Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients - 30/10/13
, Yıldız Camcıoğlu, MD b, Karin van Leeuwen, BSc c, Sara Şebnem Kılıç, MD d, Işıl Barlan, MD e, Mustafa Yılmaz, MD f, Ayşe Metin, MD, PhD g, Martin de Boer, BSc c, Hüseyin Avcılar, MD, PhD h, Türkan Patıroğlu, MD i, Alişan Yıldıran, MD j, Olcay Yeğin, MD k, İlhan Tezcan, MD, PhD l, Özden Sanal, MD l, Dirk Roos, PhD cAbstract |
Background |
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytes resulting in impaired killing of bacteria and fungi. A mutation in one of the 4 genes encoding the components p22phox, p47phox, p67phox, and p40phox of the leukocyte nicotinamide dinucleotide phosphate reduced (NADPH) oxidase leads to autosomal recessive (AR) CGD. A mutation in the CYBB gene encoding gp91phox leads to X-linked recessive CGD.
Objective |
The aim of this study is to show the correlation between clinical, functional, and genetic data of patients with CGD from Turkey.
Methods |
We report here the results of 89 patients with CGD from 73 Turkish families in a multicenter study.
Results |
Most of the families (55%) have an AR genotype, and 38% have an X-linked genotype; patients from 5 families with a suspected AR genotype (7%) were not fully characterized. We compared patients with CGD according to the severity of NADPH oxidase deficiency of neutrophils. Patients with A220, A670 or X910 phenotypes with a stimulation index of 1.5 or less have early clinical presentation and younger age at diagnosis (mean, 3.2 years). However, in p47phox-deficient cases and in 5 other AR cases with high residual oxidase activity (stimulation index ≥ 3), later and less severe clinical presentation and older age at diagnosis (mean, 7.1 years) were found. Pulmonary involvement was the most common clinical feature, followed by lymphadenitis and abscesses.
Conclusion |
Later and less severe clinical presentation and older age at diagnosis are related to the residual NADPH oxidase activity of neutrophils and not to the mode of inheritance. CGD caused by A220 and A670 subtypes manifests as severe as the X910 subtype.
El texto completo de este artículo está disponible en PDF.Key words : Chronic granulomatous disease, dihydrorhodamine-1,2,3 assay, CYBB, CYBA, NCF1, NCF2, nicotinamide dinucleotide phosphate reduced oxidase, mean fluorescence intensity, stimulation index
Abbreviations used : AR, A22R, CGD, DHR, MFI, NADPH, NBT, phox, PMA, ROI, SI, X-CGD
Esquema
| Supported by TÜBİTAK (the Scientific and Technological Research Council of Turkey), project no. 110S252, and part of the E-Rare program of the European Union. |
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| Disclosure of potential conflict of interest: M. Y. Köker has received grants, support for travel to meetings for the study or other purposes, and travel/accommodation/meeting expenses from TÜBITAK. Y. Camcioğlu and A. Metin have received grants from TÜBITAK. D. Roos has received a grant from the E-Rare program of the European Union. The rest of the authors declare that they have no relevant conflicts of interest. |
Vol 132 - N° 5
P. 1156 - novembre 2013 Regresar al número
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