Common variable immunodeficiency as the initial presentation of dyskeratosis congenita Eric J. Allenspach, MD, PhD, Cristian Bellodi, PhD, David Jeong,

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Presentation transcript:

Common variable immunodeficiency as the initial presentation of dyskeratosis congenita Eric J. Allenspach, MD, PhD, Cristian Bellodi, PhD, David Jeong, MD, Noam Kopmar, BS, Tomoka Nakamura, BS, Hans D. Ochs, MD, Davide Ruggero, PhD, Suzanne Skoda-Smith, MD, Akiko Shimamura, MD, PhD, Troy R. Torgerson, MD, PhD Journal of Allergy and Clinical Immunology Volume 132, Issue 1, Pages 223-226 (July 2013) DOI: 10.1016/j.jaci.2012.11.052 Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 A, Response to bacteriophage Φ174 immunization. Primary and secondary immunizations were administered at 0 and 6 weeks. The shaded area represents the geometric mean ± 2 SD for 54 healthy control subjects. The patient's antibody responses (X-X) are significantly less than 2 SDs of the control cohort. No immunoglobulin class-switching was observed (data not shown). B, Telomere shortening in total lymphocytes. Average telomere length in the patient's total lymphocytes (solid circle) is markedly less than the first percentile of that observed in healthy subjects, as measured by using flow in situ hybridization (n = 2; courtesy of Repeat Diagnostics).7 C and D, Reduced dyskerin expression in the patient's cells. Fig 1, C, Western blot of dyskerin and β-actin protein expression in lymphoblast cell lines from a healthy control subject and the patient. Fig 1, D, Densitometric analysis of relative dyskerin expression (dyskerin/β-actin) ± SEM in 2 independent experiments is shown. Statistical analysis was performed with the unpaired t test: *P < .05. Journal of Allergy and Clinical Immunology 2013 132, 223-226DOI: (10.1016/j.jaci.2012.11.052) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions