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Signaling defects in immunodeficiency conditions

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This solution describes the cell interaction and signaling defects in:
b. XLA and
c. XHM

The solution details how these signaling defects relate to the immunosuppression see in these conditions, and the differences between these diseases.

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Solution Summary

This solution describes the defects that lead to severe immunodeficiency in several congenital conditions, namely SCID, XLA and XHM.

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SCID is caused by a defect in the common gamma chain of cytokine receptors. This forms an essential part of the receptor for several key cytokines such as IL-2, IL-7, IL-15 and IL-6, so individuals with this mutation cannot respond to these critical cytokines. As cytokines in this family are essential for the development of a variety of immune cells, these patients lack T cells, B cells and NK cells and consequently are severely immunodeficient.

Patients with ...

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