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.
Next-generation sequencing
Pneumocystis jiroveci
hyper-IgM immunodeficiency syndrome
Journal
Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners
ISSN: 1532-656X
Titre abrégé: J Pediatr Health Care
Pays: United States
ID NLM: 8709735
Informations de publication
Date de publication:
29 Nov 2023
29 Nov 2023
Historique:
received:
14
08
2023
revised:
05
09
2023
accepted:
26
09
2023
pubmed:
30
11
2023
medline:
30
11
2023
entrez:
30
11
2023
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 38032574
pii: S0891-5245(23)00278-X
doi: 10.1016/j.pedhc.2023.09.009
pii:
doi:
Types de publication
Journal Article
Langues
eng
Informations de copyright
Published by Elsevier Inc.
Déclaration de conflit d'intérêts
CONFLICTS OF INTEREST None to report.