Combined immunodeficiencies
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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| Combined immunodeficiencies | |
|---|---|
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Increased susceptibility to infection, failure to thrive |
| Complications | Autoimmune disease, cancer |
| Onset | Usually in infancy or early childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations affecting the immune system |
| Risks | Family history of immunodeficiency |
| Diagnosis | Genetic testing, blood tests, immunological assays |
| Differential diagnosis | Severe combined immunodeficiency, HIV/AIDS, other primary immunodeficiencies |
| Prevention | N/A |
| Treatment | Bone marrow transplant, immunoglobulin therapy, antibiotics |
| Medication | N/A |
| Prognosis | Varies depending on severity and treatment |
| Frequency | Rare |
| Deaths | N/A |
Combined Immunodeficiencies (CID) are a group of immune system disorders that are characterized by recurrent and severe infections, often from a very young age. These conditions are caused by defects in the immune system that affect the functioning of both the T cells and B cells.
Overview
Combined immunodeficiencies are a group of disorders that primarily affect the immune system. These disorders are characterized by increased susceptibility to infections, particularly those caused by bacteria, viruses, and fungi. The immune system is composed of various types of cells that work together to defend the body against harmful substances. In people with combined immunodeficiencies, the immune system is not able to function properly, leading to recurrent and severe infections.
Causes
Combined immunodeficiencies are usually caused by genetic mutations that affect the development or function of the immune system. These mutations can be inherited from parents or can occur spontaneously during the development of the immune system.
Symptoms
The symptoms of combined immunodeficiencies can vary widely, but they often include recurrent infections, growth delays, and an increased risk of developing autoimmune disorders or cancers. The severity of the symptoms can also vary, with some people experiencing mild symptoms and others experiencing severe and life-threatening complications.
Diagnosis
The diagnosis of combined immunodeficiencies is usually based on a combination of clinical findings, laboratory tests, and genetic testing. Laboratory tests can help to identify abnormalities in the immune system, while genetic testing can help to identify the specific mutation that is causing the disorder.
Treatment
The treatment of combined immunodeficiencies is usually aimed at managing the symptoms and preventing complications. This can include antibiotics to treat infections, immunoglobulin therapy to boost the immune system, and in some cases, bone marrow transplantation to replace the defective immune system.
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Contributors: Prab R. Tumpati, MD