immunodeficiency 118
MONDO:0958030Mondo
Findings
No curated finding names immunodeficiency 118 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- LymphadenopathyHPOHP:0002716
- 1 of 1 reported patient
- BCGosisHPOHP:0020087
- 4 of 5 reported patients
- Recurrent feverHPOHP:0001954
- 4 of 7 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 7 reported patients
- OsteomyelitisHPOHP:0002754
- 2 of 7 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 7 reported patients
- BCGitisHPOHP:0020086
- 1 of 5 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 0 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 0 of 7 reported patients
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.
- MCTS1HGNC:23357
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2024
Where it sits
- A kind of