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IKAROS is a transcription factor that forms a heterogeneic diogenesome that regulates the development and function of lymphocytes.
mutations that affect the DNA binding domain at the end of IKAROS N, causing immunodeficiency in a way that is insufficient or overtly negative.
in a recent article in the journal Blood, Germline IKAROS dimerization haploinsufficicity causes hematologic cytopenias and malignancies, the researchers outlined four ICARS embryo hybrid mutations that affected ICAROS's N-end dimpolymer functional domain through a single dose deficiency, from four unrelated families.
most patients showed blood diseases, including blood cell reduction (plate plate plate reduction, anemia, neutral granulocyte reduction)/Evans syndrome and malignant tumors (T-ALL, Burkitt lymphoma).
these mutations have some or complete defects in the formation of iso-heterogeneic dismersions, but do not affect the function of wild alleometans.
(protein stability of each mutant IKAROS) In addition, these mutations alter key mechanisms of IKAROS gene regulation, including ubibinization, protein stability, and recruitment of nuclear small-weight composition and deacetylase complexes;
these C-end disaturization mutations are mainly related to blood diseases, which are shown to be insufficient, incomplete clinical manifestations, and different in their mechanism of action from the allied gene variants previously reported.
, the dijurification mutation increased ICAROS-related diseases and showed the genotype-ideotype correlation.
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