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Disseminated Nannizziopsis Infection in an Adolescent With a STAT1 Mutation

Zachary M Most1, Tiffany Lieu2, Laura Filkins3

  • 1University of Texas Southwestern Medical Center, Department of Pediatrics, Division of Infectious Disease, Dallas, Texas, USA.

Open Forum Infectious Diseases
|October 2, 2020
PubMed

Insights

A rare fungal infection caused by Nannizziopsis spp. in an adolescent led to bone and brain infections. Genetic sequencing identified the mold, and a STAT1 mutation diagnosis led to successful treatment.

Area of Science:

  • Mycology
  • Infectious Diseases
  • Human Genetics

Background:

  • Nannizziopsis species are typically reptile pathogens.
  • Infections in humans are rare, particularly invasive ones.

Purpose of the Study:

  • To report a rare case of invasive Nannizziopsis infection in an adolescent.
  • To highlight the diagnostic utility of genetic sequencing for fungal identification.
  • To describe the successful treatment of a STAT1-deficient patient.

Main Methods:

  • Case report of an adolescent patient with failure to thrive.
  • Isolation and identification of mold from bone and brain lesions using universal genetic sequencing.
  • Genetic analysis to identify STAT1 mutation.

Main Results:

  • Nannizziopsis spp. was identified as the causative agent of cuboid bone osteomyelitis and brain abscesses.
  • The patient was diagnosed with a Signal Transducer and Activator of Transcription 1 (STAT1) mutation.
  • Successful treatment outcome was achieved.

Conclusions:

  • Nannizziopsis spp. can cause severe invasive infections in immunocompromised humans.
  • Genetic sequencing is crucial for identifying unusual fungal pathogens.
  • STAT1 mutations predispose individuals to Nannizziopsis infections and can be treated successfully.
Keywords:
NannizziopsisSTAT1fungal infectionsimmunocompromised hostvoriconazole

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