Ikaros-Associated Diseases: From Mice to Humans and Back Again

The normal expression of Ikaros (IKZF1) is important for the proper functioning of both the human and murine immune systems. Whilst our understanding of IKZF1 in the immune system has been greatly enhanced by the study of mice carrying mutations in Ikzf1, analyses of human patients carrying germline...

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Main Authors: Brigette Boast (Author), Cristiane de Jesus Nunes-Santos (Author), Hye Sun Kuehn (Author), Sergio D. Rosenzweig (Author)
Format: Book
Published: Frontiers Media S.A., 2021-07-01T00:00:00Z.
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100 1 0 |a Brigette Boast  |e author 
700 1 0 |a Brigette Boast  |e author 
700 1 0 |a Cristiane de Jesus Nunes-Santos  |e author 
700 1 0 |a Hye Sun Kuehn  |e author 
700 1 0 |a Sergio D. Rosenzweig  |e author 
245 0 0 |a Ikaros-Associated Diseases: From Mice to Humans and Back Again 
260 |b Frontiers Media S.A.,   |c 2021-07-01T00:00:00Z. 
500 |a 2296-2360 
500 |a 10.3389/fped.2021.705497 
520 |a The normal expression of Ikaros (IKZF1) is important for the proper functioning of both the human and murine immune systems. Whilst our understanding of IKZF1 in the immune system has been greatly enhanced by the study of mice carrying mutations in Ikzf1, analyses of human patients carrying germline IKZF1 mutations have been instrumental in understanding its biological role within the human immune system and its effect on human disease. A myriad of different mutations in IKZF1 have been identified, spanning across the entire gene causing differential clinical outcomes in patients including immunodeficiency, immune dysregulation, and cancer. The majority of mutations in humans leading to IKAROS-associated diseases are single amino acid heterozygous substitutions that affect the overall function of the protein. The majority of mutations studied in mice however, affect the expression of the protein rather than its function. Murine studies would suggest that the complete absence of IKZF1 expression leads to severe and sometimes catastrophic outcomes, yet these extreme phenotypes are not commonly observed in patients carrying IKZF1 heterozygous mutations. It is unknown whether this discrepancy is simply due to differences in zygosity, the role and regulation of IKZF1 in the murine and human immune systems, or simply due to a lack of similar controls across both groups. This review will focus its analysis on the current literature surrounding what is known about germline IKZF1 defects in both the human and the murine immune systems, and whether existing mice models are indeed accurate tools to study the effects of IKZF1-associated diseases. 
546 |a EN 
690 |a primary immunodeficiency 
690 |a inborn errors of immunity 
690 |a transcription factors 
690 |a infection 
690 |a cytopenia 
690 |a T cell 
690 |a Pediatrics 
690 |a RJ1-570 
655 7 |a article  |2 local 
786 0 |n Frontiers in Pediatrics, Vol 9 (2021) 
787 0 |n https://www.frontiersin.org/articles/10.3389/fped.2021.705497/full 
787 0 |n https://doaj.org/toc/2296-2360 
856 4 1 |u https://doaj.org/article/1df391b13e3a47e49d5e9592450e8bc0  |z Connect to this object online.