Hyper Ige Syndrome

Overview

Hyper IgE syndrome (HIES), also called Job syndrome, is a rare condition that affects the immune system and connective tissue. IgE is a type of antibody, a protein the immune system makes. In HIES, IgE levels in the blood are often much higher than normal. But HIES is more than a high IgE level: the immune system does not fight certain infections well, and parts of the body such as skin, bones, teeth, and blood vessels can be affected.

HIES is very rare. It affects only a small number of people worldwide. It is not spread from person to person.

HIES can affect anyone. It is usually diagnosed in children, but adults can also be diagnosed. Some forms run in families because of inherited gene changes.

Symptoms

Common symptoms

• Repeated skin infections, boils, or abscesses (painful pus-filled lumps)
• Eczema (itchy, dry, inflamed skin)
• Repeated lung infections such as pneumonia (lung infection)
• Cold abscesses, which are pus-filled lumps with little redness or pain
• Frequent sinus and ear infections
• Baby teeth that do not fall out on time, or extra teeth
• A characteristic face shape, such as a broad nose or prominent forehead
• Very flexible joints
• Bone fractures from minor injuries
• Curved spine (scoliosis)
• Allergies and asthma

Symptoms in children

• Frequent ear, sinus, and lung infections
• Severe or ongoing eczema
• Delayed loss of baby teeth or double rows of teeth
• Poor growth or delayed growth in some children
• Repeated skin boils or abscesses
• Bone problems or fractures from small injuries

Symptoms in older adults

• Most people with HIES are diagnosed before adulthood. Adults diagnosed as children may have ongoing skin, dental, lung, and bone problems.
• A small number of adults are diagnosed later after repeated infections or unexplained immune problems.
• New fever, breathing problems, or spreading skin infections need urgent medical review at any age.

Causes

Main causes

• HIES is caused by changes (mutations) in certain genes that help immune cells and connective tissue work properly.
• The most common form is inherited in an autosomal dominant pattern, meaning one copy of a changed gene from one parent is enough to cause the condition.
• Other rarer forms are inherited in an autosomal recessive pattern, meaning a child inherits two copies of a changed gene.
• Sometimes a new gene change happens in a person with no family history of HIES.

Risk factors

• A family history of HIES or a known gene change linked to HIES
• Being born with a genetic change that affects the immune system and connective tissue
• HIES is not caused by poor hygiene, diet, or lifestyle, and it cannot be caught from someone else

When to see a doctor

See a doctor urgently if:

• You or your child has a new fever, especially with a known immune condition
• A skin infection is spreading quickly or is very painful
• Breathing is getting worse, or there is a new cough with chest pain
• There is a dental abscess, severe tooth pain, or facial swelling
• You feel very unwell, dizzy, or dehydrated

Book a routine appointment if:

• Repeated skin, ear, sinus, or lung infections
• Ongoing eczema that is hard to control
• Baby teeth that are not falling out on time
• Repeated bone fractures from minor injuries
• A family history of HIES or a known gene change linked to HIES

Diagnosis

There is no single test for HIES. Doctors use the medical history, repeated infections, physical examination, blood tests, and sometimes genetic testing. A specialist in immunology usually confirms the diagnosis.

Tests that may be done

• Blood tests to check IgE levels and eosinophils (a type of white blood cell)
• Genetic tests for known gene changes linked to HIES
• Immune function tests to see how well parts of the immune system work
• Cultures from skin, sputum, or blood if an infection is suspected
• Chest X-ray or CT scan to check for lung problems
• Dental X-rays and bone scans if needed

What to expect at your appointment

Diagnosis can take time because HIES is rare and can look like other conditions. You may be referred to an immunologist. Bring a list of past infections, medicines, dental history, and family history. Do not stop any medicine without advice from your healthcare team.

Treatment

HIES is managed, not cured. Care is usually led by an immunology specialist with a team that may include skin, lung, dental, and bone specialists. The aim is to prevent and treat infections, protect skin and teeth, and watch for complications.

Self-care at home

• Wash hands often and keep skin clean and moisturized.
• Avoid picking or squeezing skin lumps or boils.
• Keep teeth and gums clean, and see a dentist regularly.
• Report fever or new infections early rather than waiting.
• Check with your specialist before getting any vaccine, especially live vaccines.
• Eat a balanced diet, get enough sleep, and stay as active as your body allows.

Medical treatments

Treatment is tailored by your specialist team. Approaches may include medicines to treat or prevent infections, medicated skin care, allergy management, and in some cases antibody replacement therapy or other immune treatments. Some medicines can affect the immune system, so always check with your care team before starting or stopping anything.

When is surgery considered?

Surgery is not a treatment for HIES itself. It may be needed to drain an abscess, treat dental problems, or manage bone or joint complications. Your care team will decide if surgery is appropriate.

Living with this condition

Living with HIES means paying attention to early signs of infection and keeping regular appointments with your specialist team. Many people manage their symptoms with a clear care plan and learn when to seek help quickly.

Lifestyle tips

• Keep a simple symptom diary to spot patterns and share with your doctor.
• Avoid close contact with people who have active infections when possible.
• Protect your skin from injury and use gentle skin care.
• Keep up with dental check-ups and follow advice for tooth and gum care.
• Ask your team about safe exercise and any activities to avoid if you have bone or joint problems.

Diet and exercise

A balanced diet and regular gentle activity can support general health. If you have bone thinning, fractures, or joint problems, ask your care team which exercises are safe. Avoid contact sports if your bones or joints are fragile.

Mental health and emotional wellbeing

A long-term condition can cause stress, worry, or isolation. It is common to feel overwhelmed at times. Talk with your healthcare team if you feel anxious or low. If you or someone you know is in crisis or having thoughts of self-harm, call your local emergency number or a local crisis line right away.

Prevention

HIES cannot be prevented because it is caused by gene changes. However, serious complications can often be reduced with early treatment of infections, regular specialist care, good skin and dental care, and prompt attention to fever or breathing problems.

Vaccines

Vaccines are important, but people with immune deficiencies should not receive live vaccines unless a specialist says it is safe. Check every vaccine with your immunology team.

Screening programmes

There is no routine screening for the general public. Families with a known gene change can ask about genetic counseling and testing. Regular check-ups help screen for lung, skin, dental, and bone problems.

Complications

If left untreated

• Repeated severe skin infections and abscesses
• Lung infections that can lead to damaged, widened airways
• Bone thinning, fractures, and curved spine
• Dental problems, including delayed tooth loss and extra teeth
• Growth delay in some children
• A higher chance of certain immune-system cancers, so specialist monitoring is important
• Severe allergic reactions in some people

Long-term outlook

HIES is a lifelong condition, but with specialist care many people manage their symptoms and live active lives. The outlook varies from person to person. Milder forms may have fewer problems, while others need closer monitoring. Early treatment of infections and regular check-ups make a real difference.

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