Immune Deficiency Conditions

Medically Reviewed By William C. Lloyd III, MD, FACS
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What are immune deficiency conditions?

The immune system is composed of multiple types of cells, tissues, organs and proteins. The primary function of the immune system is to distinguish between self and non-self (foreign). When something that is non-self, or foreign, is encountered, the immune system attacks it to help prevent infection or other injury. Immune deficiency conditions occur when the immune system is unable to do its job.

Immune deficiency conditions can be present at birth as a result of genetic defects in any of the components of the immune system. Such conditions are called primary immune deficiencies. Immune deficiencies can also be acquired as a result of aging, diabetes, infections, cancer treatments, or medications. There are more than 150 types of primary immune deficiencies, affecting approximately 500,000 people in the United States. (Source: NIAID).

Recurrent infections in infancy and childhood may be the first indication of a primary immune deficiency. Although reducing exposure to infectious agents and treating infections are important in managing immune deficiency conditions, several primary immune deficiencies can now be treated through replacement of defective immune system components. As a result of advances in treatment, children with potentially fatal primary immune deficiencies are now living into adulthood.

S eek prompt medical care if you, or someone you are with, develop frequent infections, have persistent infections, or develop abscesses. You should also seek prompt medical care if you have an immune deficiency condition and sustain an injury or are exposed to an infectious disease.

Infections that develop in those with immune deficiency conditions can be severe or even life threatening. Seek immediate medical care (call 911) if you, or someone you are with, develop serious symptoms, such as high fever (higher than 101 degrees Fahrenheit), severe difficulty breathing, rapid heart or respiratory rate, chest pain, change in level of consciousness or mental status, severe diarrhea, seizures, weak pulse, decreased urine output, or bluish coloration of the lips or fingernails.

What are the symptoms of immune deficiency conditions?

Immune deficiency conditions weaken the body’s ability to fight off infection. Symptoms include frequent infections, severe infections, infections that don’t respond to conventional treatment, and recurrent infections. Repeated infections in children can interfere with nutrition, leading to failure to gain weight, weight loss, slow growth, and slow development. Chronic sinusitis and bronchitis are also commonly associated with immune deficiency conditions.

Common symptoms of immune deficiency conditions

Symptoms of immune deficiency conditions are generally due to the body’s inability to fight off infections. Common symptoms include:

  • Abscess formation
  • Chronic bronchitis or sinusitis
  • Developmental delays and failure to thrive
  • Failure to gain weight or unintended weight loss
  • Fatigue
  • Fevers and chills
  • Frequent serious or opportunistic infections
  • Growth problems in children
  • Infections that do not respond to conventional treatment
  • Persistent or recurrent infections
  • Repeated hospitalizations for infection
  • Swollen lymph glands

Serious symptoms that might indicate a life-threatening condition

In some cases, immune deficiency conditions can be life threatening. Seek immediate medical care (call 911) if you, or someone you are with, have any of these life-threatening symptoms including:

  • Bluish coloration of the lips or fingernails

  • Change in level of consciousness or alertness, such as passing out or unresponsiveness

  • Chest pain, chest tightness, chest pressure, palpitations

  • High fever (higher than 101 degrees Fahrenheit)

  • Not producing any urine, or an infant who does not produce the usual amount of wet diapers

  • Paralysis or inability to move a body part

  • Rapid heart rate (tachycardia)

  • Respiratory or breathing problems, such as shortness of breath, difficulty breathing, labored breathing, wheezing, not
    breathing, choking

  • Seizure

  • Severe headache

  • Weak pulse

What causes immune deficiency conditions?

Many immune deficiency conditions are genetic. Some can be traced to a single gene, while others result from multiple abnormal genes. Genetic immune deficiency conditions are called primary immune deficiencies.

Immune deficiency conditions can also be acquired. These can result from aging, diabetes, cancer treatments that decrease the production of immune cells, medications that suppress the immune system, and infections such as human immunodeficiency virus (HIV) that affect the immune system.

What are the risk factors for immune deficiency conditions?

A number of factors increase the risk of developing immune deficiency conditions. Not all people with risk factors will get immune deficiency conditions. Risk factors for immune deficiency conditions include:

  • Advanced age

  • Certain chemotherapy drugs

  • Diabetes

  • Family history of an immune deficiency condition

  • Intravenous drug use

  • Multiple blood or blood product transfusions

  • Radiation therapy

  • Steroid use

  • Unsafe sexual practices

  • Use of immunosuppressants to prevent rejection of transplanted organs or tissues or to control an overactive immune system

How are immune deficiency conditions treated?

Treating existing infections and reducing exposure to other infections are important steps in managing immune deficiency conditions. Several primary immune deficiencies can be treated with replacement of defective immune system components. Treatment of acquired immune deficiencies varies depending upon the underlying cause of immune deficiency.

Treatments for infection

Your doctor may prescribe antibiotics to treat infections and prevent their recurrence. Additional treatments may be used to help manage symptoms of infections. Treatments for infections include:

  • Antibiotics to treat or prevent infections

  • Decongestants to curtail nasal and sinus congestion

  • Expectorants to thin airway mucus secretions

  • Nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (Advil, Motrin), naprosyn (Naproxen, Aleve), and indomethacin (Indocin), to reduce fever and relieve body aches

  • Postural drainage to help clear respiratory secretions

Immune system component replacement

Formerly, children diagnosed with primary immune deficiencies rarely lived past childhood. Advances in diagnosis and treatment now allow many of these children to live into adulthood. Methods of replacing immune system components include:

  • Bone marrow transplant (many of the cells of the immune system are produced by the bone marrow)

  • Cytokine injections (natural or synthetic chemicals matching those produced by the immune cells to help activate other cells of the immune system)

  • Enzyme replacement for conditions in which inadequate enzymes are responsible for the immune deficiency

  • Growth factors to stimulate the production of different immune cells

  • Immunoglobulin injections (injections of pooled antibodies to help fight disease)

What you can do to improve your immune deficiency condition

Avoiding unnecessary exposures to infectious agents and keeping your body strong and healthy are important for reducing your risk of infections. Commonsense steps include:

  • Avoiding people known to be sick or who appear to be sick

  • Ensuring adequate nutrition

  • Maintaining good hygiene, including frequent hand washing with soap and water

What are the potential complications of immune deficiency conditions?

Complications of untreated or poorly controlled immune deficiency conditions can be serious, even life threatening in some cases. You can help minimize your risk of serious complications by following the treatment plan you and your health care professional design specifically for you. Complications of immune deficiency conditions include:

  • Adverse effects of treatment (blood transfusion, bone marrow transplant)

  • Cancer

  • Development of autoimmune diseases

  • Opportunistic infections (infections by organisms that don’t typically cause infections)

  • Permanent breathing problems

  • Sepsis (life-threatening bacterial blood infection)

  • Severe infections

  • Spread of infection

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Medical Reviewer: William C. Lloyd III, MD, FACS
Last Review Date: 2020 Nov 27
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THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. Never ignore professional medical advice in seeking treatment because of something you have read on the site. If you think you may have a medical emergency, immediately call your doctor or dial 911.
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