Michael H. Land, MD, Maria I. Garcia-Lloret, MD, Michael S

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Presentation transcript:

Long-term results of bone marrow transplantation in complete DiGeorge syndrome Michael H. Land, MD, Maria I. Garcia-Lloret, MD, Michael S. Borzy, MD, P. Nagesh Rao, PhD, Najib Aziz, MD, Sean A. McGhee, MD, Karin Chen, MD, Jack Gorski, PhD, E. Richard Stiehm, MD Journal of Allergy and Clinical Immunology Volume 120, Issue 4, Pages 908-915 (October 2007) DOI: 10.1016/j.jaci.2007.08.048 Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 ROMA results from DNA isolated from whole blood showing the typically deleted 22q11.2 region in patient 1. Journal of Allergy and Clinical Immunology 2007 120, 908-915DOI: (10.1016/j.jaci.2007.08.048) Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 FISH analysis for sex-chromosome mismatch identification and the 22q11.2 deletion in patient 2. A and B, Analysis of engraftment by sex chromosome mismatch. A, Interphase nuclei with chromosome X (green) and Y-specific (red) fluorescence probes. Recipient cells are XX (2 green dots), whereas donor cells are XY (1 red, 1 green). B, A male metaphase cell (donor) positive for the XY probe (arrows). C and D, 22q11.2 deletion as detected by FISH with the TUPLE1 probe. C, Interphase nuclei with the TUPLE1 gene locus labeled in red and an internal control locus aryl sulfatase A (ARSA) labeled green showing normal (donor's origin; 2 red and 2 green signals) and abnormal (recipient's origin; TUPLE 1 deleted, 1 red, 2 green signals) cells. D, A female metaphase cell positive for TUPLE1 deletion in the abnormal chromosome 22 (red arrow). Journal of Allergy and Clinical Immunology 2007 120, 908-915DOI: (10.1016/j.jaci.2007.08.048) Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 Spectratyping of patient 1. Example of spectratype analysis of TCRβ CDR3 lengths from PBMCs obtained from a control individual and patient 1. The V-β family analyzed is identified in every pair of panels. Arrows point to skew in the distribution. Journal of Allergy and Clinical Immunology 2007 120, 908-915DOI: (10.1016/j.jaci.2007.08.048) Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions