The multiple causes of human SCID
Rebecca H. Buckley
Rebecca H. Buckley
Published November 15, 2004
Citation Information: J Clin Invest. 2004;114(10):1409-1411. https://doi.org/10.1172/JCI23571.
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Commentary

The multiple causes of human SCID

Abstract

SCID, a syndrome characterized by the absence of T cells and adaptive immunity, can result from mutations in multiple genes that encode components of the immune system. Three such components are cytokine receptor chains or signaling molecules, five are needed for antigen receptor development, one is adenosine deaminase — a purine salvage pathway enzyme, and the last is a phosphatase, CD45. In this issue of the JCI, a report describes how complete deficiency of the CD3ε chain of the T cell antigen receptor/CD3 complex causes human SCID.

Authors

Rebecca H. Buckley

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Figure 1

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Relative frequencies of the various molecular defects found in 174 conse...
Relative frequencies of the various molecular defects found in 174 consecutive cases of human SCID evaluated at Duke University Medical Center over the past 3 decades. The most common type is X-linked SCID, due to mutations in the gene encoding the common γ chain for multiple cytokine receptors; the second most common cause is adenosine deaminase deficiency (ADA def.), and the third most common cause is IL-7Rα–chain deficiency. In 25 cases the molecular defect remains unknown (those in the groups labeled autosomal recessive and unknown). No cases of CD45 deficiency have been seen at this institution. Def., deficiency.