These rare inherited illnesses are subdivided into several subgroups classified according to whether their main effect is on antibody production, cellular immunity, or both.
Combined immunodeficiencies patients have defects that affect both cellular and antibody components of the immune response. Symptoms usually start in the first years of life with serious, recurrent infections. Without treatment these diseases are often fatal in infancy. Several different genetic conditions cause a similar clinical picture. For example, severe combined immunodeficiency (SCID) is caused by mutations in the interleukin-2 receptor, and adenosine deaminase (ADA) deficiency is caused by mutations in the gene coding for the enzyme adenosine deaminase.
Disorders in which antibody deficiency predominates Patients can have defective antibody formation because B lymphocytes either do not develop or do not function normally. Immunoglobulin A (IgA) deficiency is the most common primary immunodeficiency. It affects approximately one in 700 Caucasians and results in absent or very low levels of IgA. The range of symptoms and severity is wide. Some people are completely healthy, and others have recurrent sinus, lung, and gastrointestinal infections. Another disorder is common variable immunodeficiency (CVID), with an estimated incidence of between one in 50,000 and one in 200,000. It affects men and women and is often diagnosed only in early adulthood. The symptoms are recurrent sinus and lung infections, diarrhea, and autoimmune disease. Infections with Streptococcus pneumoniae and Haemophilus influenzae are frequent, but infections with other organisms occur. In CVID levels of all antibodies are decreased, but because another function of B cells is to signal T cells, T cell responses (cell-mediated immunity) can also be affected. IgA deficiency is increased in the families of people with CVID, and there are families where some members have CVID and others IgA deficiency.
Autoantibodies occur more often in patients with primary immunodeficiencies than in healthy people, and autoimmune illness can occur. This is most common in CVID, affecting approximately 20 percent of patients. A range of autoimmune disorders can occur, including thyroid disease, hematological disease, polyarthritis resembling rheumatoid
ARTHRITIS, SYSTEMIC LUPUS ERYTHEMATOSUS, and SJOGREN'S syndrome. The arthritis associated with CVID is usually chronic and affects knees, wrists, ankles, and fingers but unlike rheumatoid arthritis does not cause erosions of bone. In the primary immunodeficiencies there is an increased risk of developing lymphoma.
The treatment for the primary immunodeficiencies associated with severe T cell or enzyme defects is bone marrow transplantation. In patients with defective antibody production immunoglobulin replacement therapy with intravenous immunoglobulin (IVIG) decreases the risk of infections.
inclusion body myositis (IBM) This form of inflammatory muscle disease (compare with dermato-myositis and polymyositis) was discovered just over 30 years ago. Since then it has been increasingly recognized and is now the most common muscle disease in people over the age of 50 years. It occurs mostly in older people and is more frequent in men.
The cause is unknown. Biopsy of involved muscle shows characteristic pinkish-colored inclusions and rimmed vacuoles (cavities) under the ordinary microscope. There are also some lymphocytes invading the muscle and wasting of some muscle fibers. The electron microscope shows the inclusions to be filaments just like those found in the brains of people with Alzheimer's disease. Further investigations have shown that they contain beta-amyloid protein as in Alzheimer's. While this does not identify what is causing the disease, it does throw light on the process of muscle damage. It should be stressed that patients with IBM are not more likely to develop Alzheimer's disease.
Weakness in affected muscle groups is the main problem. Unlike other inflammatory muscle disease, the weakness of IBM comes on very slowly. Although, like polymyositis, it affects the muscles around the hips and shoulders, IBM is distinct in also affecting the muscles of the forearms and lower legs. Characteristic problems are weakness in gripping objects and in lifting the toes and feet upward. Weakness and thinning of the quadriceps muscles (large muscle group in front of thigh) is also very characteristic of IBM. Some patients develop signs of nerve damage as well.
There is usually a slow increase in weakness over a period of years. The muscles used for swallowing are often affected later on, and this can cause not only problems with getting adequate nutrition but also recurrent chest infections.
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