Definitions
Dominant-negative variant: The heterozygous altered gene product inhibits the function of the wild-type one. One of the mechanisms that can cause dominant inheritance.
Hypomorphic variants cause an incomplete loss of gene function. The mechanism can be through reduced expression or reduced function.
Haploinsufficiency occurs when the loss of one of the two copies of a gene leads to disease or phenotype. One of the mechanisms that can cause dominant inheritance.
Germline sequence variants are present in the germ cells and inherited by the progeny. Somatic sequence variants are genetic alterations acquired by the non-germ cells; these can be passed on by mitotic cell division (as in a malignant cell growth), but are not inherited by the progeny.
De novo variants result from genetic alterations that occur in the germ cells of one of the parents or in the fertilized egg; therefore, the parents of the patient are unaffected.
Zinc finger is a protein structural motif stabilized...
References
Bogaert DJ, Kuehn HS, Bonroy C, Calvo KR, Dehoorne J, Vanlander AV, Bruyne MD, Cytlak U, Bigley V, Baets FD, et al. A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects. J Allergy Clin Immunol. 2018;141:432–435.e7.
Heizmann B, Kastner P, Chan S. The Ikaros family in lymphocyte development. Curr Opin Immunol. 2018;51:14–23.
Hoshino A, Okada S, Yoshida K, Nishida N, Okuno Y, Ueno H, Yamashita M, Okano T, Tsumura M, Nishimura S, et al. Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. J Allergy Clin Immunol. 2017;140:223–31.
Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, et al. Loss of B cells in patients with heterozygous mutations in IKAROS. N Engl J Med. 2016;374: 1032–43.
Yoshida N, Sakaguchi H, Muramatsu H, Okuno Y, Song C, Dovat S, Shimada A, Ozeki M, Ohnishi H, Teramoto T, et al. Germline IKAROS mutation associated with primary immunodeficiency that progressed to T-cell acute lymphoblastic leukemia. Leukemia. 2017;31:1221–3.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Section Editor information
Rights and permissions
Copyright information
© 2018 Springer Science+Business Media, LLC, part of Springer Nature
About this entry
Cite this entry
Kumánovics, A. (2018). IKAROS (IKZF1) Deficiency. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_173-1
Download citation
DOI: https://doi.org/10.1007/978-1-4614-9209-2_173-1
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-9209-2
Online ISBN: 978-1-4614-9209-2
eBook Packages: Springer Reference MedicineReference Module Medicine