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

Immunoglobulin class-switch recombination (CSR) and somatic hypermutations (SHMs) are prerequisites for antibody and immunoglobulin receptor maturation and adaptive immune diversity. The mismatch repair (MMR) machinery, consisting of homologs of MutSα, MutLα, and MutSβ (MSH2/MSH6, MLH1/PMS2, and MSH...

Deskribapen osoa

Gorde:
Egile Nagusiak: Victoria K. Tesch, Hanna IJspeert, Andrea Raicht, Daniel Rueda, Nerea Dominguez-Pinilla, Luis M. Allende, Chrystelle Colas, Thorsten Rosenbaum, Denisa Ilencikova, Hagit N. Baris, Michaela H. M. Nathrath, Manon Suerink, Danuta Januszkiewicz-Lewandowska, Iman Ragab, Amedeo A. Azizi, Soeren S. Wenzel, Johannes Zschocke, Wolfgang Schwinger, Matthias Kloor, Claudia Blattmann, Laurence Brugieres, Mirjam van der Burg, Katharina Wimmer, Markus G. Seidel
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2018-07-01
Saila:Frontiers in Immunology
Gaiak:
primary immunodeficiency
hyper-IgM syndrome
DNA repair defect
mismatch repair
somatic hypermutation
class-switch recombination
Sarrera elektronikoa:https://www.frontiersin.org/article/10.3389/fimmu.2018.01506/full
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