Primary Immunodeficiency in Children – Symptoms and Causes by Dr. Sagar Bhattad

11 min read

By Dr. Sagar Bhattad, MBBS, MD Pediatrics
DM - Pediatric Clinical Immunology and Rheumatology, Aster CMI Hospital
7 years of experience

Primary Immunodeficiency in Children

All of us fall sick, some regularly and some not so regularly. When it comes to children, the frequency of illnesses is much higher than in adults. The immune system is still developing, and many children fall sick more often than others. This is something we are all aware of and have come to terms with. However, what if your child has some serious underlying condition behind that repeated infection? What if that recurring sinus infection was an indication of something more serious than just a cold and regular ear infections?

Primary immunodeficiency disorder is a common but not easily considered disease that impacts the lives of many children. Not sure what it is exactly? Here, let us break it down for you.

In This Article

What is Immune System?

The immune system is the body’s defense mechanism against infections and diseases. It is a highly complicated network of proteins and tissues. The immune system is immature at birth. As the baby grows and is exposed to various environmental factors, bacteria, viruses, and infections, the immune system also grows and develops.

The immune system has a very strong memory of every infection it fights. So, the next time an infection attacks the body again, the immune system knows how to fight it effectively. This memory includes what the immune system acquired for itself by fighting microbes as well as what it was given/ taught by vaccinations.

When this immune system does not work properly, the body gets into trouble. It can lead to immunodeficiencies, autoimmune disorders, and allergies. Some may be more susceptible to these than others. This is because each person’s immune system works differently.

What is Primary Immunodeficiency?

Primary immunodeficiency is a disorder that obstructs the immune system’s functioning. When the immune system does not function as it should, it makes you more prone to infections and diseases.

The primary immunodeficiency group comprises more than 450 disorders. These disorders can affect any part of the body.

So, what is it exactly? What causes this disorder? Primary ImmunoDeficiency Disorder (PIDD) happens due to genetic mutations in the parts of the immune system. PIDD passes down genetically from one generation to the next, making this a genetic disorder rather than an acquired one. This is most likely to surface before an individual turns 20 years old. Some diseases are more common in men than in women.

Causes of Primary Immunodeficiency Disorders in Children

PIDD is a genetic disorder and is the result of genetic mutations passing down from one generation to the next. When a genetic mutation of a particular cell passes down from a parent to a child, it increases the chances of the child developing PIDD.

The possible effects of this disorder on your immune system are:

  • Defective immune system.
  • Completely absent/the immune system is not present.
  • Immunity is lesser than it normally should be.
  • In the majority of cases with PIDD, the B cells are defective. These cells help the body destroy bacteria and viruses that attack it, by producing the required antibodies. When this system gets compromised, the immune system gets weak and cannot fight infections effectively.

Signs and Symptoms of PIDD in Children

So, how can you know if someone has primary immunodeficiency? How can you tell it apart from the regular illnesses?

Here are some signs and symptoms to help you identify PIDD:

  • Repetitive infections that are not easy to treat or cure
  • Swelling of lymph nodes
  • Spleen enlargement
  • Loss of weight
  • Growth is not up to the mark
  • Requirement of more antibiotics than normal to cure certain illnesses
  • History of PIDD in the family
  • Developing side effects and problems after getting a live vaccine

It is quite easy to miss PIDD and pass it off as a regular infection or just a weak immunity. However, it is important to find out why that immunity is weak.

The doctor may not efficiently identify PIDD if not provided with sufficient information and case history. We often have a tendency to visit multiple doctors and take multiple opinions for recurring infections, especially when we do not find a solid solution to the condition.

In such cases, the new doctor will not be aware of your previous history of infections. An idea of infection repetitions, the full history of treatments, and medications are crucial to properly diagnosing PIDD. When this information is not available, the doctor may misdiagnose the condition, leading to further problems.

[Read : Symptoms And Treatment Of Thrush In Babies]

Warning Signs Indicating PIDD in Your Child

kid having sinus infection due to low immunity

Many varieties of PIDD differently affect the way an immune system works. Some of them do not surface or cause trouble until the person is well into adulthood. However, others can cause problems right from birth and show themselves soon after.

For this reason, SCID (Severe Combined Immunodeficiency) screening forms part of the screening tests immediately after birth in first-world countries (e.g.-USA).

Now, if your child got a negative result for the screening done right after birth, but has some other variety of PIDD, how will you know? How can you find out? Time is of the essence here. The sooner you detect such an issue, the better are the chances for a treatment to work.

Here are some signs and symptoms that can indicate your child might have primary immunodeficiency:

1. Infections

Primary immunodeficiency affects the immune system and makes it weak. It will make your child more prone to illnesses and infections as the body is unable to put up a good fight.

It is quite natural to not think much about infections unless they are rare. However, even the regular infections can tip you off about your child’s immunodeficiency.

Stay alert if your child catches these infections

  1. Sinus Infections that occur two or more times within a year with moderate severity.
  2. Ear Infections that occur eight or more times within a  year.
  3. Pneumonia episodes that happen two or more times within a year.
  4. Meningitis
  5. Bronchitis infections recurring twice or more in a year.
  6. Skin Infections that turn recurrent and troublesome.
  7. Recurring deep infections or organ abscesses.
  8. Thrush

Now, these are very common illnesses, especially in young children whose immunity is still developing. However, if your child seems to contract these infections regularly and requires medications and antibiotics to bring down the severity, you need to consider PIDD.

If your child has primary immunodeficiency, they will also contract:

  • Uncommon infections
  • Infections that cannot be treated easily
  • Serious infections which require hospitalization
  • Infections that seem to last much longer than the norm

2. Visible Signs

So, apart from infections, how else can you tell if your child has primary immunodeficiency? What are some of the “visible” signs that help a doctor diagnose the child might have some underlying issue that requires a deeper look or more tests?

Your child might:

  • Have trouble gaining weight
  • Not Meet the required age-appropriate growth
  • Have oral thrush (fungal infection in the mouth) that does not go away despite treatment
  • Not have lymph nodes or tonsils
  • Develop oral ulcers

Weight and growth-related issues are very common with young children, especially with a picky eater or a child suffering from reflux. So, do not fear the worst if your child is not meeting all those weight requirements you see on charts online. Only a doctor can diagnose this condition.

Children may struggle to gain weight for a variety of reasons and PIDD is just a possibility to consider.

[Read : 8 Reasons Why Your Child Is A Fussy Eater]

3. Invisible Signs

When it comes to PIDD, the condition can be quite tricky since some signs are not so easy to notice. They do not show up obviously making diagnosis difficult, especially when genetics is the primary cause.

Primary immunodeficiency occurs due to the passing of a defective gene. If you or someone in the family has PIDD, the chances of your child getting it are quite high. In cases of family history, you must be more vigilant and get your child checked for PIDD in case of any anomalies or frequently occurring illnesses.

You should also inform the pediatrician or doctor about the family history. This will help them diagnose it more accurately.

Some of the other invisible signs or symptoms that can be easily missed are

  • Digestive issues
  • Loss of appetite
  • Stomach cramps
  • Diarrhea

Since these conditions are extremely common and almost everyone suffers from such illnesses, doctors might miss them. Informing the doctor about your medical history can be very helpful in catching the disease before it is too late.

Diagnosing PIDD in Children

blood test to identify Immunoglobulin level

It is quite common for children to fall sick repeatedly. So how does a doctor confirm your child in fact has PIDD?

Here are a few ways in which doctors diagnose PIDD

A) Doctors will get a complete medical history of your child including details about PIDD in the family, what the screening tests at birth revealed, etc.

B) They will perform a physical exam.

C) Doctors will then ask for some blood tests to confirm the condition such as

  • White blood cell count (weaker the immunity, lower will be the white blood cells. Also, if the white blood cell count is high without any active infection, then it can indicate a problem in the immune system).
  • Immunoglobulin level
  • B-cell count, T-cell count

D) Finally, the doctor may prescribe an antibody test. For this test, the doctor will give a vaccine and then test for antibodies produced by the body in response to the vaccine. A few days after the vaccine, the doctor or lab technician will draw blood to check for antibodies.

Once the doctor confirms it as primary immunodeficiency, the course of action will be different. The doctor will aim to treat the immune system rather than prescribe basic medications for colds, coughs, etc.

Your doctor might also suggest some long-term treatment. Each case is unique when it comes to health issues.

Treating Primary Immunodeficiency in Children

Since there are more than 450 varieties of diseases that classify under primary immunodeficiency, the treatment will differ. Different infections or illnesses will have different treatment options.

Generally, antibiotics and immunoglobulins form the first line of treatment. Sometimes, the doctor might also prescribe the following antiviral drugs for viral infections

  • Interferon
  • Acyclovir
  • In extreme cases where the bone marrow is not producing a sufficient amount of lymphocytes, a bone marrow transplant might be required.

Steps Post Diagnosis of PIDD in Children

Immunologist checking a kid

So, what happens to a child after diagnosis with PIDD? DO they have a permanent cure? Can the treatment help curb the disease completely?

While some diseases need lifelong medications, many PIDDs can be cured! One treatment option is a bone marrow transplant. If you have a child with PIDD, you can always discuss this option with your doctor. Based on the type of PIDD, your doctor will be able to guide you appropriately. As many doctors may not be aware of these conditions, you may need to consult an Immunologist (preferably a Pediatric Immunologist) to discuss the health of your child with PIDD. Living with PIDD is a challenge. Parents must be diligent and follow all protocols given by the doctor, to ensure the child is safe and does not get infected easily. This can be very tough for both the child and the parents. However, with some patience and proper guidance patients with PIDD and their parents can lead a happy and productive life without sacrificing much.

[Read : Teaching Children The Importance Of Hand Washing]

Caring For a Child With PIDD

 healthy lifestyle - Primary Immunodeficiency in Children

Having a child with PPD can be quite a stressful and disheartening experience for any parent. No parent can sit and watch their child suffer. However, while the diagnosis is not in your hands, everything else is. You cannot drastically improve the immune system, especially if it is a severe case of primary immunodeficiency. However, you can control certain other factors.

In order to prevent recurring infections that not only make them suffer but also weaken the immune system, you can

  • Teach them to wash their hands properly and regularly
  • Keep their teeth clean
  • Encourage a healthy lifestyle – sufficient sleep, being physically active, and nutritious food
  • Avoid taking them to crowded places that can be filled with infected people
  • Make lifestyle changes to accommodate their weak immune system

Living with PIDD can be a major lifestyle change. It can be difficult to make your child understand. You need to be patient, empathetic, and understand children are going to want to be children. They don’t care about any mess, infections, illness, etc. It will be a slow journey to get them to accept the health condition.

FAQ’s

1. Can I Prevent My Child From Getting Primary Immunodeficiency?

Preventing PIDD in the firstborn can be difficult unless somebody in the family has been previously diagnosed with the condition. However, you can always prevent the occurrence in your next children with the help of genetic testing. In the next pregnancy, doctors (fetal medicine experts) can test the baby in the womb for changes of PIDD. In case the fetus shows the condition, you can discuss termination options with your doctor. If the fetus does not show the condition in the womb, then you have passed the acid test and will have a healthy baby!

2. If Someone in the Family Has PIDD, Will My Child Definitely Get it Too?

A family history of primary immunodeficiency is a strong predictor of your child having the same problem. However, it is not compulsory that your child should have PIDD. Your child will be tested initially at birth and a repeat test a few months later. (as the baby will have the mother’s antibodies at birth). If both the tests are negative, you can relax.

However, you must watch out for the signs and symptoms mentioned earlier, and if you notice any of them, inform your doctor and get your child checked again for PIDD.

3. How Should I Take Care of My Child Diagnosed With PIDD?

If your child has been diagnosed with primary immunodeficiency, the condition can be maintained and kept under control with the help of appropriate medications and timely treatments. Teach your child to follow a healthy lifestyle and implement proper hygiene. You may have to make lifestyle changes as a family to support a child suffering from PIDD. Check with your doctor regarding treatments and check-ups.

As a parent, you must stay vigilant and proactive when it comes to your child’s health. Ensure to protect your child from infections that can cause harm. This may require you to avoid crowds, change the entire family’s eating habits, etc. If your child’s immunity is absent or very weak, the doctor might suggest your child avoid certain sporting or physical activities.

4. Can I Give All the Vaccines if My Child Has PIDD?

Live vaccines must be avoided in severe PIDD. You must consult your doctor before giving any vaccine to your child with PIDD.

5. Can My Child be Cured of PIDD?

Different PIDDs need different treatments. While some can be cured, others cannot be! Every child with PIDD can lead a productive life but may need to be cautious. If certain triggers have been identified, they need to protect themselves from them. They should avoid or at least reduce exposure to reduce the frequency of infections and illnesses.

If certain required changes are adapted to as a way of life, your child can live without unnecessary worry and stress. Severe PIDD requires a lot of dedication and discipline. In certain PIDD, children may need to take monthly shots of immunoglobulin injections for life! Some of the PIDD conditions can be cured with a bone marrow transplant. This is not only life-saving but a life-changing procedure for the whole family!

 Conclusion:

Primary immunodeficiency disorder is common. It is more prevalent than we are aware of. In many cases, the diagnosis is made very late as the doctor might miss the queues or the parent might miss telling the doctor certain facts.

Not catching this disease in time can be very risky. It might lead to some irrecoverable damages. It can even affect your child’s organs. Remember, each case is different.

What happened to someone with PIDD need not happen to you or your child. Do not jump to conclusions and stress yourself. Your child is watching you and they can feed off their parents’ stress. It is up to the parent to keep the child relaxed, which in turn can reduce the impact of certain illnesses.

Read Also: Breathing Problems In Children – Causes And Symptoms

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Dr. Sagar Bhattad, MBBS, MD Pediatrics
DM - Pediatric Clinical Immunology and Rheumatology, Aster CMI Hospital
7 years of experience

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