Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity with Cancer Predisposition
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F22%3A10442605" target="_blank" >RIV/00216208:11130/22:10442605 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/22:10442605
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=KwJ4st-PXf" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=KwJ4st-PXf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jaip.2022.03.012" target="_blank" >10.1016/j.jaip.2022.03.012</a>
Alternative languages
Result language
angličtina
Original language name
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity with Cancer Predisposition
Original language description
Inborn errors of immunity are genetically and clinically heterogeneous disorders, that in addition to infection susceptibility and immune dysregulation, can have an enhanced cancer predisposition. The increasing availability of upfront next generation sequencing diagnostics in immunology and oncology have uncovered substantial overlap of germline and somatic genetic conditions that can result in immunodeficiency and cancer. However, broad application of unbiased genetics in these neighboring disciplines still needs to be deployed, and joined therapeutic strategies guided by germline and somatic genetic risk factors are lacking. We illustrate the current difficulties encountered in clinical practice, summarize the historical development of pathophysiological concepts of cancer predisposition, and review select genetic, molecular, and cellular mechanisms of well-defined and illustrative disease entities such as DNA repair defects, combined immunodeficiencies with EBV susceptibility, autoimmune lymphoproliferative syndromes, regulatory T-cell disorders, and defects in cell intrinsic immunity. We review genetic variants that when present in the germline cause inborn errors of immunity with cancer predisposition, but when arising as somatic variants behave as oncogenes and cause specific cancer entities. We finally give examples of small molecular compounds that are developed and studied to target genetically defined cancers but might also proof useful to treat inborn errors of immunity.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30102 - Immunology
Result continuities
Project
<a href="/en/project/NV18-05-00162" target="_blank" >NV18-05-00162: Modern approach to the field of primary immunodeficiencies: translating precise molecular and functional diagnosis to therapy</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Allergy and Clinical Immunology. In Practice
ISSN
2213-2198
e-ISSN
2213-2201
Volume of the periodical
10
Issue of the periodical within the volume
7
Country of publishing house
US - UNITED STATES
Number of pages
12
Pages from-to
1725-1736
UT code for WoS article
000878638000005
EID of the result in the Scopus database
2-s2.0-85129430688