immunodeficiency 63 with lymphoproliferation and autoimmunity
MONDO:0032782Mondo
Findings
No curated finding names immunodeficiency 63 with lymphoproliferation and autoimmunity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
8 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.
- DiarrheaHPOHP:0002014
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Increased circulating IgG concentrationHPOHP:0003237
- 2 of 2 reported patients
- Lymphocytic interstitial pneumoniaHPOHP:0006527
- 2 of 2 reported patients
- Persistent CMV viremiaHPOHP:0032247
- 2 of 2 reported patients
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 2 reported patients
- Inverted CD4:CD8 ratioHPOHP:0033222
- 1 of 2 reported patients
- AutoimmunityHPOHP:0002960
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.
- IL2RBHGNC:6009
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2023
Where it sits
- A kind of