This document summarizes combined immunodeficiency (CID), a disorder characterized by defects in the production or maturation of T cells and/or B cells, leaving the body without necessary immunity. There are two main types of CID - mutagenic defects due to genetic mutations and enzyme deficiencies from lack of enzymes. Mutagenic CIDs can be autosomal recessive or X-linked. Treatments discussed include bone marrow transplantation, gene therapy, passive antibody administration, and enzyme replacement.

1. Combined Immunodeficiency A talk on the Pathogenesis & Therapies For CID Disorders of Blood & Immune SystemLecturer: Dr. Sin Yoke MinCompiled and Presented bySu Htwe Cho, BBSF1 0707A

2. CIDLack of necessary immunity in the body

3. Defects in production OR maturation of T cells &/or B cells of acquired immunity

4. Susceptible to recurrent infections; esp. by Candida albicans, Steph. aureus, etc.

5. Sterile-isolation, Immune Therapy, BM Therapy, Gene Therapy, Antibiotics.CID - PathogenesisDirectly related to production of T and B cells of the Adaptive Immunity

6. Mutagenic defects

7. Metabolic deficiencies

8. Protein Defects (DNA-binding Proteins)

9. Eight types of immunodeficiencys

10. Six out of 8 – genetic defects

11. The rest – metabolic deficienciesT cell(www.lbl.gov/Publications/Currents/Archive/Oct-03-2003.html#head0)Regulation of B Cell Development (2007)(www.tmd.ac.jp/med/mbch/projects_English.htm)

13. Mutagenic CIDDue to mutations in genes

14. Autosomal Recessive

15. ZAP-70 Deficiency

16. Bare Lymphocyte Syndrome

17. JAK3 Deficiency

18. Omenn’s Syndrome

19. X-linked