STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

What it is

From: Orphanet

An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal intestine morphology · Very frequent (99-80%)

An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.

Chronic mucocutaneous candidiasis · Very frequent (99-80%)

Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.

Delayed skeletal maturation · Very frequent (99-80%)

A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.

Functional abnormality of the bladder · Very frequent (99-80%)

Dysfunction of the urinary bladder.

Growth delay · Very frequent (99-80%)

A deficiency or slowing down of growth pre- and postnatally.

Recurrent upper respiratory tract infections · Very frequent (99-80%)

An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).

Short stature · Very frequent (99-80%)

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Abnormality of the endocrine system · Frequent (79-30%)

An abnormality of the endocrine system.

Autoimmune hemolytic anemia · Frequent (79-30%)

An autoimmune form of hemolytic anemia.

Bronchiectasis · Frequent (79-30%)

Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.

Carotid artery dilatation · Frequent (79-30%)

A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.

Decreased total B cell count · Frequent (79-30%)

The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.

Delayed puberty · Frequent (79-30%)

Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.

Diarrhea · Frequent (79-30%)

Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.

Other findings in the same source

From: Orphanet

Additional reported features include Dilatation of the cerebral artery (Frequent (79-30%)); Eczematoid dermatitis (Frequent (79-30%)); Enterocolitis (Frequent (79-30%)); Hepatosplenomegaly (Frequent (79-30%)); Immune dysregulation (Frequent (79-30%)); Immunodeficiency (Frequent (79-30%)); Inflammatory abnormality of the skin (Frequent (79-30%)); Lymphopenia (Frequent (79-30%)); Osteopenia (Frequent (79-30%)); Primary hypothyroidism (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy

Inheritance in the source

From: Orphanet

Autosomal dominant

Frequency and the population described

From: Orphanet

Reported case(s): 5.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Europe; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal dominant pattern means that one altered copy of a relevant gene can be sufficient for the condition. Some affected people inherit the change; others have a new change without an affected parent. The precise finding, family history and condition determine what this means for relatives.

Which doctor should you see?

The suggested department for discussing STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is Allergy and Immunology, with a allergist / clinical immunologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Does the history suggest an allergy, an immune problem or another explanation?
• How would any proposed allergy or immune test change care?
• Is an individual emergency plan needed, and who should understand it?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.