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Questions and Answers
What are inborn errors of immunity primarily caused by?
What are inborn errors of immunity primarily caused by?
Which category of inborn errors of immunity affects both T and B cells?
Which category of inborn errors of immunity affects both T and B cells?
What is an example of a condition related to predominantly antibody deficiencies?
What is an example of a condition related to predominantly antibody deficiencies?
Which symptom is commonly associated with inborn errors of immunity?
Which symptom is commonly associated with inborn errors of immunity?
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What is a primary treatment option for managing infections in cases of inborn errors of immunity?
What is a primary treatment option for managing infections in cases of inborn errors of immunity?
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Which disorder is an example of diseases affecting regulatory T cells?
Which disorder is an example of diseases affecting regulatory T cells?
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How is hematopoietic stem cell transplant primarily used in the treatment of inborn errors of immunity?
How is hematopoietic stem cell transplant primarily used in the treatment of inborn errors of immunity?
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What defines phenocopies of inborn errors of immunity?
What defines phenocopies of inborn errors of immunity?
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Study Notes
Inborn Errors of Immunity (IEIs)
- Inherited disorders affecting immune system development and function
- Nearly 500 known IEIs, caused by genetic mutations
- Can range from mild to life-threatening, commonly presenting in childhood
Classification of IEIs
- Classified into ten categories by the International Union of Immunological Societies (IUIS)
- Combined Immunodeficiencies: Affect both T and B cells (e.g., Severe Combined Immunodeficiency - SCID)
- Predominantly Antibody Deficiencies: Affect B cells (e.g., Common Variable Immunodeficiency - CVID)
- Diseases of Immune Dysregulation: Affect regulatory T cells (e.g., Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked - IPEX syndrome)
- Congenital Defects of Phagocyte Number, Function, or Both: Affect neutrophils (e.g., Chronic Granulomatous Disease - CGD)
- Defects in Intrinsic and Innate Immunity: Affect innate immune responses (e.g., Mendelian Susceptibility to Mycobacterial Disease - MSMD)
- Autoinflammatory Disorders: Affect inflammatory pathways (e.g., Familial Mediterranean Fever - FMF)
- Complement Deficiencies: Affect the complement system (e.g., C3 deficiency)
- Bone Marrow Failure: Affect hematopoiesis (e.g., Fanconi Anemia)
- Phenocopies of IEI: Mimic IEIs but are not inherited (e.g., Autoimmune Lymphoproliferative Syndrome - ALPS)
- Autoantibody and Somatic Variants: Mimic germline conditions (e.g., Autoimmune Polyendocrine Syndrome Type 1 - APS-1)
Symptoms of IEIs
- Symptoms vary depending on the specific disorder
- Recurrent Infections: Frequent bacterial, viral, or fungal infections
- Failure to Thrive: Poor growth and weight gain
- Autoimmune Symptoms: Conditions like lupus or rheumatoid arthritis
- Chronic Diarrhea: Persistent gastrointestinal issues
- Skin Rashes: Eczema or other dermatological conditions
Treatment Options for IEIs
- Treatment strategies depend on the specific IEI and its severity
- Antibiotics and Antifungals: Manage and prevent infections
- Immunoglobulin Therapy: Intravenous infusions of antibodies to boost the immune system
- Hematopoietic Stem Cell Transplant (HSCT): Potential cure for severe cases by replacing defective immune cells
- Gene Therapy: Emerging treatments correcting genetic defects at the molecular level
Key Points for Management
- Early diagnosis and tailored treatment are crucial for managing IEIs effectively
- Regular follow-ups with immunologists and adherence to treatment plans are essential for optimal outcomes
- IEIs can cause significant health complications, but early interventions can dramatically improve quality of life and reduce complications in affected children.
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Description
This quiz explores Inborn Errors of Immunity (IEIs), which are inherited disorders that significantly impact the development and function of the immune system. Learn about the classification of nearly 500 known IEIs by the International Union of Immunological Societies (IUIS) and the various categories of these disorders. Test your knowledge on the types and characteristics of these immune deficiencies.
