Everything about X-scid totally explained
X-linked Severe Combined Immunodeficiency (X-SCID) is a profound and severe
immunodeficiency characterized by the complete absence of
NK cells and
T cells in the peripheral blood.
Cause
It is caused by mutations of the
IL2RG gene. This gene codes for the
Cytokine receptor common gamma chain, a receptor for a number of
cytokines involved in maintaining T cell homeostasis and stimulating immune cell development. Without a functional receptor, the cells can't develop normally, and are unable to protect the body.
Prognosis
Patients with this condition suffer severe and recurrent infections that are usually fatal in the first years of life.
Further Information
Get more info on 'X-scid'.
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