Traits

Traits linked to AIRE

autoimmune regulator

The Human Phenotype Ontology links 76 traits to AIRE, 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
Anti-side-chain cleavage enzyme antibody positivity	Always
Autoimmunity	Very often (80–99%)
Recurrent fungal infections	Very often (80–99%)
Recurrent mucocutaneous candidiasis	Very often (80–99%)
Anti-21-hydroxylase antibody positivity	Often (30–79%)
Anti-endomysial antibody positivity	Sometimes (5–29%)
Anti-GAD65 antibody	Sometimes (5–29%)
Anti-reticulin antibody positivity	Sometimes (5–29%)
Anti-thyroglobulin antibody positivity	Sometimes (5–29%)
Anti-thyroid peroxidase antibody positivity	Sometimes (5–29%)
Anti-thyroid-stimulating hormone receptor antibody positivity	Sometimes (5–29%)
Antiparietal cell antibody positivity	Sometimes (5–29%)
Infection in blood stream	Sometimes (5–29%)
Unusual fungal nail infection	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Primary adrenal insufficiency	Always
Decreased parathyroid hormone secretion	Very often (80–99%)
Enlarged adrenal glands	Very often (80–99%)
Increased circulating cortisol level	Very often (80–99%)
Low blood aldosterone level	Very often (80–99%)
Adrenal insufficiency	Often (30–79%)
Decreased activity of gonads	Often (30–79%)
Elevated circulating thyroid-stimulating hormone concentration	Sometimes (5–29%)
Graves disease	Sometimes (5–29%)
Hashimoto thyroiditis	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)
Decreased function of male gonad	Not recorded
Female hypogonadism	Not recorded

Abnormality of the eye

Trait	How often it is seen
Limited peripheral vision	Always
Pigmentary retinopathy	Always
Decreased clarity of vision	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Opacification of the corneal stroma	Often (30–79%)
Corneal ulceration	Sometimes (5–29%)
Iridocyclitis	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Uveitis	Sometimes (5–29%)
Perifoveal ring of hyperautofluorescence	Not recorded

Abnormality of the integument

Trait	How often it is seen
Ectodermal dysplasia	Often (30–79%)
Hair loss	Often (30–79%)
Patchy darkened skin	Often (30–79%)
Poor nail formation	Often (30–79%)
Alopecia universalis	Sometimes (5–29%)
Blotchy loss of skin color	Sometimes (5–29%)
Nail pits	Sometimes (5–29%)
Patchy baldness	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Pancreatic inflammation	Always
Diarrhea	Often (30–79%)
Gallstones	Often (30–79%)
Atrophic gastritis	Sometimes (5–29%)
Celiac disease	Sometimes (5–29%)
Chronic active hepatitis	Sometimes (5–29%)
Liver inflammation	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Chronic oral thrush	Always
Keratoconjunctivitis	Often (30–79%)
Thin dental enamel	Often (30–79%)
Chronic sinus disease	Sometimes (5–29%)
Nasal polyposis	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Early menopause	Often (30–79%)
Increased calcium level in kidney	Sometimes (5–29%)
Kidney inflammation	Sometimes (5–29%)
Primary testicular failure	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating parathyroid hormone level	Always
Abnormal circulating calcium-phosphate regulating hormone concentration	Very often (80–99%)
Type 1 diabetes	Often (30–79%)
Vitamin B12 deficiency	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cerebral blood vessels	Very often (80–99%)
Absent spleen	Often (30–79%)
Underdeveloped spleen	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Tympanosclerosis	Often (30–79%)
Recurrent middle ear infection	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Hypocalcemic tetany	Always
Epilepsy	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Interstitial pneumonitis	Sometimes (5–29%)

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 AIRE and how often each is seen. Find out more at hpo.jax.org.

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