Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency Vincent Barlogis, MD, Claire Galambrun, MD, Hervé Chambost, MD, Sylvie.

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Presentation transcript:

Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency Vincent Barlogis, MD, Claire Galambrun, MD, Hervé Chambost, MD, Sylvie Lamoureux-Toth, MD, Philippe Petit, MD, Jean-Louis Stephan, MD, Gérard Michel, MD, Alain Fischer, MD, PhD, Capucine Picard, MD, PhD Journal of Allergy and Clinical Immunology Volume 128, Issue 2, Pages 420-422.e2 (August 2011) DOI: 10.1016/j.jaci.2011.03.025 Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

A, Patient pedigree. B, Ultrasound Doppler showing the thrombus in celiac artery. C, Magnetic resonance imaging showing stenosis and aneurismal dilatation of the celiac artery (white arrow) and thrombosis of the superior mesenteric artery. D, Analysis of copy number variations was performed by using Whole-Genome Cytogenetics 2.7M DNA chips (Affymetrix, Santa Clara, Calif). The results of the 9p24.3 region were visualized by using the Chromosome Analysis Suite (version 1.0.1; Affymetrix). A large homozygous deletion of 400 kb encompassing the totality of the DOCK8 gene and the 5′ part of the KANK1 gene (green arrow) was identified in the patient. Journal of Allergy and Clinical Immunology 2011 128, 420-422.e2DOI: (10.1016/j.jaci.2011.03.025) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

A, Patient pedigree. B, Ultrasound Doppler showing the thrombus in celiac artery. C, Magnetic resonance imaging showing stenosis and aneurismal dilatation of the celiac artery (white arrow) and thrombosis of the superior mesenteric artery. D, Analysis of copy number variations was performed by using Whole-Genome Cytogenetics 2.7M DNA chips (Affymetrix, Santa Clara, Calif). The results of the 9p24.3 region were visualized by using the Chromosome Analysis Suite (version 1.0.1; Affymetrix). A large homozygous deletion of 400 kb encompassing the totality of the DOCK8 gene and the 5′ part of the KANK1 gene (green arrow) was identified in the patient. Journal of Allergy and Clinical Immunology 2011 128, 420-422.e2DOI: (10.1016/j.jaci.2011.03.025) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions