Who Treats Primary Immunodeficiency? Finding Specialists and Doctors

For people with primary immunodeficiency (PI) — also called inborn errors of immunity (IEI) — the immune system doesn’t work properly. The immune system usually protects the body from infections, but with PI, part of this defense may be missing or weaker than usual.

As a result, the body may have a harder time fighting infections, which can lead to ongoing or serious health problems. That’s why it’s important to work with healthcare providers who understand PI and can help guide care.

PI is an umbrella term that describes more than 550 distinct disorders of the immune system. Management depends on your PI type and how severely your immune system is affected. Due to the complex nature of PI, people with a PI condition often have a team of healthcare providers working together to coordinate their care.

Here’s a look at the specialists who may be involved in managing PI and how to find them.

Specialists That Treat Primary Immunodeficiency

Because primary immunodeficiency can affect many parts of the body, managing PI often takes a coordinated effort. Different specialists bring specific training to help monitor symptoms, manage complications, and tailor treatments to your needs.

Primary Care Doctors

Whether you’re an adult with PI or the caregiver of a child with PI, the first step is usually to visit your primary care doctor or pediatrician.

While managing your overall health, your provider will ask about symptoms and look for patterns that may suggest PI. This evaluation may include:

• A physical exam
• Questions about your medical history or family history of immune system disorders
• Blood tests

If your primary care doctor notices signs that could point to PI, they’ll likely refer you to a specialist called an immunologist.

Clinical Immunologists

An immunologist is a doctor who specializes in diagnosing and treating disorders of the immune system. They are trained to evaluate how your immune system works using specialized testing. They can also help diagnose your specific type of PI. Your immunologist will likely prescribe and coordinate most of your treatments.

Your PI treatment might include:

• Medications to prevent and treat infections, such as antibiotics or antivirals
• Immunoglobulin infusions or injections (donated immune system antibodies used to help replace antibodies your body may be missing)
• Gene therapy (available only for some rare PI types, often through clinical trials or specialized treatment centers)
• Stem cell transplantation
• Steps to help prevent infections, such as staying up to date on recommended vaccines, practicing good hand hygiene, and avoiding known infection triggers when advised by your care team

Other Specialists That May Be Part of Your Care Team

Primary immunodeficiency disorders can lead to different types of complications. Your care will probably be managed by a team of specialists led by your immunologist. The types of specialists you see will depend on the type of PI you have and how it affects your body.

Depending on when your symptoms begin, you may be referred to specialists by your primary care doctor or your immunologist. Your care team will work together to coordinate your care.

Infectious Disease Specialists

Since frequent infections are common in people with PI, you may be referred to a doctor who specializes in infectious diseases. This specialist can help identify the specific germ, such as a bacterium, virus, or fungus, that’s causing your infection and suggest ways to treat it.

Identifying the cause of your infection is especially important if the infection is unusual, severe, or hard to treat. Knowing the cause can help your care team choose treatment that targets the infection more precisely.

Pulmonologists

For PI symptoms that affect your lungs, you may need to see a pulmonologist (lung specialist). You may be referred to a lung specialist if you have frequent respiratory infections or other PI-related lung conditions, such as bronchiectasis (widening and scarring of the airways) or interstitial lung disease (a group of conditions that cause lung inflammation or scarring).

Gastroenterologists

For issues involving digestion, you may be referred to a gastroenterologist. These specialists are trained to diagnose and treat conditions affecting different parts of the digestive system. You may need to see a gastroenterologist for infections or autoimmune inflammation in the digestive system, or other digestive conditions related to PI.

Hematologists and Oncologists

PI that affects a type of white blood cells called lymphocytes can lead to certain blood disorders. For these kinds of complications, you may be referred to a hematologist (a doctor who manages diseases of the blood, bone marrow, and lymphatic system).

Some people with PI may develop certain blood cancers or immune system cancers, such as lymphoma or leukemia. For cancer treatment, you’ll be referred to an oncologist (cancer specialist).

Endocrinologists

In children, certain types of PI may affect the endocrine system — the system that manages the body’s hormones.

In this case, your child’s pediatrician may refer them to an endocrinologist (a doctor who specializes in hormone-related disorders). The endocrine disorders most commonly associated with PI are type 1 diabetes and thyroiditis (inflammation of the thyroid gland).

Dermatologists

Some types of PI may lead to skin conditions, including eczema, rashes, skin infections, or other inflammatory skin problems. For symptoms affecting the skin, you’ll likely be treated by a dermatologist. A dermatologist can help diagnose skin symptoms and recommend treatments that fit your PI care plan.

Allergists

An allergy occurs when the immune system reacts to something that’s usually harmless, such as certain types of food, medication, pollen, or pet dander.

Since PI affects how the immune system functions, people living with PI may develop allergies to foods, medications, or other substances. Allergists specialize in treating allergies, asthma, and other disorders involving the immune system.

ENT Doctors and Audiologists

For certain infections, you may be referred to an ear, nose, and throat (ENT) doctor. Frequent sinus infections, for example, may require management by an ENT.

If you experience hearing loss related to repeated ear infections or other PI complications, you may need to see an audiologist (a specialist who evaluates and helps manage hearing problems).

Dentists and Other Oral-Health Specialists

People living with PI should see their dentist regularly — typically at least twice per year or as recommended by their dentist or care team — to help prevent cavities and tooth loss.

If you develop other dental complications of PI, such as gum disease, you may be referred to a periodontist (a dentist who specializes in gum disease).

Ophthalmologists

PI can lead to inflammatory eye conditions, which should be treated by a specialist. To prevent and treat eye symptoms, you may need to see an ophthalmologist (doctor who treats the eyes and manages vision).

Genetic Counselors

You may be referred to a genetic counselor to discuss your PI diagnosis. Parents and caregivers of children with suspected PI may be offered genetic sequencing (testing that looks for changes in genes). This can help confirm the gene variants that may be causing your child’s PI.

After testing, you’ll likely meet with the counselor to discuss the test results and what they mean.

Psychologists and Psychiatrists

Ongoing illness can take a toll on your mental health. To support mental and emotional well-being, you may see a psychologist or psychiatrist.

A psychologist can provide counseling, coping strategies, and support for behavior or emotional concerns. A psychiatrist is a medical doctor who can diagnose mental health conditions and prescribe medication if needed.

Mental health providers are an important part of care with certain types of PI that are linked to a high risk of mental health disorders. They also help anyone coping with the stress of living with a chronic condition.

In addition, these providers can screen for developmental delays in children and connect you, or your child, with support groups for people with chronic illnesses.

How To Find a Specialist

Trying to find an immunologist may seem daunting, but there are several ways you can go about finding an experienced specialist to treat your PI.

Ask for a Referral

A great place to start is by asking your primary care provider for a referral. Your doctor may know an immunologist in your area that they can recommend. You can also ask family and friends if they know of anyone.

Asking your primary care doctor for a referral may also be necessary. For example, some immunology providers may only allow you to schedule an appointment if they’ve received a referral from your doctor.

In some cases, insurance providers want to see a referral from your primary care doctor before covering specialist fees.

Contact Major Medical Centers

If you live near a major medical center, use it as a resource. Because these centers deal with high volumes of cases, doctors at major hospitals are often sought out for their expertise.

Research your local medical center to see who’s on staff in the allergy and immunology department. You’ll likely be able to find a list of specialists on the hospital’s website. Some department websites may provide details on each doctor, such as where they earned their medical degree and if they have a subspecialty.

Major medical centers may also offer newer treatments and access to clinical trials.

Use Professional Directories

Another way to find a specialist is to search in a directory. Several organizations, such as the Immune Deficiency Foundation (IDF), offer tools to help you in your search for a doctor.

The IDF’s Clinician Finder lets you find providers near you that specialize in PI. With the IDF search tool, you can easily find the type of specialist you need. You can browse through immunologists, allergists, ENTs, and other specialists who treat symptoms related to PI.

It’s important to note that not all provider details may be verified. Make sure to research any doctor you find, including whether their office will accept your insurance.

You can also use the American Academy of Allergy, Asthma & Immunology (AAAAI) database. The AAAAI’s search tool can help you find an allergist or immunologist near you. This database also notes when providers are fluent in Spanish.

Join the Conversation

On myPIteam, people come together to learn more about life with primary immunodeficiency disorders.

Which specialists do you have on your PI treatment team? Share your experience in the comments below.