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Article

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency

2 Jul 2018

Abstract excerpt

Immunoglobulin class-switch recombination (CSR) and somatic hypermutations (SHM) are prerequisites for antibody and immunoglobulin receptor maturation and adaptive immune diversity. The mismatch repair (MMR) machinery, consisting of homologues of MutS, MutL, and MutS (MSH2/MSH6, MLH1/PMS2, and MSH2/MSH3, respectively) and other proteins, is involved in CSR, primarily acting as a backup for nonhomologous...

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PMID: 30013564
DOI: 10.3389/fimmu.2018.01506

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