Combined immunodeficiency-multiple intestinal atresia

What it is

From: Orphanet

A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.

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.

Ectopic calcification · Very frequent (99-80%)

Deposition of calcium salts in a tissue or location in which calcification does not normally occur.

Intestinal atresia · Very frequent (99-80%)

An abnormal closure, or atresia of the tubular structure of the intestine.

Severe combined immunodeficiency · Very frequent (99-80%)

A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.

Gastrointestinal atresia · Very frequent (99-80%)

Abdominal distention · Frequent (79-30%)

Distention of the abdomen.

Absent eyebrow · Frequent (79-30%)

Absence of the eyebrow.

Bloody diarrhea · Frequent (79-30%)

Passage of many stools containing blood.

Immunodeficiency · Frequent (79-30%)

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

Intrauterine growth retardation · Frequent (79-30%)

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Polyhydramnios · Frequent (79-30%)

The presence of excess amniotic fluid in the uterus during pregnancy.

Sparse hair · Frequent (79-30%)

Reduced density of hairs.

Jejunoileal ulceration · Frequent (79-30%)

Abnormality of the ductus choledochus · Occasional (29-5%)

An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.

Hypoplasia of the thymus · Occasional (29-5%)

Underdevelopment of the thymus.

Other findings in the same source

From: Orphanet

Additional reported features include Intestinal malrotation (Occasional (29-5%)); Peritoneal abscess (Occasional (29-5%)); Rectal abscess (Occasional (29-5%)); Recurrent abscess formation (Occasional (29-5%)); Thickened skin (Occasional (29-5%)); Alopecia of scalp (Occasional (29-5%)); Autoimmune hemolytic anemia (Very rare (<4-1%)); Autoimmunity (Very rare (<4-1%)); Congenital pulmonary airway malformation (Very rare (<4-1%)); Hashimoto thyroiditis (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Reported case(s): 30.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Combined immunodeficiency-multiple intestinal atresia is Clinical Genetics, with a clinical geneticist as the relevant type of clinician. Paediatrician (children) or physician (adults), with clinical geneticist referral.

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 exact genetic or chromosome finding explain the observed features?
• Would a genetic counsellor help the family understand the result?
• Which organ-specific assessments are appropriate for this particular diagnosis?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Combined immunodeficiency-multiple intestinal atresia. 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.