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Immunogenetics associated with severe coccidioidomycosis.

Amy P Hsu1,2, Agnieszka Korzeniowska1, Cynthia C Aguilar1

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Individuals with disseminated coccidioidomycosis (DCM) show impaired beta-glucan sensing and response, affecting TNF-alpha and hydrogen peroxide production. Genetic variants in CLEC7A and PLCG2 are linked to increased risk of this severe fungal infection.

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Area of Science:

  • Immunology
  • Mycology
  • Genetics

Background:

  • Disseminated coccidioidomycosis (DCM) is a severe fungal infection caused by Coccidioides.
  • While many are infected, only a small percentage develop disseminated disease, prompting investigation into host susceptibility factors.

Purpose of the Study:

  • To identify genetic and molecular factors contributing to the dissemination of coccidioidomycosis.
  • To understand why certain individuals develop severe forms of the disease.

Main Methods:

  • Whole-exome sequencing was performed on patients with DCM.
  • Analysis of beta-glucan sensing pathways, including TNF-alpha and hydrogen peroxide (H2O2) production.
  • Genetic variants in STAT3, CLEC7A, PLCG2, DUOX1, and DUOXA1 were assessed in discovery and validation cohorts.

Main Results:

  • Haploinsufficient STAT3 mutations were found in 2 of 67 patients.
  • Defects in beta-glucan sensing and response were observed in 34 of 67 patients.
  • Damaging variants in CLEC7A and PLCG2, including CLEC7A Y238* and PLCG2 R268W, were overrepresented in DCM patients, correlating with impaired TNF-alpha production.
  • Heterozygous DUOX1 or DUOXA1 variants impairing H2O2 production were also overrepresented.

Conclusions:

  • Patients with DCM exhibit impaired beta-glucan recognition and cellular response pathways.
  • Genetic variations affecting TNF-alpha and H2O2 production are associated with the development of disseminated coccidioidomycosis.
  • These findings highlight the role of innate immune defects in susceptibility to severe fungal infections.