Primary Immunodeficiency – Diagnosis and Treatment
Diagnosis
To find out if a person has a primary immunodeficiency, the healthcare provider starts by asking about past infections, family history, and any signs of repeat or severe illness.
Details like frequent infections, unusual illnesses, or inherited immune disorders in close relatives are important clues. A physical exam helps the doctor check for signs such as skin problems, enlarged organs, or conditions like thrombocytopenia.
The doctor often recommends blood tests, which measure levels of infection-fighting proteins (immunoglobulins) and counts of key cells. Abnormal counts may suggest problems like lymphopenia, neutropenia, or antibody deficiency.
Common blood tests include:
| Test Type | What It Checks |
|---|---|
| Complete Blood Count (CBC) | White blood cell and lymphocyte levels |
| Immunoglobulin Levels | IgA, IgG, IgM amounts in the blood |
| Lymphocyte Subset Analysis | Counts of T-cell and B-cell types |
Doctors may also test for specific disorders, such as Wiskott-Aldrich syndrome, X-linked agammaglobulinemia, or chronic granulomatous disease.
For families with known conditions like severe combined immunodeficiency, doctors might suggest prenatal or genetic testing to look for inborn errors of immunity early—using samples from blood, amniotic fluid, or placental cells.
This helps with early diagnosis and better planning for care right after birth.
Treatment
Infection Control and Prevention
Doctors work to keep infections under control as a key part of managing primary immune disorders. They may give antibiotics quickly when signs of infection appear, and sometimes recommend longer treatment.
If oral antibiotics do not work, patients may need IV antibiotics and hospital care. To help prevent infections, some patients—especially those with many lung or ear infections—might take antibiotics for a long time as prophylactic treatment.
In some cases, children with these conditions cannot receive vaccines that use live viruses, because their immune systems cannot safely handle them.
Immunoglobulin replacement therapy adds helpful antibody proteins that the body is missing.
Doctors can give this treatment into a vein (IV) every few weeks, or under the skin (subcutaneous) one or two times each week. The choice depends on what best fits the patient’s needs and lifestyle.
Comparison Table: Common Approaches to Infection Management
| Method | How Often | Why Used | Notes |
|---|---|---|---|
| Oral Antibiotics | As needed/cycles | Stop or treat common infections | May need long-term use for some people |
| IV Antibiotics | As needed | More serious, ongoing, or hard-to-treat infections | Done in hospital |
| Immunoglobulin Therapy | 1-4 times/month | Replace missing antibodies, prevent infections | IV or subcutaneous routes |
| Preventive Antibiotics | Daily/regular | Prevent new infections in high-risk patients | Lowers risk of complications |
Restoring or Replacing Immune System Function
Some treatments focus on helping the immune system work better or fixing the root problem.
Stem cell transplantation offers a long-term solution for certain forms of immune deficiency. Doctors give healthy stem cells to the patient, and these new cells develop into different types of immune cells, helping the immune system work normally.
Usually, doctors take stem cells from a close relative who matches the patient’s body tissue closely.
Before the transplant, doctors may remove existing immune cells with chemotherapy or radiation, which increases the risk of infections until the new cells start to work.
Gene therapy is another option for some people. Doctors take some of the patient’s own stem cells, change the problem gene in the lab, and then return the corrected cells to the patient’s body through an IV.
Since the person’s own cells are used, no donor is needed. Right now, doctors use gene therapy for only a few types of primary immune disorders, but researchers are studying more types in clinical trials.
Other possible treatments depend on the specific disorder. Some patients may need enzyme replacement or a thymus transplant if their body lacks certain cell types that help fight infection.
Each of these options gives the immune system the tools it needs to stay healthy and fight infections.
Managing Challenges and Finding Help
Living with conditions like chronic diarrhea, anemia, or recurrent infections from encapsulated bacteria can be difficult.
Some people may also face issues like slow growth, autoimmune disease, or even a higher chance of certain cancers. These challenges can affect daily life, work, and school.
Ways to find support:
- Talking to others facing similar health issues.
- Joining local or online support groups.
- Speaking with healthcare teams about available resources.
Getting Ready for Your Visit
Steps You Can Take Beforehand
Preparing for a medical appointment can help things go more smoothly. Try to do the following before the visit:
- List your symptoms. Write down all symptoms, even if they don’t seem connected. Note when each started.
- Organize medical documents. Collect copies of hospital records, lab tests, and any results like X-rays, blood tests, or cultures.
- Check your family’s medical background. Ask relatives if others in your family have been diagnosed with immune problems or if there have been any unexplained illnesses or early deaths.
- List medications and supplements. Make a list of all medicines, vitamins, and supplements being taken. Include the dosages and, if possible, details about antibiotics used over the past few months.
- Prepare questions. Jot down questions you want to ask. It may help to group them by topic, for example, about diagnosis, tests, or treatment options.
A trusted family member or friend can go with you to help remember the information the doctor provides and offer support.
Sample Questions to Ask the Doctor
| Topic | Example Questions |
|---|---|
| Causes | What could be causing these symptoms? |
| Tests | What tests do you suggest? Will I need to prepare? |
| Treatment | What treatment options are there? Which is best? |
| Prognosis | What is the outlook for my condition? |
| Alternatives | Are there other approaches to consider? |
| Activities/limits | Are there activities I should avoid? |
What the Doctor Will Want to Know
The doctor will likely ask detailed questions to better understand the symptoms and health history. Common questions may include:
- When did symptoms start?
- Do the symptoms happen all the time or only sometimes?
- How many infections occurred in the past year?
- How long did infections last?
- Did antibiotics effectively treat the infections?
- How many times did you take antibiotics this year?
