T-B+ severe combined immunodeficiency due to gamma chain deficiency
Findings
No curated finding names T-B+ severe combined immunodeficiency due to gamma chain deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
Definition from the Mondo Disease Ontology (MONDO:0010315), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
40 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.
- Abnormal circulating immunoglobulin concentrationHPOHP:0010701
- Very frequent (80% to 99% of cases)
- Decreased mitogen-induced T-cell proliferationHPOHP:0031381
- Very frequent (80% to 99% of cases)
- Decreased naive T cell proportionHPOHP:0031397
- Very frequent (80% to 99% of cases)
- Decreased total CD4+ T cell proportionHPOHP:0032218
- Very frequent (80% to 99% of cases)
- Decreased total lymphocyte countHPOHP:0001888
- Very frequent (80% to 99% of cases)
- PneumoniaHPOHP:0002090
- Very frequent (80% to 99% of cases)
Show the remaining 28
- Decreased total T cell countHPOHP:0005403
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- Recurrent bacterial infectionsHPOHP:0002718
- Frequent (30% to 79% of cases)
- Recurrent opportunistic infectionsHPOHP:0005390
- Frequent (30% to 79% of cases)
- SepsisHPOHP:0100806
- Frequent (30% to 79% of cases)
- Skin rashHPOHP:0000988
- Frequent (30% to 79% 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.
- IL2RGHGNC:6010
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2021
- Definitive · Myriad Women's Health · X-linked · 2018
- Definitive · Natera · X-linked recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: T-B+ severe combined immunodeficiency due to gamma chain deficiency
- Also called
- SCIDX1severe combined immunodeficiency, X-linked, X-linked recessiveT-B+ SCID due to gamma chain deficiencyT-B+ severe combined immunodeficiency, X-linkedX-linked severe combined immunodeficiencyXSCID