Page 542 - Clinical Immunology_ Principles and Practice ( PDFDrive )

CHaPTEr 36 Immunodeficiencies at the Interface of Innate and Adaptive Immunity 521

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and mild CMC in the absence of other clinical manifestations. this chapter. We thank all the members of the Human Genetics
The three homozygous mutations identified, S38L, Q329X, and of Infectious Diseases Laboratory for helpful discussions. The
Q441X, affect both IL-17 and IFN-γ immunity. As predicted by Laboratory of Human Genetics of Infectious Diseases is supported
studies in mice, the lack of functional ROR-γT protein prevents by grants from the Rockefeller University Center for Clinical
the development of IL-17-producing T cells, accounting for the and the Rockefeller University. The Laboratory of Human Genetics
chronic candidiasis observed in these patients. Surprisingly, the of Infectious Diseases is supported by the March of Dimes, the
patients also lacked mucosal-associated invariant T (MAIT) cells ANR, the INSERM, the FRM, and the PHRC.
and invariant natural killer T cells (iNKT), which normally
produce IFN-γ and can inhibit intracellular mycobacterial replica- Please check your eBook at https://expertconsult.inkling.com/
tion. Moreover, their conventional CD8 α/β and γ/δ T cells, for self-assessment questions. See inside cover for registration
unlike their CD4 α/β T and NK cells, produced only very small details.
amounts of IFN-γ. ROR-γ/ROR-γT thus plays a critical role in
MAIT and iNKT development, and in the capacity of CD8 and
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for their assistance in making possible the studies contained in human model. Annu Rev Immunol 2002;20:581–620.