immunodeficiency 119
MONDO:0970993Mondo
Findings
No curated finding names immunodeficiency 119 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
15 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.
- Angular cheilitisHPOHP:0030318
- 1 of 1 reported patient
- Combined immunodeficiencyHPOHP:0005387
- 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 total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 1 of 1 reported patient
- Genital wartsHPOHP:0032301
- 1 of 1 reported patient
- PneumoniaHPOHP:0002090
- 1 of 1 reported patient
- Recurrent bronchitisHPOHP:0002837
- 1 of 1 reported patient
- Recurrent oral herpesHPOHP:0410028
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Recurrent sinusitisHPOHP:0011108
- 1 of 1 reported patient
Show the remaining 3
- Antineutrophil antibody positivityHPOHP:0003453
- 0 of 1 reported patient
- MyelodysplasiaHPOHP:0002863
- 0 of 1 reported patient
- MyelokathexisHPOHP:0031160
- 0 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.
- ICOSLGHGNC:17087
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of