Immune system deficiency?
I would like to ask Dr.
Yang...
Everyone knows that acquired immune deficiency is commonly known as AIDS.
So, is there such a thing as congenital immune deficiency? If so, what are its symptoms? What treatment options are available? Could you please respond to me? If medical attention is needed, could you recommend a good specialist in Taiwan?
Ding, 20~29 year old female. Ask Date: 2006/03/26
Dr. Yang Kunde reply Rare Disease
Dear netizens:
To answer your questions:
1.
The term "acquired immunodeficiency syndrome" is named in relation to "congenital immunodeficiency disorders," which existed prior to it.
2.
Congenital immunodeficiency disorders are caused by genetic defects present at birth, with over a hundred known types, and possibly more yet to be discovered.
3.
Symptoms primarily manifest as recurrent infections (such as diarrhea or repeated pneumonia and otitis media); some individuals may present with allergies or arthritis.
4.
Congenital immunodeficiency disorders can be evaluated by pediatric allergy, immunology, and rheumatology specialists.
This response is provided by Yang Kun-Te.
Reply Date: 2006/03/26
More Info
Primary immunodeficiency diseases (PIDs) are a group of disorders caused by intrinsic defects in the immune system, leading to increased susceptibility to infections, autoimmune diseases, and malignancies. Unlike secondary immunodeficiencies, which are acquired due to external factors such as infections (like HIV), medications, or malnutrition, primary immunodeficiencies are typically genetic and present from birth or early childhood.
Symptoms of Primary Immunodeficiency:
The symptoms of primary immunodeficiency can vary widely depending on the specific type of deficiency. Common signs include:
1. Frequent Infections: Individuals may experience recurrent infections, such as pneumonia, sinusitis, ear infections, and skin infections. These infections may be more severe and prolonged than those seen in healthy individuals.
2. Autoimmune Disorders: Some individuals may develop autoimmune conditions where the immune system mistakenly attacks the body's own tissues, leading to conditions like rheumatoid arthritis or lupus.
3. Failure to Thrive: In children, failure to thrive or poor growth can be a significant indicator, as recurrent infections may impede normal growth and development.
4. Chronic Diarrhea: Some types of immunodeficiency can lead to gastrointestinal issues, including chronic diarrhea.
5. Allergic Reactions: Increased susceptibility to allergies and asthma can also be a symptom of certain primary immunodeficiencies.
6. Delayed Recovery from Infections: Individuals may take longer to recover from infections, requiring more intensive treatment.
Diagnosis:
Diagnosis of primary immunodeficiency typically involves a thorough medical history, physical examination, and specific laboratory tests. These tests may include:
- Complete blood count (CBC) to assess white blood cell counts.
- Immunoglobulin levels to measure antibodies in the blood.
- Specific antibody response tests to evaluate how well the immune system responds to vaccines.
- Genetic testing to identify specific genetic defects.
Treatment Options:
Treatment for primary immunodeficiency varies based on the specific type and severity of the condition. Common treatment approaches include:
1. Immunoglobulin Replacement Therapy: For individuals with low antibody levels, intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG) can help boost the immune response.
2. Antibiotic Prophylaxis: Regular use of antibiotics may be recommended to prevent infections, especially in individuals with recurrent infections.
3. Gene Therapy: In some cases, particularly for specific genetic defects, gene therapy may be an option.
4. Stem Cell Transplantation: For severe forms of primary immunodeficiency, stem cell transplantation may provide a potential cure by replacing the defective immune system with a healthy one.
5. Management of Autoimmune Conditions: If autoimmune disorders are present, immunosuppressive therapies may be necessary.
Expert Care in Taiwan:
In Taiwan, there are several reputable medical centers and specialists who focus on immunology and primary immunodeficiencies. Institutions such as National Taiwan University Hospital, Chang Gung Memorial Hospital, and Mackay Memorial Hospital have departments specializing in pediatric allergy, immunology, and rheumatology. It is advisable to consult with a pediatric immunologist or an adult immunologist, depending on the patient's age, for a comprehensive evaluation and tailored treatment plan.
If you suspect that you or your child may have a primary immunodeficiency, it is crucial to seek medical attention promptly. Early diagnosis and intervention can significantly improve outcomes and quality of life for individuals with these conditions.
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