T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Findings
No curated finding names T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015701), read 2026-09-29. CC BY 4.0.
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
- Decreased mitogen-induced T-cell proliferationHPOHP:0031381
- Frequent (30% to 79% of cases)
- Decreased total CD4+ T cell proportionHPOHP:0032218
- Frequent (30% to 79% of cases)
- Decreased total CD8+ T cell proportionHPOHP:0005415
- Frequent (30% to 79% of cases)
- Decreased total lymphocyte countHPOHP:0001888
- Frequent (30% to 79% of cases)
- Decreased total T cell countHPOHP:0005403
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Recurrent viral infectionsHPOHP:0004429
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Occasional (5% to 29% of cases)
- Autoimmune thrombocytopeniaHPOHP:0001973
- Occasional (5% to 29% of cases)
- Chronic diarrheaHPOHP:0002028
- Occasional (5% to 29% of cases)
- Decreased total neutrophil countHPOHP:0001875
- Occasional (5% to 29% of cases)
Show the remaining 16
- ErythrodermaHPOHP:0001019
- Occasional (5% to 29% of cases)
- FeverHPOHP:0001945
- Occasional (5% to 29% of cases)
- HepatosplenomegalyHPOHP:0001433
- Occasional (5% to 29% of cases)
- Increased circulating IgA concentrationHPOHP:0003261
- Occasional (5% to 29% of cases)
- Increased circulating IgE concentrationHPOHP:0003212
- Occasional (5% to 29% of cases)
- Increased circulating IgG concentrationHPOHP:0003237
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IL7RHGNC:6024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- Also called
- IL-7RIL-7Ralpha deficiencyT-B+ SCID due to IL-7Ralpha deficiency