immunodeficiency 95
MONDO:0030692Mondo
Findings
No curated finding names immunodeficiency 95 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
HPO, annotations 2026-09-02
Features
10 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 circulating IgG3 concentrationHPOHP:0032137
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Ground-glass opacificationHPOHP:0025179
- 1 of 1 reported patient
- Increased circulating IgG3 concentrationHPOHP:0032297
- 1 of 1 reported patient
- Recurrent feverHPOHP:0001954
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- Recurrent viral pneumoniaHPOHP:0033214
- 1 of 1 reported patient
- Recurrent viral upper respiratory tract infectionsHPOHP:0033166
- 1 of 1 reported patient
- Respiratory distressHPOHP:0002098
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 1 of 1 reported patient
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.
- IFIH1HGNC:18873
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 95
- Also called
- IMD95