The body's defense mechanisms shield called the immune system, fights against infections and detrimental agents. When the immune system malfunctions, it manifests as an immune disorder, which may involve:
1. Primary immune deficiency, a condition where individuals are born with a weakened immune system, e.g., severe combined immunodeficiency (SCID), temporary acquired immune deficiencies.
2. Acquired immune deficiency, which occurs when a disease undermines the immune system's effectiveness, e.g., AIDs.
3. Overactive immune responses, such as allergic reactions, e.g., allergic rhinitis, asthma, eczema.
4. Autoimmune conditions which arise when the immune system erroneously attacks our own tissues, such as in conditions like lupus, type 1 diabetes, and rheumatoid arthritis.
Fig.1 The varied clinical presentations of autoimmune disorders.1, 3
| A thorough medical history, detailed family history, and comprehensive physical examination | Formulate an optimal laboratory evaluation strategy. |
| Genetic testing | Perform genetic sequencing to identify known mutations responsible for various types of primary immunodeficiency (PI), which is pivotal in confirming specific diagnoses. |
| Testing for an antibody deficiency | Evaluate the immune system's capacity to generate antibodies in response to vaccines, encompassing both T cell-dependent and T cell-independent pathways. |
| Flow cytometry | Conduct assessments of individuals with antibody deficiencies, which involves quantifying the various lymphocyte subsets in the blood. |
| CBC with differentials | Evaluate cellular (T cell) immunity, which involves assessing the absolute lymphocyte count (ALC) in the blood. |
| WBC with differentials | Assess neutrophil function, which involves determining whether there is a reduction in the absolute neutrophil count (ANC). |
| Total hemolytic complement assay or CH50 | Evaluate complement deficiencies, which involves testing for defects in the classical complement pathway. |
Immune deficiencies are typically diagnosed through blood tests assessing levels of immune components or their functional capacity. Allergic conditions are evaluated via blood tests or skin testing to pinpoint triggering allergens. In cases of excessive or autoimmune responses, treatments often involve immune-modulating medications like corticosteroids or other suppressive agents. Monoclonal antibodies are also utilized to target specific substances in the body, regulating inflammatory aspects of the immune response. These therapies aim to manage symptoms and mitigate immune-related disorders effectively. Subcutaneous immunoglobulin (SCIG) therapies are formulated from a collection of antibodies sourced from the plasma of a diverse group of healthy donors. Intravenous immunoglobulin (IVIG) is utilized for the treatment of various autoimmune conditions, such as juvenile dermatomyositis, systemic lupus erythematosus, and dermatomyositis. It is also beneficial in managing immunodeficiency conditions.
Fig.2 The role of IVIG therapy in managing Kawasaki Disease.2, 3
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