immunodeficiency 89 and autoimmunity
MONDO:0030484Mondo
Findings
No curated finding names immunodeficiency 89 and autoimmunity 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
22 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.
- Antinuclear antibody positivityHPOHP:0003493
- 1 of 1 reported patient
- AsthmaHPOHP:0002099
- 2 of 2 reported patients
- Crohn's diseaseHPOHP:0100280
- 2 of 2 reported patients
- Decreased total eosinophil countHPOHP:0031891
- 2 of 2 reported patients
- Hypochromic microcytic anemiaHPOHP:0004840
- 2 of 2 reported patients
- Increased circulating IgG concentrationHPOHP:0003237
- 2 of 2 reported patients
- Anti-thyroglobulin antibody positivityHPOHP:0032069
- 1 of 2 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 2 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 2 reported patients
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 2 reported patients
- Increased circulating IgA concentrationHPOHP:0003261
- 1 of 2 reported patients
- Increased circulating IgE concentrationHPOHP:0003212
- 1 of 2 reported patients
Show the remaining 10
- Pleural thickeningHPOHP:0031944
- 1 of 2 reported patients
- Pulmonary bullaHPOHP:0032446
- 1 of 2 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 2 reported patients
- Reduced circulating interleukin 10 concentrationHPOHP:0034163
- 1 of 2 reported patients
- Reduced circulating interleukin 17A concentrationHPOHP:0034177
- 1 of 2 reported patients
- Reduced circulating interleukin 21 concentrationHPOHP:0034165
- 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.
- CARD10HGNC:16422
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 89 and autoimmunity
- Also called
- IMD89