There are several types of immunodeficiency diseases. Some of them are congenital and in some of the diseases, the immune system develops abnormalities after birth. Most of the immunodeficiency diseases are rare and hereditary, and the symptoms are seen in children, according to David Hellmann, M.D., Chairman at John Hopkins Bayview Medical Center in "Current Medical Diagnosis & Treatment."
DiGeorge Syndrome
In DiGeorge syndrome, mutations and deletions in chromosomes cause abnormal structures. Infants may have congenital heart abnormalities, an underdeveloped or missing parathyroid gland, an underdeveloped or missing thymus gland and a cleft palate. They will start to have reoccurring infections shortly after they are born, writes Rebecca Buckley, M.D., Professor of Pediatrics and Professor of Immunology at Duke University School of Medicine in "The Merck Manual for Healthcare Professionals." The thymus gland is necessary for the T cells to mature. T cells are a type of white blood cell and are part of the immune system. Infants with an underdeveloped or missing thymus gland will not have the mature white blood cells they need to fight certain infections. The parathyroid gland regulates the calcium levels in the blood. Infants with DiGeorge syndrome may have low calcium levels. They will develop tetany, or spasms, in the first two days of life.
Selective IgA Deficiency
Antibodies are proteins which are part of the immune system. They are made by the B cells, a type of white blood cell. IgA is a type of antibody found in the saliva, tears, and secretions of the respiratory, intestinal and genital tracts. Its job is to prevent bacteria and viruses from being able to attach to the mucous membrane that lines these tracts. Dr. Hellmann writes in "Current Medical Diagnosis & Treatment," that the selective IgA deficiency is the most common type of immunodeficiency disease. Approximately one in every 500 people have this disorder. Most people do not have any symptoms because other types of antibodies compensate. People with symptoms may have reoccurring infections like bronchitis, otitis and sinusitis. Bronchitis is the inflammation of the bronchi airways of the lungs. Otitis is an inflammation in the ear, while the inflammation of the sinuses is called sinusitis.
Ataxia-Telangiectasia
There is a gene mutation in this immunodeficiency disease. As a result, children may have ataxia, or a lack of stability and coordination, when they first start to walk. Their muscles will be weak, they will slur their speech and have abnormal eye movements, according to Dr. Buckley in "The Merck Manual for Healthcare Professionals." When they are approximately four to six years old, they will have telangiectasia, especially on the sides of their necks, on their ears, behind their knees, in front of the elbow and in the eye. Telangiectasia are enlarged blood vessels. The children may also have reoccurring respiratory infections because many of them have low levels of IgA antibodies.
References
- "Current Medical Diagnosis & Treatment 2010"; Stephen McPhee, M.D., Maxine Papadakis, M.D.; 2010
- The Merck Manual for Healthcare Professionals: Ataxia-Telangiectasia
- The Merck Manual for Healthcare Professionals: DiGeorge Syndrome
