Immune System:

The immune system consists of several organs in the body including spleen, tonsils, bone marrow, and lymph nodes. These organs produce and release immune cells, which in turn fight off attacking bodies called antigens such as bacteria, viruses and cancer cells.

What is hereditary immunodeficiency disease?

One of the most important functions of the natural immune system is to protect the body from infection. So, if the person is infected by any of the following:

  • infections unusually persistent, frequent or resistant to treatment.
  • infections from unusual spreading methods or uncommon microbes
  • unexpectedly server infections
  • These conditions can be explained as immunodeficiency, a condition in which the ability of the immune system to resist disease is impaired.

    Most immunodeficiencies are acquired (secondary immunodeficiency), but some children are born with immune system problems (primary immunodeficiency) caused by inherited defects in the immune system, known as primary immunodeficiency. Many of these rare diseases appear in childhood, but they may appear in adulthood in some cases.

Causes of hereditary immunodeficiency diseases:

Primary immunodeficiency diseases develop as a result of defects in the genes that control the immune system and are therefore inherited. These diseases can be classified into four groups according to the affected part of the immune system:

  • Type I Antibodies deficiency
  • Type II Combined immunodeficiency, which is primarily T cells deficiency
  • Type III Complement deficiency. Complement system is a group of proteins that help antibodies to recognize and attack infectious objects.
  • Type IV Cell Phagocytic deficiency, a deficiency in white blood cells that are involved in the elimination of infectious bodies.
  • These four main categories include more than 300 congenital immunodeficiency disease.

When should I suspect that my child has a genetic immunodeficiency?

  • If the child has more than 8 attacks of otitis media within one year.
  • If the child has more than two cases of acute sinusitis within one year.
  • If the child has more than two pneumonia within one year.
  • If the child undergoes antibiotic treatment for more than two months within one year.
  • Poor longitudinal growth or poor weight gain.
  • If the child has frequent attacks of extreme heat.
  • If the child has a persistent fungal infection in the mouth or skin.
  • If the child undergoes frequent prolonged intravenous antibiotic therapy.
  • If the child has two cases of serious infections within one year.
  • If the child has continuous chronic diarrhea.
  • If the child has frequent abscesses in the skin or organ of the body.
  • If congenital immunodeficiency disease is present in the child's family.

How we can diagnose the disease?

History and clinical examination.

Complete blood test, designed to study the number and function of immune cells.

Prenatal examination: for couples with a previous child diagnosed with primary immunodeficiency, and the gene that causes the disease has been identified, in which case a sample is taken from the amniotic fluid.

What are the treatments methods?

Treatment of primary immunodeficiency disease is divided into:

Treatment of infection as it occurs:

Antibiotics are used either for treatment or to prevent infection and in some cases, intravenous antibiotics are used. This is in addition to treatment of symptoms of pain or hyperthermia.

Strengthen the immune system based on the type of disease:

  • Gamma Globulin therapy; either injected intravenously once every 3-4 weeks or subcutaneously once a week to once a month.
  • Interferon gamma: It is a component of the immune system and is used to strengthen it and reduce infection.
  • Bone marrow transplant or stem cell transplantation. This method is the most effective and successful treatment, and used for life-threatening types such as combined immunodeficiency, in which bone marrow cells are transplanted from a healthy person to the patient. In most cases, the person is to be one of the patient’s relatives to ensure that the compatibility of tissues received by the patient to reduce the likelihood of rejection by the immune system. This intervention is expected to return to the immune system its normal function, but may not. In addition, chemical or radiation medications should be also used in some cases to kill the patient's immune cells before transplantation and temporarily puts the patient at greater risk to become infected.