There are two main types: Primary and Secondary.
-Primary: Mostly these are inherited single-gene disorders that present in infancy in early childhood with the exception of common variable immunodeficiency which usually occurs in adults. The overall incidence of symptomatic primary immunodeficiency is estimated to be 1/10,000. About 80% of patients are less than 20 years old when diagnosed, because the majority of cases are inherited or congenital. 70% occur in males due to X-linked inheritance in many syndromes. B-cell defects account for 50% of primary immunodeficiency, T-cell defects for 30%, phagocytic deficiencies 18% and complement deficiencies 2%.
-Secondary: Due to a long list of causes, but it is known that the two current epidemics of AIDS and tuberculosis have caused global increases in the condition. Secondary immunodeficiency is also common in people who are hospitalised for various diseases: Chronic lymphatic leukaemia and myeloma, patients treated for leukaemia with bone marrow transplants.
Drugs: These particularly include cytotoxic drugs and immunosuppressants including steroids.
Viruses: HIV, congenital rubella infection and cytomegalovirus.
Malnutrition and deficiencies of vitamins and trace elements, particularly vitamin A, zinc and selenium.
Liver and kidney failure; following major surgery or severe trauma, etc.
The commonest presenting feature and the one which usually raises the possibility of immunodeficiency is frequent infections. The development of severe, persistent recurrent bacterial infection is a better pointer. A common scenario is repeated episodes of 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 carinii or cytomegalovirus, especially in patients with T-cell deficiencies.
Infection of the skin and mucous membranes occur frequently, including resistant thrush, oral ulcers and periodontitis. Conjunctivitis, pyoderma, severe warts, alopecia, eczema, and telangiectasia are also prominent features. Common gastrointestinal symptoms include diarrhoea, malabsorption, and failure to thrive. The diarrhoea is usually noninfectious, although a range of organisms, including rotavirus, Giardia lamblia, rotavirus, Cryptosporidium and cytomegalovirus may be involved. Neurological problems such as seizures and encephalitis, and autoimmune conditions such as vasculitis and arthritis are also sometimes seen.
Specialist tests are often required to elucidate the exact diagnosis, but screening tests can be done in primary care.
These should include full blood count, IgG, IgM and IgA levels, and tests to confirm the presence and type of any infection. An elevated ESR is a pointer to chronic infection,and chest and sinus X-rays may confirm the source.
Appropriate microbiological swabs should be taken, as dictated by the clinical picture.
More advanced investigations might include assays of lymphocyte response, antibody response to immunisation of diphtheria, tetanus, and pneumococcus polysaccharides, phagocytosis assay, and quantitation of individual complement components.
Yes, we do. I would suggest initially a full Wellman/Wellwoman screening (cost £135) and a consultation to discuss history, symptoms, examination, etc; then if appropriate this could be followed by a Total Immune Function Evaluation, that includes IgG subclasses 1-4 and Lymphocyte Subsets (CD4/CD8), which is a bit expensive at £300. Also you need to add the consultation fee of £125 to those prices.
Best wishes,
Jose
Immunodeficiencies
Antibodies to Vaccinations
Full Well Women
Linear Mode
