immunodeficiency 113 with autoimmunity and autoinflammation
MONDO:0957920Mondo
Findings
No curated finding names immunodeficiency 113 with autoimmunity and 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
32 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.
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 2 of 2 reported patients
- HematocheziaHPOHP:0002573
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- ImmunodeficiencyHPOHP:0002721
- 2 of 2 reported patients
- Increased circulating IgA concentrationHPOHP:0003261
- 2 of 2 reported patients
- Increased total leukocyte countHPOHP:0001974
- 2 of 2 reported patients
- Increased total monocyte countHPOHP:0012311
- 2 of 2 reported patients
- Increased total neutrophil countHPOHP:0011897
- 2 of 2 reported patients
- Poor wound healingHPOHP:0001058
- 2 of 2 reported patients
- Pulmonary pneumatoceleHPOHP:0025419
- 2 of 2 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 2 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 2 of 2 reported patients
Show the remaining 20
- ScoliosisHPOHP:0002650
- 2 of 2 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 2 reported patients
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 2 reported patients
- Autoimmune thrombocytopeniaHPOHP:0001973
- 1 of 2 reported patients
- Celiac diseaseHPOHP:0002608
- 1 of 2 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 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.
- ARPC5HGNC:708
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of