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Immunodeficiency in Bloom's Syndrome.

Michiel H D Schoenaker¹, Stefanie S Henriet¹, Jip Zonderland²

¹Department of Pediatric Infectious Diseases and Immunology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Journal of Clinical Immunology

|November 4, 2017

Summary

Bloom's syndrome (BS), caused by BLM gene mutations, impacts DNA repair and affects T and B cell development. While somatic hypermutation appears normal, class switch recombination shows abnormalities in BS patients, leading to mild immunodeficiency.

Keywords:

DNA repair Immunodeficiency bloom’s syndrome class switch recombination lymphocyte somatic hypermutations

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Area of Science:

Immunology
Genetics
Molecular Biology

Background:

Bloom's syndrome (BS) is an autosomal recessive disorder linked to mutations in the BLM gene, which encodes a DNA repair helicase.
DNA repair is crucial for T and B lymphocyte development and function, particularly for immunoglobulin gene diversification processes.

Purpose of the Study:

To investigate the impact of BLM deficiency on T and B cell development in Bloom's syndrome patients.
To analyze the effects of BLM deficiency on somatic hypermutation (SHM) and class switch recombination (CSR) in immunoglobulin genes.

Main Methods:

Collected clinical data from six BS patients.
Measured serum immunoglobulin levels and performed immune phenotyping of T and B cells.
Analyzed IGHA and IGHG transcripts using next-generation sequencing to assess SHM and CSR.

Main Results:

BS patients exhibited low serum immunoglobulin levels and increased infection rates.
While lymphocyte counts were low-normal, a high percentage of CD4+ and CD8+ effector memory T cells were observed.
Somatic hypermutation appeared unaffected, but immunoglobulin subclass distribution was altered, with increased IGHG1 and IGHG3 transcripts.

Conclusions:

Bloom's syndrome patients present with mild immunodeficiency, characterized by altered B cell development, particularly in CSR.
The exact role of BLM in CSR requires further investigation.