Deleterious and oncogenic mutations in the IL7RA

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 IL7R alpha and the IL2R gamma chain (gamma c). The IL7R signals through the JAK/STAT pathway. Loss-of-function mutations and some polymorphisms of the IL7R alpha were associated to immunodeficiency and inflammatory diseases, respectively. Gain-of-function mutations were described in T-cell ALL and in high risk precursor B-cell ALL. Most confirmed loss-of-function mutations occur in the extracellular part of the IL7R alpha while oncogenic mutations are exclusively found in the extracellular juxtamembrane (EJM) or transmembrane regions. Oncogenic mutations promote either IL7R alpha/IL7R alpha homodimerization and constitutive signaling, or increased affinity to gamma c or IL-7. This work presents a review on IL7R alpha polymorphisms/mutations and attempts to present a classification based on their structural consequences and resulting biological activity1112CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP305896/2013-0; 301596/2017-4sem informação2/12802-1; 14/20015-

Oncogenic basic amino acid insertions at the extracellular juxtamembrane region of IL7Rα cause receptor hypersensitivity

sem informação1331112591263CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP305896/2013-0; 301596/2017-4sem informação12/12802-1; 14/20015-5; 10/16947-9; 13/08293-7Fundacao de Amparo a Pesquisa do Estado de Sao PauloFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [12/12802-1, 14/20015-5, 10/16947-9, 13/08293-7]; National Health and Medical Research Council of AustraliaNational Health and Medical Research Council of Australia [APP1084797]; Fundacao de Amparo a Pesquisa do Estado de Sao PauloFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP); Coordenacao de Aperfeicoamento de Pessoal de Nivel SuperiorCAPES; Brazilian National Counsel of Technological and Scientific Development (CNPq)National Council for Scientific and Technological Development (CNPq) [305896/2013-0, 301596/2017-4