First case of homozygous C1 inhibitor deficiency

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Presentation transcript:

First case of homozygous C1 inhibitor deficiency Alvaro Blanch, PhD, Olga Roche, PhD, Ignacio Urrutia, MD, Pedro Gamboa, MD, Gumersindo Fontán, MD, PhD, Margarita López- Trascasa, PhD Journal of Allergy and Clinical Immunology Volume 118, Issue 6, Pages 1330-1335 (December 2006) DOI: 10.1016/j.jaci.2006.07.035 Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions

Fig 1 Genealogic tree of the studied pedigree. Homozygous progeny are marked with a solid color, heterozygous progeny are marked with a semisolid color, and unaffected progeny are marked with no color. The asterisk indicates that patients I.2 and II.1 were first cousins. Journal of Allergy and Clinical Immunology 2006 118, 1330-1335DOI: (10.1016/j.jaci.2006.07.035) Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions

Fig 2 Western blots of C1r. Proenzyme and activated C1r forms can be distinguished by their different apparent molecular weights. Plasma from different family members, unrelated patients with HAE and AAE, and unaffected individuals (NHP) were analyzed. The asterisks indicate patients homozygous for the c.1576T>G mutation. Journal of Allergy and Clinical Immunology 2006 118, 1330-1335DOI: (10.1016/j.jaci.2006.07.035) Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions

Fig 3 Western blot of C1-Inh. Native and cleaved C1-Inh have different molecular weights of 105 and 96 kd, respectively, as visualized by using SDS-PAGE. Asterisks indicate patients homozygous for the c.1576T>G mutation. NHP, Normal human plasma. Journal of Allergy and Clinical Immunology 2006 118, 1330-1335DOI: (10.1016/j.jaci.2006.07.035) Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions