Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity Gertjan.

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Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity Gertjan J. Driessen, MD, Hanna IJspeert, MSc, Corry M.R. Weemaes, MD, PhD, Ásgeir Haraldsson, MD, PhD, Margreet Trip, MD, Adilia Warris, MD, PhD, Michiel van der Flier, MD, PhD, Nico Wulffraat, MD, PhD, Mijke M.M. Verhagen, MD, PhD, Malcolm A. Taylor, MD, PhD, Menno C. van Zelm, PhD, Jacques J.M. van Dongen, MD, PhD, Marcel van Deuren, MD, PhD, Mirjam van der Burg, PhD Journal of Allergy and Clinical Immunology Volume 131, Issue 5, Pages 1367-1375.e9 (May 2013) DOI: 10.1016/j.jaci.2013.01.053 Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Naive and CD21lowCD38low defects in patients with AT. A, Absolute numbers of blood transitional B cells (CD19+CD27−CD24highCD38high) and naive mature B cells (CD19+CD27−CD24dimCD38dim) in 3 categories of AT. B, Naive B-cell replication history, as measured with the κ-deleting recombination excision circle assay. C, Proportions of CD21lowCD38low B cells. Data are compared with those of healthy control subjects by using the Mann-Whitney test. Individual data points are displayed, and bars indicate medians. Significant values are indicated as follows: ∗∗∗∗P < .0001, ∗∗∗P < .0005, and ∗∗P < .005. Journal of Allergy and Clinical Immunology 2013 131, 1367-1375.e9DOI: (10.1016/j.jaci.2013.01.053) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Memory B-cell subset distribution in patients with AT. A, Memory B-cell subsets according to Berkowska et al.16 B, Absolute numbers of memory B-cell subsets in 3 categories of AT. C, Relative distributions of memory B-cell subsets. Data are compared with those of healthy control subjects by using the Mann-Whitney test. Significant values are indicated as follows: ∗∗P < .005 and ∗P < .05. Journal of Allergy and Clinical Immunology 2013 131, 1367-1375.e9DOI: (10.1016/j.jaci.2013.01.053) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 T-cell subset distribution in patients with AT. A and B, Absolute numbers of CD4+ (Fig 3, A) and CD8+ (Fig 3, B) T-cell subsets in 3 categories of AT. C, Relative distributions of T-cell subsets. D, TRECs in sorted T cells: naive T cells (CD45RA+CD27+ cells), memory T cells (CD45RA−CD27+ cells), and effector T cells (CD45RA+/−CD27− cells). Significant values are indicated as follows: ∗∗∗P < .0005, ∗∗P < .005, and ∗P < .05. Journal of Allergy and Clinical Immunology 2013 131, 1367-1375.e9DOI: (10.1016/j.jaci.2013.01.053) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 4 IgA and IgG class-switching in IGH transcripts of patients with AT. A, Schematic representation of the constant regions in the IGH locus. B, Frequencies of IGHG2, IGHG4, and IGHA2 transcripts in patients with classical AT plus hypogammaglobulinemia, patients with classical AT, and patients with variant AT were compared with those in control subjects (for details, see the text). The number of analyzed transcripts is depicted in the center of each plot. Journal of Allergy and Clinical Immunology 2013 131, 1367-1375.e9DOI: (10.1016/j.jaci.2013.01.053) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Frequency of somatic hypermutation (SHM) in IGHA and IGHG transcripts. A, SHM in IGHGA and IGHG transcripts in patients with classical and variant AT. Children and adults were compared with age-matched control subjects. Data are compared with the Mann-Whitney test. B, Distribution of replacement mutation substitutions in rearranged IGHV genes in patients with classical AT, patients with variant AT, and control subjects. CDR, Complementarity determining region; FR, framework region. Journal of Allergy and Clinical Immunology 2013 131, 1367-1375.e9DOI: (10.1016/j.jaci.2013.01.053) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions