T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

MONDO:0015701

A 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, 1 tagged with T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency itself.

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↑ Disorder of development or morphogenesis (5188) ↑ T-B+ severe combined immunodeficiency (10)

Including sub-types (3) Tagged with T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth