Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

IKAROS (IKZF1) Deficiency

  • Attila Kumánovics
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_173-1

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.

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References

  1. 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.CrossRefPubMedGoogle Scholar
  2. Heizmann B, Kastner P, Chan S. The Ikaros family in lymphocyte development. Curr Opin Immunol. 2018;51:14–23.CrossRefPubMedGoogle Scholar
  3. 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.CrossRefPubMedGoogle Scholar
  4. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 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.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of PathologyUniversity of UtahSalt Lake CityUSA

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA