Traits

Traits linked to IRF1

interferon regulatory factor 1

The Human Phenotype Ontology links 38 traits to IRF1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased central memory CD8+ T cell proportion	Always
Decreased naive CD8+ T cell proportion	Always
Increased CD8+ TEMRA T cell proportion	Always
Increased effector memory CD8+ T cell proportion	Always
Reduced total natural killer cell count	Always
Decreased blood leukocyte number	Often (30–79%)
Increased transitional B cell proportion	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Low platelet count	Often (30–79%)
Low T cell count	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Nontuberculous mycobacterial pulmonary infection	Always
Pneumonia	Always
Recurrent mycobacterial infections	Always
BCGitis	Often (30–79%)
BCGosis	Often (30–79%)
Disseminated non-tuberculous mycobacterial infection	Often (30–79%)
Pustular rash	Often (30–79%)
Recurrent chest infections	Often (30–79%)
Unusual Histoplasma capsulatum infection	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Inflammation of the lymph nodes	Always
Swollen lymph nodes in center of chest	Always
Axillary lymphadenopathy	Often (30–79%)
Increased spleen size	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Often (30–79%)
Enlarged liver	Often (30–79%)
Intestinal malrotation	Often (30–79%)
Stomach cancer	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Alveolar cell carcinoma	Not recorded
Lung adenocarcinoma	Not recorded
Non-small cell lung carcinoma	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fever	Always
Positive Mycobacterium avium sputum culture	Always
Increased level of L-fucose in urine	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgA concentration	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Sinus disease	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers and toes	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Birthmark	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to IRF1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test