What signs indicate that testing for Primary Immune Deficiency should be considered?
1-Severe fatigue all the time
2- Two or more and ear,sinus infections, pneumonia within one year
3- Two or more months of antibiotics with little effect
4-Failure of an infant to gain weight or grow normally
5-Recurrent, deep skin or organ abscesses
6-Persistent thrush in mouth or elsewhere on skin, after age one7
7- Two or more deep-seated infections such as meningitis, osteomyelitis, cellulitis or sepsis
What causes immune deficiency?
Mycoplasma infections and vitamin deficiencies cause most of immune deficiency. A woman who had immune deficiency , no hair and infertility got pregnant, grew hair in one month after using a tens unit and her multiple infections went away. Read the story in our e-book.
What types of primary immune deficiency diseases exist?
Primary immune deficiency diseases cause increased susceptibility to infections as well as other problems. For simplicity, these diseases can be categorized into four groups according to what part of the immune system is affected:
1. ANTIBODY DEFICIENCIES
Antibodies are proteins made by specialized white blood cells: B cells (B lymphocytes) and plasma cells. The function of antibodies is to recognise infectious agents so that they can be blocked. Two examples of antibody deficiencies are:
- Common Variable Immune Deficiency (CVID) is the most common form of antibody deficiency, usually presenting with recurrent chest and sinus infections in childhood or early adulthood, although most cases are diagnosed in adults. Early recognition can prevent permanent damage to the lungs called bronchiectasis.
- The best test for CVID is IgG level and IgG subclass testing see the link on left column.
- X-linked Agammaglobulinaemia can present in infancy, later childhood or adulthood. Infants with this deficiency develop recurrent pus producing infections of the ears, lungs, sinuses and bones and can get infections in the bloodstream and internal organs. They are also susceptible to certain viruses such as hepatitis and polio.
2. COMBINED IMMUNE DEFICIENCIES
T cells (T lymphocytes) are specialized white blood cells that are critical to a healthy immune system. People who lack T cells also tend to have weak antibody defenses, and this is called combined immunodeficiency. These disorders are very rare and hereditary. The most common is X-linked Severe Combined Immunodeficiency (SCID) which is due to a defective gene for T cell growth. Patients are usually diagnosed within the first year of life and require gene therapy or bone marrow transplantation to survive.
3. COMPLEMENT DEFICIENCIES
The complement system consists of a group of proteins that attach to antibody coated foreign invaders like bacteria and viruses. People with complement deficiencies lack may develop antibodies that react against the body's own cells and tissues. The most common of these deficiencies is C2 Deficiency. This defect can cause an autoimmune disease such as Systemic Lupus Erythematosus (SLE) or can result in severe infections such as meningitis. The illnesses usually appear in childhood or in early adulthood.
4. PHAGOCYTIC CELL DEFICIENCIES
Phagocytes include white blood cells (neutrophils and macrophages) that engulf and kill antibody coated foreign invaders. Phagocytes can be defective either in their ability to kill pathogens or in their ability to move to the site of an infection. In either case, the defect results in increased infections. The most severe form of phagocytic cell deficiency is Chronic Granulomatous Disease which is an inherited deficiency of molecules needed by neutrophils to kill certain infectious organisms. People with chronic granulomatous disease develop frequent and severe infections of the skin, lungs and bones and develop localised, swollen collections of inflamed tissue called granulomas.
Improved therapy can lead to a better and longer life
Research has led to improved therapy for people with primary immune deficiency diseases.
Treatment options include:
The use of antibiotics to treat and prevent infections and an action plan for early management of infections are key elements in the treatment of primary immune deficiency diseases.
Immune system molecules, such as interferon gamma, can be used to improve immune function and reduce infection in primary immune deficiency diseases.
III. IMMUNOGLOBULIN REPLACEMENT THERAPY
One of the most effective and most commonly used treatments for primary immune deficiency diseases is immunoglobulin replacement therapy, to replace antibody levels. This can be injected into the vein (intravenous immunoglobulin or IVIG) about once a month, or administered at home in certain cases using injections under the skin (subcutaneous immunoglobulin or SCIG). These products must be restricted because of limited supply and doctors need to follow specific guidelines to ensure that the product goes to those most in need.
To ensure future supplies of immunoglobulin replacement therapy people can assist by regularly donating plasma to the Australian Red Cross Blood Service. To find out how, where and when you can donate plasma, phone the Australian Red Cross Blood Service on 13 14 95.
IV. BONE MARROW TRANSPLANTATION
For patients with combined immune deficiency diseases, transplantation of bone marrow cells from a family member with identical human leukocyte antigens (HLA) can result in normal immune function. Tissue typing of human leukocyte antigens (HLA) greatly decreases the risk of rejection and of graft versus host disease (GVHD).
V. OTHER TREATMENTS
There are several other treatments available for disorders associated with primary immune deficiency diseases.
- Common Variable Immune Deficiency (document currently under review)
- Immunoglobulin replacement therapy for Primary Immune Deficiency Disease
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