immunodeficiency 115 with autoinflammation
MONDO:0957981Mondo
Findings
No curated finding names immunodeficiency 115 with autoinflammation 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
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
30 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 antigen-specific T cell proliferationHPOHP:0031402
- 2 of 2 reported patients
- Decreased memory T cell proportionHPOHP:0032183
- 2 of 2 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- Elevated circulating haptoglobin concentrationHPOHP:0020180
- 1 of 1 reported patient
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 1 reported patient
- Fatty replacement of skeletal muscleHPOHP:0012548
- 1 of 1 reported patient
- HypoalbuminemiaHPOHP:0003073
- 1 of 1 reported patient
- ImmunodeficiencyHPOHP:0002721
- 2 of 2 reported patients
- Intermittent diarrheaHPOHP:0002254
- 1 of 1 reported patient
- Partial absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccineHPOHP:0410305
- 1 of 1 reported patient
- Partial absence of specific antibody response to unconjugated pneumococcus polysaccharideHPOHP:0410301
- 2 of 2 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 1 of 1 reported patient
Show the remaining 18
- Recurrent feverHPOHP:0001954
- 2 of 2 reported patients
- Recurrent viral infectionsHPOHP:0004429
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 2 of 2 reported patients
- Superficial dermal perivascular inflammatory infiltrateHPOHP:0031190
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 2 reported patients
- Candida esophagitisHPOHP:0033351
- 1 of 2 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.
- RNF31HGNC:16031
- Moderate · ClinGen · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of