Traits

Traits linked to IRF2BP2

interferon regulatory factor 2 binding protein 2

The Human Phenotype Ontology links 46 traits to IRF2BP2, 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
Bleeding gums	Often (30–79%)
Bleeding tendency	Often (30–79%)
Blood spots	Often (30–79%)
Bloody nose	Often (30–79%)
Bone marrow hypercellularity	Often (30–79%)
Bruising susceptibility	Often (30–79%)
Decreased blood leukocyte number	Often (30–79%)
Decreased class-switched memory B cell proportion	Often (30–79%)
Disseminated intravascular coagulation	Often (30–79%)
Ecchymosis	Often (30–79%)
Low blood cell count	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Low platelet count	Often (30–79%)
Petechiae	Often (30–79%)
Diffuse alveolar hemorrhage	Sometimes (5–29%)
Elevated white blood count	Sometimes (5–29%)
Hypofibrinogenemia	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Oral cavity bleeding	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgA concentration	Always
Decreased circulating IgG concentration	Always
Decreased circulating IgM concentration	Always
Defective B cell differentiation	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Combined immunodeficiency	Always
Decreased specific antibody response to vaccination	Always
Chronic infection	Often (30–79%)
Psoriasiform dermatitis	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Recurrent sinus disease	Always
Gum enlargement	Sometimes (5–29%)
Inflammation of the mouth	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Often (30–79%)
Chronic diarrhea	Often (30–79%)
Abdominal pain	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle weakness	Often (30–79%)
Bone pain	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Wet cough	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Death of body tissue due to lack of blood flow or infection	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Fever	Often (30–79%)
Blood in urine	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal uterus bleeding	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Addictive alcohol use	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	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 IRF2BP2 and how often each is seen. Find out more at hpo.jax.org.

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