autoinflammatory disease, X-linked
MONDO:0800129Mondo
Findings
No curated finding names autoinflammatory disease, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
- Onset and course
- Infantile 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.
- Cerebral hemorrhageHPOHP:0001342
- 3 of 3 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 3 of 3 reported patients
- Decreased total B cell countHPOHP:0010976
- 4 of 4 reported patients
- HepatosplenomegalyHPOHP:0001433
- 3 of 3 reported patients
- PanniculitisHPOHP:0012490
- 3 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 3 of 4 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 4 reported patients
- Anterior uveitisHPOHP:0012122
- 3 of 7 reported patients
- ChorioretinitisHPOHP:0012424
- 1 of 3 reported patients
- Conical toothHPOHP:0000698
- 1 of 3 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 1 of 3 reported patients
- Optic neuritisHPOHP:0100653
- 1 of 3 reported patients
Show the remaining 3
- OsteomyelitisHPOHP:0002754
- 1 of 3 reported patients
- PanuveitisHPOHP:0012121
- 1 of 3 reported patients
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharideHPOHP:0410300
- 1 of 4 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.
- IKBKGHGNC:5961
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
2 names
Resolves to: autoinflammatory disease, X-linked
- Also called
- autoinflammatory syndrome, X-linkedNEMO deleted exon 5 syndrome