Immunodeficiency is a clinical state in which the body cannot mount a sufficient immunological response to fight against an invading organism. It leads to a disruption in the integrity of the cells of the immune system thus predisposing the body to a wide range of infections and other diseases.

Immunodeficiency is usually classified into primary and secondary (acquired) immunodeficiency.

  • Primary immunodeficiency is caused by conditions that directly affect the production of cells of the immune system
  • Secondary or acquired immunodeficiency is caused by medical conditions that suppress the immune system.

Causes and Risk Factors:

1. Primary immune deficiency states are a group of inherited disorders caused by mutations in genes that control the production of cells of the immune system. Primary immune deficiency can affect any arm of the immune system.

  • Antibody deficiencies: These are a group of disorders that affects the ability of the body to produce antibodies against invading organism. These include X-linked agammaglobulinemia, IgA, and IgG deficiency, increase in the level of circulating  IgM  and transient hypogammaglobulinemia of infancy(absence of gamma-globulins seen in infancy)
  • DiGeorge syndrome that affects the T-cell arm of the immune system
  • Myelodysplastic and myelofibrosis syndrome causing the deposition of fibrous tissues within the bone marrow affecting its ability to produce cells of the immune system

2. Secondary Immunodeficiency State

  • Infection with HIV leading to the destruction of CD4 cells and other cells of the body that protect the body from invasion by a foreign organism. And the risk is increased by sexual intercourse with an infected partner, sharing of needles and sharps and mother to child transmission
  • Diabetes mellitus
  • Presence of malignancies: Cancer causes Immunosuppression by infiltrating and crowding the bone marrow inhibiting the production of normal immune cells or by producing certain cytokines that target and destroys the cells of the immune system
  • Patients undergoing chemotherapy or radiotherapy are immunosuppressed because of the destruction of the bone marrow which handles the production of cells of the immune system
  • Severe malnutrition including protein-energy malnutrition (PEM) this is commonly seen in developing countries and war-torn countries.. Malnutrition weakens the immune system making the body susceptible to infections
  • Chronic use of steroid-containing drugs can induce immunodeficiency


Increased susceptibility to infections is the common sign of primary immunodeficiency. Those infections are long-lasting, frequent and hard to treat than the infections caused in the normal immune system. Signs and symptoms may differ according to each person’s type of immunodeficiency disorder.

Signs and symptoms include:

  • Excessive weight loss
  • Generalized body weakness
  • Anorexia, nausea and vomiting, persistent diarrhea and abdominal bloating
  • Respiratory infection presenting as a cough, sputum production, chest pain and difficulty in breathing
  • Increase risk of urinary tract infection with pain on urination, urethral discharge and symptoms of ascending infection
  • Skin infections
  • Brain affectation presenting with headaches, nervousness, tremors, seizures and coma with loss of consciousness
  • Increase risk of spontaneous bleeding, blood in urine and bleeding under the skin


Complications may also vary according to the type of immunodeficiency:

  • Pneumonia, Chest infections and respiratory failure
  • Brain damage, meningitis (inflammation of the covering of the brain), brain tumors, with neuropsychiatric manifestations
  • Increase risk of developing certain types of malignancies
  • Autoimmune disorders in which the body stimulates its immune cells to target and destroy tissues and organs of the body
  • Restriction of growth in children with associated mental retardation
  • Damage to the heart and its valves causing cardiac failure
  • Inflammation of the kidneys, kidney infection with the destruction of the kidneys causing renal failure
  • Prolonged bleeding and blood loss from reduction in the total number of functional platelets

Diagnostic Tests:

To find out if your recurrent infections are a result of primary immunodeficiency or not, your doctor will investigate about your history of infections or any close relatives have any inherited immune disorder. Tests used to diagnose Immunodeficient disorder are:

  • Blood tests: Blood tests may indicate if you have normal levels of disease-fighting protein (immunoglobulin) in the blood
  • Prenatal testing: Parents whose children suffer from immunodeficiency problems may test themselves during future pregnancies for immunodeficiency disorders. Samples can be taken from amniotic sac, blood or the cells from the tissues, that becomes the placenta are tested for abnormalities

Treatment Options:

It involves preventing and treating infections, that helps to boost the immune system. Managing infections include: Treating and preventing infections and treating the symptoms of the illness with antibiotics given whether IV or tablets.

Treatment to boost or improve the immune system involves:

  • Immunoglobulin Therapy: It consists of antibody proteins that help fight infection used by the immune system. It may either be injected in the vein i.e. IV (intravenous) or inserted under skin i.e. subcutaneous. It may be required every few weeks once or twice a week.
  • Gamma Interferon Therapy: Interferon is a natural substance fighting the illness, virus, and it also stimulates the immune cells. Whereas Gamma interferon is a synthetic or manufactured substance given as an injection in thigh or arms three times a week
  • Growth factors: If the immunodeficiency is caused by decreased or lack of certain white blood cells, then growth factor therapy helps to increase levels of immune strengthening WBCs (White Blood Cells)


Primary immunodeficiency is not something very obvious when you are around people. But the threat of being prone to infections puts you in the stress and disturbed quality of life. A proper support program can be made with your doctor for a better life.


  1. Conditions and diseases: Primary immunodeficiency
  2. Immunodeficiency Disorders
  3. About Primary Immunodeficiency
  4. Immunodeficiency Disorders