Is it just a routine infection or a primary immune deficiency?

Without a properly functioning immune system, the body's ability to fight infection is compromised.

Without a properly functioning immune system, the body’s ability to fight infection is compromised.

Colds, ear infections and other common illnesses are a normal part of childhood. However, some kids have persistent, chronic infections that may signal an underlying problem, known as a primary immunodeficiency or primary immune disorder.

These are genetic conditions where either part of the immune system is missing or it doesn’t function properly. Some are more common, while others are quite rare. They can range from mild to severe.

Without a properly functioning immune system, the body’s ability to fight infection is compromised.

Often the condition isn’t diagnosed until adulthood, so those who are affected may spend years battling illnesses and seeing multiple doctors in search of answers.

“When primary immune disorders go undiagnosed, individuals have a terrible quality of life. Because they are sick a lot, they are forced to miss school and other activities,” said Dr. Nancy Wasserbauer, an allergist/immunologist in the Akron Children’s Hospital Center for Allergy and Immunology. “This can be very frustrating, especially when it’s unclear as to what’s going on.”

Signs and symptoms

A big red flag is when IV antibiotics are needed to clear an infection or a child must be hospitalized for what would be a routine illness in other kids.

Other symptoms of primary immune disorders include:

  • Chronic ear infections
  • Chronic sinusitis
  • Pneumonia
  • The need for frequent antibiotics
  • Severe skin rashes with infection

In infants, symptoms may also include:

  • Chronic thrush
  • Chronic diarrhea
  • Failure to thrive

“If there’s a family history of immune disorders or more than one child is sickly, that could also be a warning sign,” Dr. Wasserbauer Kingston said.

Diagnosis and treatment

When a primary immune disorder is suspected, blood tests are performed to identify possible defects in the immune system. Treatment is customized to the specific type of primary immunodeficiency.

In some cases, these disorders may not be life-long, as under-developed immune systems mature and begin to function properly.

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