Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation Almut Meyer-Bahlburg,

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Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation Almut Meyer-Bahlburg, MD, Ellen D. Renner, MD, Stacey Rylaarsdam, AS, Janine Reichenbach, MD, Lena F. Schimke, MD, Amy Marks, DO, Haig Tcheurekdjian, MD, Robert Hostoffer, DO, Archana Brahmandam, MS, Troy R. Torgerson, MD, PhD, Bernd H. Belohradsky, MD, David J. Rawlings, MD, Hans D. Ochs, MD Journal of Allergy and Clinical Immunology Volume 129, Issue 2, Pages 559-562.e2 (February 2012) DOI: 10.1016/j.jaci.2011.09.017 Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Composition of the B-cell compartment in patients with STAT3-HIES. A, B-cell subpopulations obtained from staining strategy I (see Fig E1, A). Patients with HIES were divided into adult (≥20 years, n = 12) and young (age, 2.5-15 years; n = 13) groups. n.s., Not significant. B, Memory B-cell subsets based on staining strategy II (see Fig E1, B). ∗P ≤ .05, ∗∗P ≤ .01, and ∗∗∗P ≤ .001. Journal of Allergy and Clinical Immunology 2012 129, 559-562.e2DOI: (10.1016/j.jaci.2011.09.017) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 BAFF levels and BAFF-R expression in patients with STAT3-HIES and specific antibody production to bacteriophage phiX174. A, BAFF-R expression by CD19+ B cells shown as mean fluorescence intensity (MFI). B, Plasma BAFF levels were determined by means of ELISA. ∗∗∗P ≤ .001. C, BAFF levels and BAFF-R expression in patients with HIES correlate negatively. D, Positive correlation between plasma BAFF levels and NIH HIES scores. E, Peak antibody titers expressed as the rate of phage inactivation (K value [Kv]) observed in 6 patients with STAT3-HIES after primary and secondary immunization with the neoantigen bacteriophage phiX174, which was injected twice 6 weeks apart. Kv was plotted on a log scale. Individual patients are identified by symbols. Solid lines present geometric means and 96% CIs measured in 57 healthy control subjects. F, The mean percentage of phage-specific IgG antibody determined 2 weeks after the second immunization as antibody resistant to treatment with 2-mercaptoethanol, as indicated for each patient with HIES (percentage of 57 healthy control subjects: 50.6% ± 34.2% 2 SDs). Journal of Allergy and Clinical Immunology 2012 129, 559-562.e2DOI: (10.1016/j.jaci.2011.09.017) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Example of B-cell staining: 1 healthy control subject and 1 representative patient with STAT3-HIES (patient no. 15.2). A, Staining strategy I: immature, mature, and memory B cells (CD19+) were identified based on CD38 and CD24 expression. Memory B cells were further differentiated into unswitched (IgM+) and switched (IgM−) memory B cells. B, Staining strategy II: CD27+ memory B cells were gated into IgG+, IgA+, or IgG−IgA− memory B cells. C, Expression of BAFF-R by CD19+ B cells. Journal of Allergy and Clinical Immunology 2012 129, 559-562.e2DOI: (10.1016/j.jaci.2011.09.017) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions