Interleukin-2 (IL-2) receptor γ chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding

1994 ◽  
Vol 24 (2) ◽  
pp. 475-479 ◽  
Author(s):  
James P. Disanto ◽  
Stéphanie Certain ◽  
Alain Fischer ◽  
Geneviève De Saint Basile ◽  
Alice Dautry-Varsat
Keyword(s):  
Receptor Binding ◽  
Severe Combined Immunodeficiency ◽  
Interleukin 2 ◽  
Combined Immunodeficiency ◽  
High Affinity ◽  
Immunodeficiency Disease ◽  
Severe Combined Immunodeficiency Disease

scholarly journals Absence of interleukin 2 production in a severe combined immunodeficiency disease syndrome with T cells.

1990 ◽  
Vol 171 (5) ◽  
pp. 1697-1704 ◽  
Author(s):  
J P DiSanto ◽  
C A Keever ◽  
T N Small ◽  
G L Nicols ◽  
R J O'Reilly ◽  
...  
Keyword(s):  
T Cells ◽  
T Cell ◽  
Severe Combined Immunodeficiency ◽  
T Cell Development ◽  
Interleukin 2 ◽  
Combined Immunodeficiency ◽  
Alternative Pathways ◽  
Immunodeficiency Disease ◽  
Severe Combined Immunodeficiency Disease ◽  
Subtle Abnormality

We have characterized a child with a severe combined immunodeficiency disease syndrome with increased numbers, but a normal distribution, of CD3+ T cells. This patient's immunological defect appears to be attributable to a selective deficiency in T cell production of IL-2, which may reflect a subtle abnormality in the IL-2 gene locus or a defect in a regulatory factor necessary for IL-2 transcription. The increased numbers of phenotypically normal T cells in this patient suggest that alternative pathways of T cell development exist in man or that IL-2 production intra- and extrathymically is controlled via distinct regulatory mechanisms.

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