Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients Mustafa Yavuz Köker, MD, PhD, Yıldız Camcıoğlu,

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Presentation transcript:

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients Mustafa Yavuz Köker, MD, PhD, Yıldız Camcıoğlu, MD, Karin van Leeuwen, BSc, Sara Şebnem Kılıç, MD, Işıl Barlan, MD, Mustafa Yılmaz, MD, Ayşe Metin, MD, PhD, Martin de Boer, BSc, Hüseyin Avcılar, MD, PhD, Türkan Patıroğlu, MD, Alişan Yıldıran, MD, Olcay Yeğin, MD, İlhan Tezcan, MD, PhD, Özden Sanal, MD, Dirk Roos, PhD Journal of Allergy and Clinical Immunology Volume 132, Issue 5, Pages 1156-1163.e5 (November 2013) DOI: 10.1016/j.jaci.2013.05.039 Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 DHR stimulation indices of neutrophils with PMA in CGD subgroups. Patients with SIs of 1.5 or less (n = 67) and patients with SIs of 3 or greater (n = 22) are shown. The oxidase activity in p22phox and p67phox deficiency is as low as in gp91phox deficiency, except in patients with residual oxidase activity, which have missense mutations in p22phox, p.(Gly24Arg), p.(Ala124Val), p.(Ala125Thr) and in p67phox, p.(Ala202Val) (Table E3). Journal of Allergy and Clinical Immunology 2013 132, 1156-1163.e5DOI: (10.1016/j.jaci.2013.05.039) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Mean age at diagnosis in CGD subtypes in relation to SIs. Cases with SIs of 1.5 or less (oxidase-null) have a lower mean age at laboratory diagnosis (3.3 years) than cases with SIs of 3 or greater (oxidase-residual; 7.1 years, P < .001, Table II). XL, X linked. Journal of Allergy and Clinical Immunology 2013 132, 1156-1163.e5DOI: (10.1016/j.jaci.2013.05.039) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 Number of patients with CGD and the age at laboratory diagnosis in relation to residual oxidase activity. The age at laboratory diagnosis was grouped into 1 or less, 1 to 5 or less, 5 to 10 or less, and greater than 10 years. The percentage of oxidase-null patients (n = 55 [82%]) given a diagnosis at 5 years of age or earlier was higher than that of oxidase-residual patients (n = 12 [55%]). Journal of Allergy and Clinical Immunology 2013 132, 1156-1163.e5DOI: (10.1016/j.jaci.2013.05.039) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 4 Kaplan-Meier graphs showing the survival rate of patients with CGD. Survival curves after diagnosis of CGD (from upper left to lower right) for the entire cohort of patients, for patients with X-linked and AR disease, for patients with or without residual NADPH oxidase activity, and for all CGD subtypes are shown. There was a difference between groups with or without residual NADPH oxidase activity (P = .026). Journal of Allergy and Clinical Immunology 2013 132, 1156-1163.e5DOI: (10.1016/j.jaci.2013.05.039) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions