Common variable immunodeficiency
The variable immunodeficiency syndrome (English common variable immunodeficiency, CVID ) is the most common human disease leading to a symptomatic congenital (primary) immunodeficiency. It is mainly characterized by the lack of a specific class of antibodies, the immunoglobulin G. The exact cause of the disease is unknown, but is likely a heterogeneous group of various individual diseases. Affected patients usually suffer from an accumulation of respiratory infections, there are also a variety of other possible symptoms. In addition to infections of various body parts (especially by bacteria ), this also includes autoimmune phenomena and cancer. Usually, the disease with infusions of immunoglobulin G is treated.
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Causes
Can be only in a minority of cases, the variable immune deficiency syndrome, the exact cause of the present state of research to determine. Some sufferers have been found mutations in the TNFRSF13B gene locus on chromosome 17 p11.2, which are believed to be responsible with the variable immune deficiency syndrome related. It occurs in both familial as sporadic forms of the disease.
Overall, it can be assumed that it is the variable immune deficiency syndrome is a heterogeneous group of different individual illnesses with different causes are that are so far largely unknown.
Frequency and occurrence ( Epidemiology )
The frequency of the variable immunodeficiency syndrome in Germany is estimated at 1 per 25,000 people, the estimates for industrialized nations are between 1:10,000 and 1:100,000. It is believed that 800-3200 people are affected in Germany. So there are a total of a rare disease, even if it is one of the most common congenital immunodeficiencies.
The age distribution at the time of diagnosis there are two " summit ": The early form is usually found in infancy, the late form in young adulthood.
Hospital and symptoms
The symptoms of variable immune deficiency syndrome can be assigned to the following groups: infections, disorders of the gastrointestinal tract, chronic respiratory diseases, skin lesions, changes of lymphatic tissue, granulomas, autoimmune phenomena and tumors.
Infections:
- Respiratory infections due to encapsulated bacteria (eg, Haemophilus influenzae, Streptococcus pneumoniae, Moraxella catharralis )
- Inflammation of the brain ( encephalitis ) by enteroviruses
- Chronic diarrheal disease caused by Giardia
- Urinary tract infections caused by Mycoplasma
Disorders of the gastrointestinal tract:
- Diarrhea (about 1/ 3 of patients )
- Insufficient absorption of nutrients ( malabsorption )
Chronic respiratory diseases:
- Cavernous extensions of the lower airways ( bronchiectasis )
Changes of lymphatic tissue:
- Enlargement of liver and spleen ( hepato- splenomegaly)
Granulomas:
- Inflammation with specific construction in internal organs such as the liver, spleen, lungs and bone marrow
Autoimmune phenomena:
- Reactive arthritis ( reactive arthritis )
- Immunologically related lack of platelets ( immune thrombocytopenia, about 20 % of patients)
- Immunologically induced anemia ( autoimmune hemolytic anemia)
- Pernicious anemia (about 10% of patients)
Skin symptoms:
- Hair loss ( partly as alopecia areata )
- White spot disease ( vitiligo )
- Granulomas of the skin
Tumors:
- Thymomas
- Malignant Lymphomas
- Stomach cancer
Diagnosis
The suspicion of a common variable immunodeficiency syndrome often results from recurrent respiratory infections. However, it may also be a chance finding, which is caused by a serum electrophoresis or a determination of immunoglobulins from other reasons. As a rule, falls in affected patients already in the serum electrophoresis, a reduction of the gamma - globulin fraction on.
First, the suspected diagnosis is made by quantitative determination of immunoglobulins. The immunoglobulin G in serum is always lowered, usually it is less than 3 g / l Frequently immunoglobulins A and M is also reduced. An essential component of the diagnosis is thus a lack of antibodies in the blood.
In order to make the diagnosis of a variable immune deficiency syndrome definitely, other possible causes of the antibody deficiency must be excluded. These include, for example, a multiplication of monoclonal immunoglobulin light chains ( Bence-Jones Myeloma ), a strong loss of protein by the kidney (nephrotic syndrome) or the intestine ( exudative enteropathy ).
Also, some immunological special examinations, such as the determination of the immunoglobulin G subclasses, flow cytometric analysis of peripheral blood lymphocytes and measurement of specific antibody production are necessary.
Differential Diagnosis
- Bruton agammaglobulinemia ( XLA )
- Autosomal recessive agammaglobulinemia ( Swiss type)
- Hyper- IgM syndrome
- Transient hypogammaglobulinemia in infancy
- Combined immunodeficiency (SCID etc. )
- Multiple myeloma (especially Bence Jones myeloma)
- Nephrotic syndrome (protein loss through the kidneys )
- Exudative enteropathy (protein loss through the intestines )
Therapy
Treatment is necessary only in patients who suffer from the illness of complaints. Preventive treatment in asymptomatic patients is not indicated. As an effective treatment option is the regular intravenous infusion of immunoglobulin ( IVIG abbreviated ) are available. The infusions are administered every 2-6 weeks at a dose of 200 to 600 mg per kg body weight. The aim of this treatment is to always keep the immunoglobulin G in serum above 5 g / l. In addition, all arising in the course of the disease bacterial infections with antibiotics to be treated.
Forecast
Overall, it is not expected that patients with common variable immunodeficiency syndrome, a similar life expectancy as healthy. The data on this, however, is sparse. As factors that limit the prognosis of the disease, in the literature referred above all tumors, severe autoimmune phenomena and chronic respiratory diseases ( bronchiectasis ).
With the introduction of IVIG therapy, the prognosis of the disease has improved substantially in recent decades.