Deleterious and Oncogenic Mutations in the IL7RA.
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ABSTRACT:
SUBMITTER: Campos LW
PROVIDER: S-EPMC6966522 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
Deleterious and Oncogenic Mutations in the <i>IL7RA</i>.
Campos Lívia Weijenborg LW Pissinato Leonardo Granato LG Yunes José Andrés JA
Cancers 20191205 12
Interleukin 7 (IL-7) is a critical cytokine that plays a fundamental role in B- and T-cell development and in acute lymphoblastic leukemia (ALL). Its receptor (IL7R) is a transmembrane heterodimer formed by the IL7Rα and the IL2Rγ chain (γc). The IL7R signals through the JAK/STAT pathway. Loss-of-function mutations and some polymorphisms of the IL7Rα were associated to immunodeficiency and inflammatory diseases, respectively. Gain-of-function mutations were described in T-cell ALL and in high ri ...[more]
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