T-B+ severe combined immunodeficiency due to JAK3 deficiency
Findings
No curated finding names T-B+ severe combined immunodeficiency due to JAK3 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency 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:0010938), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
35 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 B cell physiologyHPOHP:0005372
- 2 of 2 reported patients
- Absent peripheral lymph nodes in presence of infectionHPOHP:0033581
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 4 reported patients
- 1 of 1 reported patient · Infantile onset
- Frequent (30% to 79% of cases)
- Decreased anti-CD3/28-induced T-cell proliferationHPOHP:0031382
- 4 of 4 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Decreased total T cell countHPOHP:0005403
Show the remaining 23
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 4 of 4 reported patients
- Abnormal T cell physiologyHPOHP:0011840
- Very frequent (80% to 99% of cases)
- Decreased mitogen-induced T-cell proliferationHPOHP:0031381
- Very frequent (80% to 99% of cases)
- Absent natural killer cellsHPOHP:0040219
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Recurrent opportunistic infectionsHPOHP:0005390
- Frequent (30% to 79% of cases)
- Recurrent oral thrushHPOHP:0009098
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.
- JAK3HGNC:6193
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Also called
- SCID, autosomal recessive, T-negative/B-positive typeT-B+ SCID due to JAK3 deficiencyT-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency