1Department of Medical Laboratory Science, College of Medical Sciences, Ahmadu Bello University, Zaria, Nigeria2
Immunology Unit, Department of Medicine, Ahmadu Bello University, Zaria, Nigeria3
Faculty of Medicine, Selcuk University, Konya, Turkey4
Department of Health Services, Federal University Birnin Kebbi, Nigeria 5
Division of Translational Medicine, Research Branch, Sidra Medicine, Doha, Qatar6
CinnaGen Medical Biotechnology Research Center, Alborz University of Medical Sciences, Karaj, Iran7
Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
Published: 01 July 2021
Accepted: 15 July 2020
Received: 07 May 2020
T subpopulation cells which are involved in the host protection against microbes such as extracellular and intracellular bacteria, parasites, fungi, and viruses. Monogenic defects including those mutations in some genes such as the signal transducer and activator of transcription (STAT)1 and 3, dedicator of cytokinesis 8 (DOCK8), autoimmune regulator (AIRE), and interleukin 17 receptor A (IL-17RA) can lead to impairment in Th17 cell development and function along with the concomitant increased risk for chronic mucocutaneous candidiasis (CMC). The immunologic abnormalities in these patients include low frequency of Th17 cells; defective cutaneous or
T cell response to Candida species, and/or autoantibodies against relevant cytokines. This review outlines the biological characteristics and functionality of Th17 cells, as well as the clinical features of individuals with genetic defects associated with Th17 deficiency.
Th17 cells; STAT1; STAT3; DOCK8; AIRE; IL-17RA; chronic mucocutaneous candidiasis.
Cite this article as:
Anka AU, Abdullahi IN, Umar K, Bello ZM, Mohammed M, GachpazSarkhiz S, Abubakar NK, Alsabbagh M, Kamali AN, Azizi G. Biological and clinical significance of T helper 17 cell deficiency: insight into monogenic defects. Eur Ann Allergy Clin Immunol 2021;53(4):149-160. doi:10.23822/EurAnnACI.1764-1489.160.