this is referred to as T negative, B positive, NK negative SCID. In contrast, if there is mutation in those other genes that you can see listed there, RAG1, RAG2 and so forth, then the result is T negative, B negative, NK positive SCID. In other words, those children will totally lack T-cells and B-cells, but they do have NK cells. The third group of genes that you can see there, the interleukin-7 receptor...

    About the Lecture

    The lecture Severe Combined Immunodeficiency (SCID) – Primary Immunodeficiency by Peter Delves, PhD is from the course Immunodeficiency and Immune Deficiency Diseases.


    Author of lecture Severe Combined Immunodeficiency (SCID) – Primary Immunodeficiency

     Peter Delves, PhD

    Peter Delves, PhD


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