Causes and risk factors
The immune system consists of 2 types – innate and adaptive. The innate immune system provides non specific protection against infections. It includes anatomical barriers, phagocytic cells, cytokines, complement system and natural killer cells. Adaptive immune system provided specific protection against invading pathogens. It consists of lymphoid organs, humoral and cellular immunity. When a part of immune system does not function properly or is completely absent, it leads to immune deficiency disease. Primary immunodeficiency disease [PIDD] occurs if the cause is genetic or inherited. Primary immunodeficiency of innate immune system involves primary phagocyte deficiency, complement pathway deficiency. Primary immunodeficiency involving adaptive immune system consists of deficiency of B or T cell lymphocytes, antibody deficiency [IgM, IgG, IgA etc]. Positive family history of the disease is an important risk factor.
Clinical presentation
The important symptom of primary immunodeficiency is high susceptibility to infection. The infections are long lasting and it is difficult for patient to recover. The infections include frequent pneumonia, bronchitis, sinusitis, meningitis, skin infections like deep abscesses. Gastrointestinal diseases like diarrhoea, nausea, and vomiting, abdominal colic. Patient may present with swollen lymph nodes, enlarged spleen, liver and other organs. Autoimmune diseases like SLE, diabetes, rheumatoid arthritis may be present. Blood disorders like anaemia, thrombocytopenias are observed. Delayed growth and development, loss of weight can be seen in children. Approximately 200 types of PIDD have been identified.
Investigation
Medical history by the patient and Clinical examination by the doctor helps in diagnosis. Routine blood tests are recommended. Prenatal testing is advised where there is positive family history of the disease. Genetic testing is done.
Treatment
Treatment depends upon the underlying cause and presenting symptoms. Symptomatic treatment with antibiotics, analgesics, NSAIDs is given. Prevention of infection is necessary. Vaccines with live viruses such as oral polio, MMR should be avoided in children. Further treatment consists of immunoglobin therapy, gamma interferon therapy which enhances the function of immune system.
Other Modes of treatment
The other modes of treatment can also be effective in treating PIDD. Homoeopathy is a science which deals with individualization considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly the ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating PIDD.
