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- W4313372034 abstract "Abstract A new mutation (PTPN6Ala455Thr) was recently discovered in a family in which many members developed a severe, early and panacinar form of pulmonary emphysema. The mutation was found to be located in the PTPN6 gene, encoding a tyrosine phosphatase known as SHP-1. SHP-1 regulates immunological signaling pathways, such as those involved in B cells maturation and activation. To characterize the impact of the ptpn6Ala457Thr mutation in a mouse model on subpopulations of B lymphocytes and on their response to immunization. Proportions of B1a et B2 cells were analyzed in the lungs and spleens of 4-month old mice carrying the ptpn6Ala457Thr mutation by flow cytometry. Serum immunoglobulin levels were assessed. Another group of mice were immunized with a T cells-independent antigen (NP-Ficoll, 50ug i.p.). Plasma was collected at different timepoints after immunization and NP-specific antibodies were measured by ELISA (IgG1, IgG3, IgM and IgA). Mice carrying the ptpn6Ala457Thr mutation mice had a higher proportion of B1a cells and a lower proportion of B2 cells in the spleen and in the lungs. Total IgG and IgM levels in the serum were higher in ptpn6Ala457Thr mice compared to wild-type animals. Following immunization with NP-Ficoll, ptpn6Ala457Thr mice displayed levels of NP-specific IgG3 and IgM similar to those observed in wild-type mice. However, ptpn6Ala457Thr mice had lower levels of NP-specific IgG1 antibodies compared to the wild-type group. SHP-1 seems to be important for B cell differentiation and functions, as the mutation led to significant changes in B cell subpopulations. It seems that SHP-1 plays an important role in the immune response to immunization. The full scope of the immunological effects of this mutation requires further study." @default.
- W4313372034 created "2023-01-06" @default.
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- W4313372034 date "2020-05-01" @default.
- W4313372034 modified "2023-09-23" @default.
- W4313372034 title "Characterization of immune anomalies caused by the <i>ptpn6</i>Ala457Thr mutation associated with a specific form of pulmonary emphysema" @default.
- W4313372034 doi "https://doi.org/10.4049/jimmunol.204.supp.154.10" @default.
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