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    To assess how B cell phenotype analysis correlates with antigen responses in patients with class switch recombination defects (CSRD) we quantified memory B cells by flow-cytometry and immunized CSRD patients with the neoantigen bacteriophage phiX174 (phage). CSRD patients showed uniformly absent or markedly reduced switched memory B cells (IgM-IgD-CD27+). CD40L patients had reduced CD27+ memory B cells (both non-switched and switched). In NEMO patients, results varied depending on the IKKγ gene variant. Three of four AID patients had normal percentages of CD27+ memory B cells while CD27+IgM-IgD- switched memory B cells were markedly reduced in all AID patients. Antibody response to phage was remarkably decreased with lack of memory amplification and class-switching in immunized CD40L, UNG deficient, and NEMO patients. Distinct B-cell phenotype pattern correlated with abnormal antibody responses to a T-cell dependent neoantigen, representing a powerful tool to identify CSRD patients. Copyright © 2020 Elsevier Inc. All rights reserved.


    Ellen D Renner, Carolin E Krätz, Jordan S Orange, Beate Hagl, Stacey Rylaarsdam, Gundula Notheis, Anne Durandy, Troy R Torgerson, Hans D Ochs. Class Switch Recombination Defects: impact on B cell maturation and antibody responses. Clinical immunology (Orlando, Fla.). 2021 Jan;222:108638

    PMID: 33276124

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