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1. Introduction
2. NK cell functions
3. NK cell inhibition
4. NK cell activation (missing self)
5. NK cells in defense
6. Measuring cytotoxicity
7. The NK cell lytic immunological synapse
8. NK cell synapse (3-D reconstruction)
9. NK cell synapse (electron micrograph)
10. NK cells and human single gene deficiencies
11. Wiskott-Aldrich syndrome and NK cells
12. NK cell deficiency in Wiskott-Aldrich syndrome
13. WASp function
14. WASp and F-actin accumulation
15. WASP deficiency affects F-actin accumulation
16. WASp is essential for synapse events
17. Lytic granule traffic requires microtubules
18. The sequence of events leading to the synapse
19. Stages of lytic immunological synapse formation
20. Steps in lytic immunological synapse formation
21. A video of immunological synapse formation
22. Case presentation I - history
23. Case presentation II- laboratory studies
24. Case presentation III - clinical course
25. Case presentation IV - NK cell function
26. HLH diagnostic guidelines
27. Management of HLH
28. Case presentation V - diagnosis of FEL3
29. Hematophagocytic lymphohistiocytosis
30. Model for HLH
31. Molecular defects leading to HLH
32. Steps in immune-mediated cytolysis
33. Single gene diseases and NK cell defects (1)
34. Single gene diseases and NK cell defects (2)
35. NK cell population: age-specific normal varies
36. Isolated deficiencies of NK cells in humans
37. ANKD
38. CNKD
39. FNKD
40. What suggests NKD
41. Practical approach to NKD
42. Comprehensive approach to NKD
43. Management of NKD
44. Conclusions

Topics Covered

• NK cell deficiency
• Critical role of NK cells in human host defense
• Recognition of NK cell deficiencies in the context of other genetic human immunodeficiency
• Phenotypes of isolated NK cell deficiencies
• Insights into basic NK cell biology and immunity from experiments of nature

Links

Series:

• Natural Killer Cell Biology

Categories:

• Genetics & Epigenetics
• Immunology

Therapeutic Areas:

• Immunology & Inflammation

Talk Citation

Orange, J. (2009, September 23). Immunodeficiencies and genetic mutations affecting NK cells in humans [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved May 29, 2025, from https://doi.org/10.69645/PNAJ3741.
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Publication History

• Published on September 23, 2009
• Archived on May 28, 2025

Financial Disclosures

• Dr. Jordan Orange has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.