Immunodeficiency 26
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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| Immunodeficiency 26 | |
|---|---|
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Recurrent infections, autoimmune disorders |
| Complications | Increased risk of cancer |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations in the SP110 gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, blood tests |
| Differential diagnosis | Other forms of immunodeficiency |
| Prevention | N/A |
| Treatment | Immunoglobulin therapy, antibiotics, hematopoietic stem cell transplantation |
| Medication | N/A |
| Prognosis | Variable, depending on severity and treatment |
| Frequency | Rare |
| Deaths | N/A |
Immunodeficiency is a state in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. Immunodeficiencies can be classified as either primary or secondary.
Types of Immunodeficiency
Primary Immunodeficiency
Primary immunodeficiencies are usually genetic and present at birth. They are often inherited in an autosomal recessive pattern, as depicted in the diagram. These conditions are rare and can affect various components of the immune system, including B cells, T cells, and complement proteins.
Secondary Immunodeficiency
Secondary immunodeficiencies are acquired later in life and are more common than primary immunodeficiencies. Causes include HIV/AIDS, malnutrition, and certain medical treatments such as chemotherapy and immunosuppressive drugs.
Symptoms
Individuals with immunodeficiency may experience frequent and severe infections, which can be recurrent and difficult to treat. Common symptoms include:
Diagnosis
Diagnosis of immunodeficiency involves a combination of clinical evaluation and laboratory tests. These may include:
- Complete blood count (CBC)
- Quantitative immunoglobulins
- Specific antibody response tests
- Genetic testing for primary immunodeficiencies
Treatment
Treatment depends on the type and severity of the immunodeficiency. Options may include:
- Antibiotics to treat infections
- Immunoglobulin therapy
- Bone marrow transplant for severe cases
- Lifestyle modifications to reduce infection risk
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Contributors: Prab R. Tumpati, MD