Use of Metagenomic Next-Generation Sequencing in the Identification of Pneumocystis Jiroveci Pneumonia in a Previously Healthy Infant Diagnosed With X-Linked Hyper-IgM Syndrome
Published by Elsevier Inc..
This case describes a four-month-old male who was admitted to the pediatric intensive care unit for acute respiratory failure in the setting of a co-infection requiring increased ventilatory support. Immunodeficiency workup demonstrated poor vaccination response and low immunoglobulin titers. mNGS via Karius® test was positive for Pneumocystis jiroveci (PJP), Parvovirus, and Bocavirus. The patient was successfully treated with trimethoprim-sulfamethoxazole and prednisone. Genetic workup via Invitae panel confirmed that the patient had X-linked Hyper-IgM Syndrome. Use of mNGS can help with early identification of pathogens that conventional testing does not detect, even in patients not already identified as immunocompromised.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2023 |
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| Enthalten in: |
Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners - (2023) vom: 29. Nov. |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Dennis, Jocelyn [VerfasserIn] |
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| Links: |
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| Themen: |
Hyper-IgM immunodeficiency syndrome |
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| Anmerkungen: |
Date Revised 03.12.2023 published: Print-Electronic Citation Status Publisher |
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| doi: |
10.1016/j.pedhc.2023.09.009 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM365237108 |
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| 520 | |a This case describes a four-month-old male who was admitted to the pediatric intensive care unit for acute respiratory failure in the setting of a co-infection requiring increased ventilatory support. Immunodeficiency workup demonstrated poor vaccination response and low immunoglobulin titers. mNGS via Karius® test was positive for Pneumocystis jiroveci (PJP), Parvovirus, and Bocavirus. The patient was successfully treated with trimethoprim-sulfamethoxazole and prednisone. Genetic workup via Invitae panel confirmed that the patient had X-linked Hyper-IgM Syndrome. Use of mNGS can help with early identification of pathogens that conventional testing does not detect, even in patients not already identified as immunocompromised | ||
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