T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
MONDO:0015701A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
Also known as: IL-7R, IL-7Ralpha deficiency, T-B+ SCID due to IL-7Ralpha deficiency, interleukin-7 receptor alpha deficiency
3 clinical trials for this condition and its sub-types.
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Immunodeficiency disease
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Severe combined immunodeficiency
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Combined immunodeficiency
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