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Immunodeficiency in Bloom’s Syndrome

Overview of attention for article published in Journal of Clinical Immunology, November 2017
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Title
Immunodeficiency in Bloom’s Syndrome
Published in
Journal of Clinical Immunology, November 2017
DOI 10.1007/s10875-017-0454-y
Pubmed ID
Authors

Schoenaker, Michiel H. D., Henriet, Stefanie S., Zonderland, Jip, van Deuren, Marcel, Pan-Hammarström, Qiang, Posthumus-van Sluijs, Sandra J., Pico-Knijnenburg, Ingrid, Weemaes, Corry M. R., IJspeert, Hanna

Abstract

Bloom's syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B cells. Since BLM is involved in DNA repair, we aimed to study if BLM deficiency affects T and B cell development and especially somatic hypermutation (SHM) and class switch recombination (CSR) processes. Clinical data of six BS patients was collected, and immunoglobulin serum levels were measured at different time points. In addition, we performed immune phenotyping of the B and T cells and analyzed the SHM and CSR in detail by analyzing IGHA and IGHG transcripts using next-generation sequencing. The serum immunoglobulin levels were relatively low, and patients had an increased number of infections. The absolute number of T, B, and NK cells were low but still in the normal range. Remarkably, all BS patients studied had a high percentage (20-80%) of CD4+ and CD8+ effector memory T cells. The process of SHM seems normal; however, the Ig subclass distribution was not normal, since the BS patients had more IGHG1 and IGHG3 transcripts. In conclusion, BS patients have low number of lymphocytes, but the immunodeficiency seems relatively mild since they have no severe or opportunistic infections. Most changes in the B cell development were seen in the CSR process; however, further studies are necessary to elucidate the exact role of BLM in CSR.

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Geographical breakdown

Country Count As %
Unknown 1 100%

Demographic breakdown

Readers by professional status Count As %
Professor > Associate Professor 1 100%
Readers by discipline Count As %
Unspecified 1 100%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 November 2017.
All research outputs
#7,473,449
of 8,617,605 outputs
Outputs from Journal of Clinical Immunology
#412
of 598 outputs
Outputs of similar age
#107,324
of 132,843 outputs
Outputs of similar age from Journal of Clinical Immunology
#8
of 10 outputs
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