immunodeficiency 98 with autoinflammation, X-linked
MONDO:0024777Mondo
Findings
No curated finding names immunodeficiency 98 with autoinflammation, 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 · Juvenile onset · Early young adult onset
HPO, annotations 2026-09-02
Features
20 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.
- Decreased total neutrophil countHPOHP:0001875
- 6 of 6 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 5 of 6 reported patients
- HepatomegalyHPOHP:0002240
- 5 of 6 reported patients
- SplenomegalyHPOHP:0001744
- 5 of 6 reported patients
- ThrombocytopeniaHPOHP:0001873
- 5 of 6 reported patients
- Autoimmune hemolytic anemiaHPOHP:0001890
- 4 of 6 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- 3 of 6 reported patients
- Absence of circulating granulocytesHPOHP:0012234
- 2 of 6 reported patients
- Antineutrophil antibody positivityHPOHP:0003453
- 2 of 6 reported patients
- Decreased total B cell countHPOHP:0010976
- 2 of 6 reported patients
- LymphadenopathyHPOHP:0002716
- 2 of 6 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 2 of 6 reported patients
Show the remaining 8
- Growth delayHPOHP:0001510
- 1 of 6 reported patients
- HemophagocytosisHPOHP:0012156
- 1 of 6 reported patients
- MyelofibrosisHPOHP:0011974
- 1 of 6 reported patients
- Pneumocystis jirovecii pneumoniaHPOHP:0020102
- 1 of 6 reported patients
- Recurrent aphthous stomatitisHPOHP:0011107
- 1 of 6 reported patients
- Recurrent oral thrushHPOHP:0009098
- 1 of 6 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.
- TLR8HGNC:15632
- Strong · PanelApp Australia · X-linked · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: immunodeficiency 98 with autoinflammation, X-linked
- Also called
- IMD98inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8X-linked immunodeficiency with autoinflammation