immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
MONDO:0030798Mondo
Findings
No curated finding names immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias 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
- Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Absent specific antibody responseHPOHP:0005424
- 1 of 1 reported patient
- Autoimmune thrombocytopeniaHPOHP:0001973
- 1 of 1 reported patient
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 1 of 1 reported patient
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 1 of 1 reported patient
- Decreased regulatory T cell proportionHPOHP:0020113
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Follicular hyperplasiaHPOHP:0002729
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- LymphadenopathyHPOHP:0002716
- 1 of 1 reported patient
- Recurrent sinopulmonary infectionsHPOHP:0005425
- 1 of 1 reported patient
- VitiligoHPOHP:0001045
- 1 of 1 reported patient
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.
- CTNNBL1HGNC:15879
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- Also called
- IMD99