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SCID - Coggle Diagram

- - - - Autosomal Recessive Inheritance
      - Mutated Genes (e.g., IL2RG, ADA, JAK3)
- - - - Poor Growth and Development
      - Nutritional Challenges
    - - Lack of Fever Response
      - Limited Inflammatory Signs
    - - Persistent and Severe
      - Bacterial, Viral, Fungal Infections
- - - - Immunoglobulin Levels
      - T-cell, B-cell, and NK-cell Count
      - Lymphocyte Proliferation Tests
    - - Identifying Specific Mutations
      - Carrier Testing for Family Members
    - - Confirmatory Tests
      - TREC (T-cell Receptor Excision Circles)
      - Require different
- - - - IL2RG Gene Mutation
      - Impaired T and NK cells
      - Hematopoietic Stem Cell Transplantation (HSCT)
    - - JAK3 Deficiency
      - Artemis Deficiency
      - RAG Deficiency
    - - Accumulation of Toxic Metabolites
      - Treatment Options (e.g., Gene Therapy)
      - Enzyme Deficiency
- - - - Correcting Genetic Defects
      - Promising Advances
    - - Antibiotic Prophylaxis
      - Intravenous Immunoglobulin (IVIG)
      - Avoidance of Live Vaccines
    - - Challenges and Considerations
      - Curative Approach
- - - - Enzyme Replacement
      - Advanced Gene Therapies
      - Targeted Therapies for Specific Genetic Defects
    - - Psychological Support
      - Integration into Society
    - - Adjusting Treatment Plans
      - Regular Immunological Assessments
      - Needed for all