Traits

Traits linked to RAC2

Rac family small GTPase 2

The Human Phenotype Ontology links 43 traits to RAC2, by body system: features seen in people with one of the gene's rare conditions.

RAC2

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormally low T cell receptor excision circle level	Always
Decreased blood lymphocyte number	Always
Decreased neutrophil oxidative burst	Always
Elevated white blood count	Always
Impaired neutrophil chemotaxis	Always
Increased blood neutrophil counts	Always
Low B cell count	Always
Low blood neutrophil count	Always
Low T cell count	Always
Macrocytic anemia	Always
Reduction of neutrophil motility	Always
Abnormal neutrophil physiology	Very often (80–99%)
Decreased blood leukocyte number	Often (30–79%)
Low blood cell count	Often (30–79%)
Low blood monocyte number	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Chronic bronchitis	Always
Recurrent chest infections	Always
Recurrent respiratory infections	Always
Severe varicella zoster infection	Always
Decreased immune function	Very often (80–99%)
Infection in blood stream	Often (30–79%)
Partial absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine	Often (30–79%)
Recurrent pneumonia	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always
Generalized swelling of lymph nodes	Always
Hives	Often (30–79%)
Inflammation of the lymph nodes	Often (30–79%)
Swollen lymph nodes in the neck	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgG concentration	Always
Decreased circulating IgM concentration	Always
Decreased anti-CD3/28-induced T-cell proliferation	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Chronic pulmonary obstruction	Always
Pulmonary scarring	Always
Permanent enlargement of the airways of the lungs	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Delayed umbilical cord separation	Always
Neonatal omphalitis	Always

Abnormality of head or neck

Trait	How often it is seen
Recurrent sinus disease	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Rectal abscess	Always

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Urachal cyst	Always

Abnormality of the integument

Trait	How often it is seen
Poor wound healing	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bacterial infection of skin	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	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 RAC2 and how often each is seen. Find out more at hpo.jax.org.

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