Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort

被引：10

作者：

Baris, Hatice Ezgi ^{[1
]}

Ogulur, Ismail ^{[2
,3
]}

Akcam, Bengu ^{[2
,3
]}

Kiykim, Ayca ^{[4
]}

Karagoz, Dilek ^{[5
]}

Saraymen, Berkay ^{[6
]}

Akgun, Gamze ^{[2
,3
]}

Eltan, Sevgi Bilgic ^{[2
,3
]}

Aydemir, Sezin ^{[4
]}

Akidagi, Zeynep ^{[7
,8
]}

Bentli, Esma ^{[9
]}

Nain, Ercan ^{[2
,3
]}

Kasap, Nurhan ^{[2
,3
]}

Baser, Dilek ^{[2
,3
]}

Altintas, Derya Ufuk ^{[5
]}

Camcioglu, Yildiz ^{[4
]}

Yesil, Gozde ^{[10
]}

Ozen, Ahmet ^{[2
,3
]}

Koker, Mustafa Yavuz ^{[7
]}

Karakoc-Aydiner, Elif ^{[2
,3
]}

Baris, Safa ^{[2
,3
]}

机构：

[1] Marmara Univ, Fac Med, Dept Pediat, Istanbul, Turkey

[2] Marmara Univ, Fac Med, Pediat Allergy Immunol, Istanbul, Turkey

[3] Istanbul Jeffrey Modell Diagnost & Res Ctr Primar, Istanbul, Turkey

[4] Istanbul Cerrahpasa Univ, Fac Med, Div Pediat Allergy Immunol, Istanbul, Turkey

[5] Cukurova Univ, Fac Med, Div Pediat Allergy Immunol, Adana, Turkey

[6] Erciyes Univ, ERNAM Nanotechnol Res & Applicat Ctr, Kayseri, Turkey

[7] Erciyes Univ, Fac Med, Dept Immunol, Kayseri, Turkey

[8] Kapadokya Univ, Vocat Coll, Nevsehir, Turkey

[9] Erciyes Univ, Genome & Stem Cell Ctr, Kayseri, Turkey

[10] Bezmialem Vakif Gureba Univ, Fac Med, Dept Genet, Istanbul, Turkey

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE | 2020年 / 8卷 / 10期

关键词：

Chronic granulomatous disease; NADPH oxidase; flow cytometry; Dihydrorhodamine; gp91; p22; p47; p67; MUTATIONS; DIHYDRORHODAMINE; OXIDASE; ASSAY; FAMILIES; CARRIERS; TURKEY; BURST;

D O I：

10.1016/j.jaip.2020.07.030

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

BACKGROUND: Chronic granulomatous disease (CGD) is characterized by defective microbial killing due to mutations affecting subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. Definitive genetic identification of disease subtypes may be delayed or not readily available. OBJECTIVE: Sought to investigate the role of intracellular staining of NADPH oxidase enzyme subunits in predicting the respective genetic defects in patients with CGD and carriers. METHODS: Thirty-four patients with genetically inherited CGD, including 12 patients with X-linked CGD (gp91(phagocyte oxidase (phox)) deficiency due to cytochrome b-245, beta polypeptide [CYBB] mutations) and 22 patients with autosomal-recessive CGD (p22(phox), p47(phox), and p67(phox) deficiency due to cytochrome b-245, alpha polypeptide [CYBA], neutrophil cytosolic factor 1 [NCF1] and NCF2 mutations, respectively) were recruited from different immunology centers and followed up prospectively. Dihydrorhodamine testing and NADPH oxidase subunit expression in white blood cells were determined by flow cytometry. RESULTS: gp91(phox) and p22(phox) defects, which result in simultaneous loss of both proteins due to their complex formation, were differentiated only by comparative analysis of patients' and mothers' intracellular staining. p47(phox) and p67(phox) protein expression was almost undetectable in patients compared with carrier mothers and healthy controls. The expression values of the respective subunits were found to be significantly higher in all controls as compared with carrier mothers, which in turn were higher than those of patients. CONCLUSIONS: Analysis of NADPH oxidase enzyme subunits by flow cytometry in patients and carriers is useful in the rapid prediction of the genetic defect of patients with CGD, thus guiding targeted sequencing and aiding in their early diagnosis. (C) 2020 American Academy of Allergy, Asthma & Immunology

引用

页码：3525 / +

页数：11

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