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Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report

Hossein Esmaeilzadeh1,2, Zahra Chavoshzadeh3, Seyed Hesamedin Nabavizadeh1,2

  • 1Division of Allergy and Clinical Immunology, Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

BMC Pediatrics
|June 5, 2023
PubMed
Abstract

Insights

Interferon-gamma receptor (IFNGR) deficiency, linked to IFNGR1 mutations, can lead to severe Aspergillosis. This case highlights the importance of considering IFNGR deficiency in patients with invasive fungal infections.

Area of Science:

  • Immunology
  • Genetics
  • Infectious Diseases

Background:

  • Interferon-gamma receptor (IFNGR) deficiency encompasses mutations in IFNGR1, IFNGR2, and STAT1, leading to immunodeficiency (27A/B).
  • Patients are susceptible to mycobacterial, viral (Herpesviridae), and bacterial (Listeria, Salmonella) infections.
  • SH2B3 mutations are linked to autoimmune and lymphoproliferative disorders.

Observation:

  • A 19-month-old infant presented with fever, high IgM/IgE, and pneumonia.
  • Diagnostic workup revealed Aspergillus fumigatus in whole blood and IFNGR1/SH2B3 mutations via Whole Exome Sequencing.
  • The patient also exhibited lymphadenopathy and pneumonic infiltration.

Findings:

  • The patient's genetic profile included mutations in IFNGR1 and SH2B3.
  • Whole Exome Sequencing identified the specific genetic mutations.
  • The infant presented with symptoms suggestive of a severe infection.

Implications:

  • Systemic Aspergillosis can manifest in patients with interferon-gamma receptor one deficiency.
  • This immunodeficiency should be considered in the clinical evaluation of patients with invasive fungal infections.
  • Early diagnosis and management of IFNGR deficiency are crucial for preventing severe opportunistic infections.
Keywords:
AspergillosisIFNGR1DSH2B3

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