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

Published byRaimo Heikkilä Modified over 5 years ago

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Presentation on theme: "First reported case of Omenn syndrome in a patient with reticular dysgenesis  Lauren A. Henderson, MD, Francesco Frugoni, PhD, Gregory Hopkins, BS, Waleed."— Presentation transcript:

1 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 e3 (April 2013) DOI: /j.jaci Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 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  , e3DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig E1 Patient exhibited desquamative erythroderma.
Journal of Allergy and Clinical Immunology  , e3DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 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  , e3DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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