Usefulness of next-generation sequencing for laboratory diagnosis of rickettsiosis.

Rickettsiosis includes a diversity of culture-negative non-specific systemic infections. Laboratory diagnosis of rickettsiosis is often not easy. In this 12-month study, six patients with a variety of rickettsia infections of the spotted fever group, typhus group and scrub typhus were diagnosed dire...

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Main Authors: Fanfan Xing, Chaowen Deng, Jinyue Huang, Yanfei Yuan, Zhendong Luo, Simon K F Lo, Susanna K P Lau, Patrick C Y Woo
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-10-01
Series:PLoS Neglected Tropical Diseases
Online Access:https://doi.org/10.1371/journal.pntd.0012546
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author Fanfan Xing
Chaowen Deng
Jinyue Huang
Yanfei Yuan
Zhendong Luo
Simon K F Lo
Susanna K P Lau
Patrick C Y Woo
author_facet Fanfan Xing
Chaowen Deng
Jinyue Huang
Yanfei Yuan
Zhendong Luo
Simon K F Lo
Susanna K P Lau
Patrick C Y Woo
author_sort Fanfan Xing
collection DOAJ
description Rickettsiosis includes a diversity of culture-negative non-specific systemic infections. Laboratory diagnosis of rickettsiosis is often not easy. In this 12-month study, six patients with a variety of rickettsia infections of the spotted fever group, typhus group and scrub typhus were diagnosed directly or indirectly by metagenomic next-generation sequencing (mNGS). The patient with Japanese spotted fever was rapidly made when mNGS analysis of the patient's blood revealed Rickettsia japonica sequences. For the two patients with Rickettsia felis chest infections, the bacterium was detected in the bronchoalveolar lavage of one case and lung biopsy of the other. Both patients had underlying malignancies, carcinoma of the breast and carcinoma of the lung respectively, and were on chemotherapy with immunosuppressive effect. For the remaining three patients who presented over a period of 13 weeks, all had fever, headache and the typical eschar. They also had increased serum transaminases and responded promptly to doxycycline. However, the Weil-Felix test results of all three patients were negative. Since we considered the three cases typical of rickettsiosis, we submitted their serum samples for mNGS analysis. Results showed that Orientia tsutsugamushi sequences were present in the serum of one case. In view of the positive mNGS results, we repeated the Weil-Felix test for the residual sera of all three patients and it revealed that those of the other two cases showed OX-19 titers of 1:640 and 1:160 respectively, inferring that these two patients probably had rickettsiosis of the typhus group. As for the patient positive for O. tsutsugamushi sequences, we also detected IgM for O. tsutsugamushi in the serum, which double confirmed that it was a case of scrub typhus. mNGS is an important molecular tool and can complement serology for laboratory diagnosis of rickettsiosis.
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spelling doaj-art-57bfe5f5e1c84850a1ed99fa163cfd9e2025-08-20T03:05:50ZengPublic Library of Science (PLoS)PLoS Neglected Tropical Diseases1935-27271935-27352024-10-011810e001254610.1371/journal.pntd.0012546Usefulness of next-generation sequencing for laboratory diagnosis of rickettsiosis.Fanfan XingChaowen DengJinyue HuangYanfei YuanZhendong LuoSimon K F LoSusanna K P LauPatrick C Y WooRickettsiosis includes a diversity of culture-negative non-specific systemic infections. Laboratory diagnosis of rickettsiosis is often not easy. In this 12-month study, six patients with a variety of rickettsia infections of the spotted fever group, typhus group and scrub typhus were diagnosed directly or indirectly by metagenomic next-generation sequencing (mNGS). The patient with Japanese spotted fever was rapidly made when mNGS analysis of the patient's blood revealed Rickettsia japonica sequences. For the two patients with Rickettsia felis chest infections, the bacterium was detected in the bronchoalveolar lavage of one case and lung biopsy of the other. Both patients had underlying malignancies, carcinoma of the breast and carcinoma of the lung respectively, and were on chemotherapy with immunosuppressive effect. For the remaining three patients who presented over a period of 13 weeks, all had fever, headache and the typical eschar. They also had increased serum transaminases and responded promptly to doxycycline. However, the Weil-Felix test results of all three patients were negative. Since we considered the three cases typical of rickettsiosis, we submitted their serum samples for mNGS analysis. Results showed that Orientia tsutsugamushi sequences were present in the serum of one case. In view of the positive mNGS results, we repeated the Weil-Felix test for the residual sera of all three patients and it revealed that those of the other two cases showed OX-19 titers of 1:640 and 1:160 respectively, inferring that these two patients probably had rickettsiosis of the typhus group. As for the patient positive for O. tsutsugamushi sequences, we also detected IgM for O. tsutsugamushi in the serum, which double confirmed that it was a case of scrub typhus. mNGS is an important molecular tool and can complement serology for laboratory diagnosis of rickettsiosis.https://doi.org/10.1371/journal.pntd.0012546
spellingShingle Fanfan Xing
Chaowen Deng
Jinyue Huang
Yanfei Yuan
Zhendong Luo
Simon K F Lo
Susanna K P Lau
Patrick C Y Woo
Usefulness of next-generation sequencing for laboratory diagnosis of rickettsiosis.
PLoS Neglected Tropical Diseases
title Usefulness of next-generation sequencing for laboratory diagnosis of rickettsiosis.
title_full Usefulness of next-generation sequencing for laboratory diagnosis of rickettsiosis.
title_fullStr Usefulness of next-generation sequencing for laboratory diagnosis of rickettsiosis.
title_full_unstemmed Usefulness of next-generation sequencing for laboratory diagnosis of rickettsiosis.
title_short Usefulness of next-generation sequencing for laboratory diagnosis of rickettsiosis.
title_sort usefulness of next generation sequencing for laboratory diagnosis of rickettsiosis
url https://doi.org/10.1371/journal.pntd.0012546
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