Traits

Traits linked to RAG2

recombination activating 2

The Human Phenotype Ontology links 116 traits to RAG2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	How often it is seen
Complete or near-complete absence of specific antibody response to tetanus vaccine	Always
Congenital exfoliative erythroderma	Always
Decreased circulating isohemagglutinin concentration	Always
Decreased immune function	Always
Eczema	Always
Eosinophilic dermal infiltration	Always
Infection in blood stream	Always
Meningitis	Always
Pimple	Always
Pneumonia	Always
Recurrent bacterial infections	Always
Recurrent skin infections	Always
Recurrent viral infections	Always
Skin rash	Always
Subcutaneous abscess	Always
Red scaly skin caused by inflammatory skin disease	Very often (80–99%)
Severe combined immunodeficiency	Very often (80–99%)
Recurrent enteroviral infections	Often (30–79%)
Recurrent fungal infections	Often (30–79%)
Autoimmunity	Sometimes (5–29%)
Combined immunodeficiency	Not recorded
Recurrent opportunistic infections	Not recorded
Recurrent respiratory infections	Not recorded
Severe T-cell immunodeficiency	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Absent circulating B cells	Always
Absent circulating T cells	Always
Absent natural killer cells	Always
Decreased naive CD4+ T cell proportion	Always
Decreased total CD8+ T cell proportion	Always
Elevated white blood count	Always
High blood eosinophil count	Always
Increased CD4:CD8 ratio	Always
Low B cell count	Always
Low blood neutrophil count	Always
Low number of red blood cells or hemoglobin	Always
Oligoclonal T cell expansion	Always
Abnormal lymphocyte morphology	Very often (80–99%)
Abnormal total B cell count	Very often (80–99%)
Abnormal total T cell number	Very often (80–99%)
Decreased blood lymphocyte number	Often (30–79%)
High lymphocyte count	Often (30–79%)
Low T cell count	Often (30–79%)
Abnormal total natural killer cell count	Sometimes (5–29%)
Autoimmune hemolytic anemia	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Brittle hair	Always
Hair loss	Always
Hyperkeratosis	Always
Parakeratosis	Always
Psoriasiform acanthosis	Always
Scaling skin	Always
Sparse hair	Always
Spongiosis	Always
Dry skin	Often (30–79%)
Itching	Often (30–79%)
Thickened skin	Often (30–79%)
Paleness	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Agammaglobulinemia	Always
Decreased anti-CD3/28-induced T-cell proliferation	Always
Decreased circulating IgA concentration	Always
Decreased circulating IgG concentration	Always
Impaired phytohemagglutinin-induced T lymphocyte transformation	Always
Increased circulating IgE concentration	Always
Decreased circulating antibody level	Very often (80–99%)
Decreased circulating IgM concentration	Very often (80–99%)
Decreased antigen-specific T cell proliferation	Often (30–79%)
Decreased mitogen-induced T-cell proliferation	Often (30–79%)
Panhypogammaglobulinemia	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Absent thymus	Always
Axillary lymphadenopathy	Always
Generalized swelling of lymph nodes	Always
Inguinal lymphadenopathy	Always
Redness of skin or mucous membrane	Always
Swollen lymph nodes in the neck	Always
Swollen lymph nodes	Very often (80–99%)
Enlarged liver and spleen	Often (30–79%)
Increased spleen size	Often (30–79%)
Inflammation of the lymph nodes	Sometimes (5–29%)
Small thymus	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Absence of scalp hair	Always
Absent eyebrow	Always
Absent eyelashes	Always
Chronic oral thrush	Always
Recurrent upper and lower respiratory tract infections	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)
Mastoiditis	Not recorded
Pink eye	Not recorded
Purulent rhinitis	Not recorded

Laboratory abnormality

Trait	How often it is seen
Bacteremia	Always
Elevated circulating C-reactive protein concentration	Always
Episodic fever	Always
Fluid retention	Always
Low albumin	Always
Persistent fever	Always
Fever	Often (30–79%)
High liver enzymes	Sometimes (5–29%)
Decreased protein levels in blood	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Intractable diarrhea	Always
Protracted diarrhea	Always
Chronic diarrhea	Very often (80–99%)
Enlarged liver	Very often (80–99%)
Diarrhea	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Sometimes (5–29%)
Short toe	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Thyroid gland inflammation	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
CSF pleocytosis	Always
Epilepsy	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Faltering weight secondary to recurrent infections	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Desquamation of skin soon after birth	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Middle ear infection	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Lung infiltrates	Always

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 RAG2 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