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

J Pediatr Health Care. 2024 May-Jun;38(3):420-423. doi: 10.1016/j.pedhc.2023.09.009. Epub 2023 Nov 29.

Abstract

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.

Keywords: Next-generation sequencing; Pneumocystis jiroveci; hyper-IgM immunodeficiency syndrome.

Publication types

  • Case Reports

MeSH terms

  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome, Type 1* / diagnosis
  • Infant
  • Male
  • Metagenomics / methods
  • Pneumocystis carinii* / genetics
  • Pneumocystis carinii* / isolation & purification
  • Pneumonia, Pneumocystis* / diagnosis
  • Pneumonia, Pneumocystis* / drug therapy
  • Trimethoprim, Sulfamethoxazole Drug Combination / therapeutic use

Substances

  • Trimethoprim, Sulfamethoxazole Drug Combination