First reported case of Omenn syndrome in a patient with reticular dysgenesis Lauren A. Henderson, MD, Francesco Frugoni, PhD, Gregory Hopkins, BS, Waleed.

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Presentation transcript:

First reported case of Omenn syndrome in a patient with reticular dysgenesis Lauren A. Henderson, MD, Francesco Frugoni, PhD, Gregory Hopkins, BS, Waleed Al-Herz, MD, Katja Weinacht, MD, Anne Marie Comeau, PhD, Francisco A. Bonilla, MD, PhD, Luigi D. Notarangelo, MD, Sung-Yun Pai, MD Journal of Allergy and Clinical Immunology Volume 131, Issue 4, Pages 1227-1230.e3 (April 2013) DOI: 10.1016/j.jaci.2012.07.045 Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Characteristics of the infant's presentation. A, Expression of AK2 protein detected in patient's PBMC and fibroblasts (Pt) compared with normal control (Ctrl). Expression of β-actin is shown as a loading control. B, Maternal engraftment was excluded by flow analysis of the noninherited HLA-A2 allele. C, T-lymphocyte receptor oligoclonality was demonstrated by skewed expression of TCRVβ families in the patient's CD3+CD4+ and CD3+CD8+ cells. Open circle, below normal; closed square, within normal range; open triangle, above normal. D, Disruption of mitochondrial membrane potential in CD3+ cells incubated with staurosporin and detected by using tetramethylrhodamine ethyl ester (TMRE) dye. Journal of Allergy and Clinical Immunology 2013 131, 1227-1230.e3DOI: (10.1016/j.jaci.2012.07.045) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Patient exhibited desquamative erythroderma. Journal of Allergy and Clinical Immunology 2013 131, 1227-1230.e3DOI: (10.1016/j.jaci.2012.07.045) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E2 Analysis using genomic DNA from fibroblasts and CD3+ lymphocytes demonstrating a missense mutation in AK2 (c.524 G>A, p.R175Q). Journal of Allergy and Clinical Immunology 2013 131, 1227-1230.e3DOI: (10.1016/j.jaci.2012.07.045) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions