Immunodeficiency Syndromes

Immunodeficiency Disorders

It is a group of conditions characterized by failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some cells component or substances like antibodies or cytokines.  From another point of view, immune deficiency diseases or disorders result when the immune system is either absent or not functioning properly. This type of disorder makes it easier for you to catch viruses, bacterial infections, and you will be more susceptible to Cancer.

Immunodeficiency disorders are normally classified as congenital\primary or  acquired\secondary

A congenital, or primary disorder is one you were born with As a result of hereditary or genetic conditions.  There are approximately more than 300 types of primary immunodeficiency diseases (PIDD)

Acquired, or secondary, disorders you get later in life. Acquired disorders are more common than congenital disorders.

 

Components of the immune systems

The immune system is composed of white blood cells. These cells are made in the bone marrow and travel through the bloodstream and lymph nodes. They protect and defend against attacks by “foreign” invaders such as germs, bacteria, and fungi. Antibodies are proteins that are made in response to infection or immunization and help fight infections. Complement is another blood protein that plays a protective role in the immune system.

 

Your immune system includes the following organs:

  •     spleen
  •     tonsils
  •     bone marrow
  •     lymph nodes

These organs make and release lymphocytes. These are white blood cells classified as B cells and T cells. B and T cells fight invaders called antigens. B cells release antibodies specific to the disease your body detects. T cells destroy foreign or abnormal cells.

 

Types of immunodeficiencies

Primary immunodeficiency disorders include:

There are about 200 types of primary immunodeficiency diseases identified by researchers.  They are classified into 5 different categories which are given as follows:

  • T-cell deficiencies
  • B-cell deficiencies
  • Combined T-cell and B-Cell deficiencies
  • Defective phagocytes
  • Complement deficiencies

The following diseases and conditions are linked to primary immunodeficiency disorders:

  • X-linked agammaglobulinemia (XLA)
  • common variable immunodeficiency (CVID)
  • severe combined immunodeficiency (SCID), which is known as alymphocytosis or “boy in a bubble” disease
  • ataxia-telangiectasia
  • Chediak-Higashi syndrome
  • complement deficiencies
  • DiGeorge syndrome
  • hypogammaglobulinemia
  • Job syndrome
  • leukocyte adhesion defects
  • panhypogammaglobulinemia
  • Bruton’s disease
  • congenital agammaglobulinemia
  • selective deficiency of IgA
  • Wiskott-Aldrich syndrome

 

Secondary Immunodeficiency

Secondary immunodeficiency disorders happen when an outside source like a toxic chemical or infection attacks your body. The following can cause a secondary immunodeficiency disorder:

  • severe burns
  • chemotherapy
  • radiation
  • diabetes
  • malnutrition. the most common cause worldwide.
  • Viruses – eg, HIV, HPV(Human Papilloma virus)
  • cancers of the immune system, like leukemia
  • immune-complex diseases, like viral hepatitis
  • multiple myeloma (cancer of the plasma cells, which produce antibodies)
  • Metabolic disorders – eg, renal disease requiring peritoneal dialysis.
  • Trauma or major surgery.
  • Protein loss – for example, due to nephrotic syndrome.

What is immune deficiency syndrome?

Human immunodeficiency virus / acquired immune deficiency syndrome (HIV/AIDS). HIV infects and destroys immune system cells that normally fight infections. As the number of immune system cells declines, a person’s vulnerability to infections rises steadily

 

Who is at risk for immunodeficiency disorders?

People who have a family history of primary immunodeficiency disorders have a higher-than-normal risk for developing primary disorders.

Anything that weakens your immune system can lead to a secondary immunodeficiency disorder. For example, exposure to bodily fluids infected with HIV, or removing the spleen can cause it. Spleen removal may be necessary because of conditions like cirrhosis of the liver, sickle cell anemia, or trauma to the spleen.

Aging also weakens your immune system. As you age, some of the organs that produce white blood cells shrink and produce fewer of them.

Proteins are important for your immunity. Not enough protein in your diet can weaken your immune system. Your body also produces proteins when you sleep that help your body fight infection. For this reason, lack of sleep reduces your immune defenses. Cancers and chemotherapy drugs can also reduce your immunity

 

What are the symptoms of Immunodeficiency Disease?

The most common presenting feature is frequent infections. Recurrent respiratory infections are common but this is by no means pathognomonic, as every GP will be aware of the ‘sickly child’ who seems to acquire infections from his or her siblings frequently.

The development of severe, persistent recurrent bacterial infection is a better indicator. A common scenario is repeated episodes of a sore throat or upper respiratory tract infection which lead to sinusitis, chronic otitis and bronchitis. Another feature is the ease with which complications develop. For example, bronchitis progresses to pneumonia, bronchiectasis, and respiratory failure.

Opportunistic infections are common, such as Pneumocystis jirovecii or cytomegalovirus, especially in patients with T-cell deficiencies. Infection of the skin and mucous membranes occurs frequently, including resistant thrush, oral ulcers, and periodontitis. Conjunctivitis, pyoderma, severe warts, alopecia, eczema, and telangiectasia are also prominent features.

Common gastrointestinal symptoms include diarrhea, malabsorption, and failure to thrive or losing weight. The diarrhea is usually non-infectious, although a range of organisms, including rotavirus, Giardia lamblia, Cryptosporidium spp. and cytomegalovirus may be involved.

Less commonly, hematological abnormalities such as autoimmune hemolytic anemia, leukopenia, or thrombocytopenia can occur.

Neurological problems (such as seizures and encephalitis) and autoimmune conditions (such as vasculitis and arthritis) are also sometimes seen. There is also a higher incidence of gastric carcinoma and liver disease.

Paradoxically, autoimmune diseases can be associated with primary immunodeficiencies.

Serious primary immunodeficiency typically comes apparent in infancy. For example, severe T-cell or combined immune deficiencies typically present in infancy.  However, some antibody deficiencies may present in older children or adults. In milder forms, it often takes a pattern of recurrent infections the disorder  is suspected.

 

Important signs that may indicate primary immunodeficiency include:

  • Recurrent, unusual or difficult to treat infections
  • Poor growth or loss of weight
  • Recurrent pneumonia, ear infections or sinusitis
  • Multiple courses of antibiotics or IV antibiotics necessary to clear infections
  • Recurrent deep abscesses of the organs or skin
  • A family history of PIDD
  • Swollen lymph glands or an enlarged spleen
  • Autoimmune disease

Each disorder has unique symptoms that can be frequent or chronic. Some of symptoms or signs to keep in mind :

  • pinkeye
  • sinus infections
  • colds
  • diarrhea
  • pneumonia
  • yeast infections

If these problems don’t respond to treatment or you don’t completely get better over time, your hematologists might test you for an immunodeficiency disorder.

 

How are immune disorders diagnosed?

Medical history is fundamental with a good medical examination which is accompanied by a CBC to determine your white blood cell count, determining T-cell count, and your immunoglobulin (antibodies) levels and most likely a bone marrow biopsy with cell count and possible gene and chromosomal testing.

Occasionally the hematologist can challenge you immune systems by giving a vaccination and test your immune system response, This called an antibody test.  The Hematology  will give you the vaccine.  Then  he or she  will tests your blood for a response to the vaccine a few days a week later. If you don’t have an immunodeficiency disorder, your immune system will produce antibodies to fight the organisms in the vaccine. You might have a disorder if your blood test doesn’t show antibodies.

 

How are immunodeficiency disorders treated?

The treatment for each immunodeficiency disorder will depend on the specific conditions. For example, AIDS causes several different infections. Your doctor will prescribe medications for each infection. And you may be given an antiretroviral to treat an HIV infection if appropriate.

Treatment for immunodeficiency disorders commonly includes antibiotics and immunoglobulin therapy. Other antiviral drugs, amantadine, and acyclovir, or a drug called interferon are used for the treatment of the viral infections caused by immunodeficiency disorders.

If your bone marrow isn’t producing enough lymphocytes, your doctor might order a bone marrow (stem cell) transplant.

Primary immunodeficiency treatment is targeted toward the specific immune defects and can include transplantation (bone marrow, stem cell, thymus), immunoglobulin (antibody) replacement, preventative antibiotics and strategies to manage an autoimmune disease.  Gene therapy has been successful in some specific types.

Some of biologicals treatments include:

Biologic therapies, as the name implies, are products derived in some way from living organisms. These treatments include a variety of vaccines, blood components and proteins that are either derived from natural sources or are synthesized in the laboratory.

Vaccines. Some vaccines are used to boost the immune system such as influenza, PPD, and hepatitis.

Blood Components. Whole blood is composed of cells (red and white) and liquid plasma; blood is an ap-proximate 50:50 mix of each. The most commonly used blood product is an infusion of packed red blood cells, which are administered to patients who have experienced acute blood loss. While plasma contains no cells, it is rich with blood proteins, and the three most important are albumin, globulins and fibrinogen. Globulins include immunoglobulins, which are antibody proteins produced by special immune cells (B-lymphocytes) and are key components in preventing infection. These immunoglobulins can be separated into immunoglobulins (Ig) A, M, G, D and E and are referred to as IgA, IgM, IgG, IgD, and IgE. Purified IgG can be separated from the plasma of large numbers of normal, donor individuals who have been carefully screened to ensure that they are healthy and are not carrying any infectious organisms. This purified IgG contains a broad range of specific antibodies to many different types of bacteria and viruses and is most commonly administered to patients with various types of immunoglobulin deficiency diseases.

Proteins. Proteins useful for the treatment of diseases include a small number of naturally-occurring proteins called cytokines. Cytokines are proteins which the body uses to both activate and suppress immune cells which are involved in immune regulation and protection against infections. Interleukin-2 (Aldesleukin) is an approved therapy for certain cancers, while interferon gamma and interferon alpha are used as treatments for specific types of infectious illnesses and immune deficiency states.

Monoclonal antibodies, or MAbs, are laboratory-produced antibodies that target specific proteins that are involved in disease processes. These proteins may be floating freely in the plasma or may be found on cells. To create MAbs, researchers typically inject mice with a target protein found in humans. Once the mice begin to make antibodies to this foreign, human protein, the antibody-producing B-lymphocyte cells from the mice are harvested. These mouse B-lymphocytes are then fused in the laboratory to special cells to create a long-lasting hybridoma, which divides repeatedly to produce identical daughter cells, or clones. These single clone, or “monoclonal”, antibodies, are all identical to one another and can be produced in large quantities.

The information in this document does not replace a medical consultation. It is for personal guidance use only. We recommend that patients ask their doctors about what tests or types of treatments are needed for their type and stage of the disease.

Sources:

  • American Cancer Society
  • The National Cancer Institute
  • National Comprehensive Cancer Network
  • American Academy of Gastroenterology
  • National Institute of Health
  • MD Anderson Cancer Center
  • Memorial Sloan Kettering Cancer Center
  • American Academy of Hematology

 

 

 

 

 

 

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