X-linked severe combined immunodeficiency | |
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Other names | X-SCID |
X-linked recessive is the inheritance pattern of this disorder | |
Specialty | Hematology |
X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells.
In the absence of T cell help, B cells become defective.[1] It is an X-linked recessive inheritance trait, stemming from a mutated (abnormal) version of the IL2RG gene located on the X-chromosome. This gene encodes the interleukin receptor common gamma chain protein, which is a cytokine receptor sub-unit that is part of the receptors for IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21.[2][3]