Parents’ Guide to Immune Disorders in Children

Primary immunodeficiency disorders (PIDDs) in children

Immunodeficiency means that part of or all your immune response is weakened, leaving you vulnerable to severe and repeated infections. The Centers for Disease Control and Prevention (CDC) has identified over 400 PIDDs.

The most common PIDD is selective IgA deficiency, which occurs in as many as 1 in 300 people. In this disorder, your B lymphocytes (a type of white blood cell) can’t make a certain class of antibody called immunoglobulin A (IgA). This can lead to recurrent respiratory tract infections, among other complications.

But selective IgA deficiency can also be quite mild, with many affected people remaining symptom-free their entire life. Treatment is nonspecific, sometimes including preventive antibiotics or vaccinations.

Other PIDDs are relatively rare. Taken together, they occur in about 1 in 1,200 U.S. children. Examples include:

• severe combined immunodeficiency (SCID)
• common variable immunodeficiency (CVID)
• X-linked agammaglobulinemia (XLA)
• DiGeorge syndrome
• hyper-IgM syndrome
• hyper-IgE syndrome (Job’s syndrome)
• chronic granulomatous disease (CGD)
• leukocyte adhesion deficiency (LAD)

The Immune Deficiency Foundation (IDF) maintains a helpful alphabetized list with details on the most common types of PIDDs.

Symptoms of immunodeficiency disorders

Symptoms of PIDDs often appear during infancy or toddlerhood. However, the onset and severity of symptoms vary depending on the type of disorder. Common symptoms include:

• recurrent infections (pneumonia, ear infections, sinusitis, abscesses)
• unusual infections (deep organ abscesses, unusual pathogens)
• difficulty treating infections (such as requiring several treatment courses)
• weight loss or slow growth
• wound healing problems and skin concerns
• chronic diarrhea
• enlarged lymph glands or spleen
• susceptibility to certain cancers

How do doctors diagnose immunodeficiency disorders?

If a doctor suspects a PIDD, they may ask questions about your child’s previous infections, request a family medical history, and order blood testing to check the components of your child’s immune system.

Genetic testing, medical imaging, and certain skin tests or biopsies may also be helpful.

Doctors can detect some PIDDs, like SCID, during routine newborn screening.

If your child’s doctor suspects or confirms a PIDD, they may refer you to specialists in immunology, infectious disease, or genetics for expert care.

What’s the outlook for children with primary immunodeficiency disorders?

The overall outlook depends on your child’s specific diagnosis. But in general, outcomes have steadily improved over recent decades.

Advances like earlier and more accurate diagnostic methods, preventive antibiotic and vaccine protocols, and new treatments — including stem cell transplantation and gene therapy — have all combined to extend life expectancy.

For example, doctors previously considered SCID a fatal disease with a life expectancy of less than 2 years. But they can now diagnose SCID in the newborn period and cure it with a stem cell transplant.

Secondary immunodeficiencies in children

Immune deficiencies that are not inherited are called secondary immunodeficiencies. These can arise from:

• infections, like HIV, measles, or COVID-19
• immunosuppressive drugs, such as:
  • corticosteroids
  • chemotherapy agents
  • medications used to treat people with autoimmune conditions or organ transplants
• medical conditions, such as:
  • cancers
  • chronic kidney disease
  • burns or severe trauma
  • severe nutrient deficiencies

Some secondary immunodeficiencies are temporary and reversible, while others are chronic or incurable.

Autoimmune disorders in children

In autoimmune diseases, your immune system mistakenly attacks your body as if it were a foreign invader. This causes inflammation and damage to your own healthy tissues.

Sometimes an autoimmune disease targets only one organ or body part. But in other autoimmune diseases, the inflammation can affect your whole body.

The overall prevalence of autoimmune diseases in children is around 5% worldwide, although there’s significant geographic variability.

Childhood autoimmune diseases are usually chronic. They’re often manageable but not curable. If your child receives a diagnosis of an autoimmune disease, their doctor will likely refer them to a pediatric specialist for expert care.

Some of the most common autoimmune disorders in children include:

• Type 1 diabetes: With type 1 diabetes, your immune system destroys the cells that produce insulin. A doctor can diagnose type 1 diabetes based on blood sugar tests and levels of certain antibodies. In-depth care from a pediatric endocrinologist may include dietary and blood sugar monitoring, along with insulin replacement therapy.
• Juvenile idiopathic arthritis (JIA): The seven distinct conditions under the JIA umbrella cause joint pain and swelling and can lead to damage and growth problems without treatment. For a diagnosis, symptoms must begin before the 16th birthday and last at least 6 weeks. Treatment directed by a pediatric rheumatologist may involve pain medications, disease-modifying antirheumatic drugs, and biologics.
• Celiac disease: In celiac disease, genetic susceptibility and exposure to dietary gluten combine to trigger your immune system. Doctors may suspect celiac disease if your child experiences chronic diarrhea or constipation, bloating and abdominal discomfort, or unexplained anemia. A pediatric gastroenterologist can help treat your child with a combination of a strict gluten-free diet and close monitoring.

Experts know of at least 80 different autoimmune diseases. Other rare types among children include:

• inflammatory bowel disease (IBD), which includes Crohn’s disease and ulcerative colitis
• autoimmune thyroid disease, such as Graves’ disease and Hashimoto thyroiditis
• systemic lupus erythematosus
• juvenile dermatomyositis
• juvenile spondyloarthropathies
• autoimmune hepatitis
• scleroderma
• Addison’s disease

Atopic diseases in children

Atopy is extremely common, affecting about 10% to 30% of people in developed countries. In atopy, your immune system overreacts to harmless external stimuli, causing a form of allergic reaction.

First, your white blood cells mistakenly identify an environmental “threat,” such as pollen, and prompt production of IgE antibodies against it. On repeat exposure, your immune system produces an inflammatory, allergic response.

Examples of common atopic diseases include:

• allergic rhinitis
• allergic conjunctivitis
• allergic asthma
• atopic dermatitis (eczema)
• food allergies
• some types of drug allergies

Researchers believe there’s a strong genetic component to atopy. Atopy tends to run in families, and having one atopic condition predisposes you to developing another. But inheritance is complex, and environmental triggers also play a role.

Immune-mediated inflammatory disorders (IMIDs) in children

IMIDs are a diverse group of diseases that involve similar pathways of chronic inflammation. People with IMIDs have an immune imbalance, with overactive, pro-inflammatory signaling molecules and decreased activity of the factors that calm inflammation.

Like many other immune system disorders, IMIDs tend to run in families. Doctors believe an interplay between your genes and your environment causes IMIDs.

IMIDs include autoimmune diseases like lupus, JIA, and IBD, but also other types of auto-inflammatory disorders, such as:

• asthma
• periodic fever syndromes
• psoriasis
• autoimmune lymphoproliferative immunodeficiencies (ALPID)

You can generally treat these diseases with medications, although a pattern of relapse and remission is common.

Frequently asked questions

What is the most common autoimmune disease in children?

Celiac disease is the most common autoimmune disease, with an estimated prevalence of 0.5 to 1% and rising.

Other common autoimmune disorders in children include type 1 diabetes, JIA, autoimmune thyroid diseases, and IBD.

At what age do primary immunodeficiency disorders (PIDDs) show up?

PIDDs are a wide-ranging group of disorders of differing severities, and age at diagnosis is highly variable. One recent study found that about 30% of people with PIDDs presented within the first year of life.

Can I prevent my child from getting an immune disorder?

PIDDs are genetic. If you have a family history of PIDDs, it’s worth talking with a doctor when you begin planning to have children.

But generally, parents can neither cause nor prevent their children from developing immune system diseases, including PIDDs, autoimmune diseases, atopy, IMIDs, and many secondary immunodeficiencies.

One notable exception is HIV. Read more about HIV prevention.

Are immune disorders contagious?

In general, no. But people with immunodeficiency of all types can be more prone to infections, and those infections may be contagious. A notable exception is HIV, which can be transmitted via infected blood or bodily fluids.

Takeaway

Your immune system is an intricate array of cells, organs, and chemicals responsible for protecting you against foreign threats and invaders. There are hundreds of known immune system disorders, many of which can cause serious illness.

Immunodeficiencies impair your immune system’s ability to identify and eliminate threats. Babies born with genetic primary immunodeficiencies may show symptoms early in life. But secondary or acquired immunodeficiencies, caused by infections, medications, and other medical problems, can develop at any age.

In autoimmune diseases, like type 1 diabetes or celiac disease, your immune system mistakenly attacks your own healthy tissues. Although treatable, autoimmune diseases are often chronic and can sometimes be debilitating. Some common conditions like asthma and psoriasis also have an immune component.

Talk with your child’s doctor to learn more about how a specific immune disorder may affect your child’s life and what treatments are available.