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Microsporidia are a group of obligate intracellular fungi that were initially classified as protists but were later reclassified based on phylogenetic, molecular, and structural evidence linking them to the Chytridiomycota. These unicellular, non-motile organisms are highly specialized parasites that infect a wide range of animal hosts, including humans. They have evolved extensive genomic and metabolic reductions, making them highly dependent on their hosts for survival.Morphology and Genomic...
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Nocardia in inborn errors in immunity.

Syuna Salgaonkar1, Vaishnavi V Iyengar1, Akshaya Chougule1

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Nocardiosis infections can signal rare immune deficiencies beyond chronic granulomatous disease (CGD). Early identification of these inborn errors of immunity (IEI) is crucial for timely and effective treatment of Nocardia infections.

Keywords:
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Area of Science:

  • Infectious Diseases
  • Immunology
  • Genetics

Background:

  • Nocardiosis is a bacterial infection caused by Nocardia species.
  • Chronic granulomatous disease (CGD) is the most common inborn error of immunity (IEI) linked to nocardiosis.
  • This case series explores nocardiosis in patients with IEIs other than CGD.

Purpose of the Study:

  • To highlight cases of nocardiosis associated with various inborn errors of immunity (IEI).
  • To emphasize the importance of investigating IEI beyond CGD in patients with nocardiosis.
  • To underscore the need for comprehensive diagnostic approaches in immunocompromised patients.

Main Methods:

  • Case series presentation of five patients with nocardiosis and diagnosed IEI.
  • Detailed clinical presentations, diagnostic workups, and microbiological findings.
  • Utilized imaging (MRI), laboratory tests (NBT/DHR, WES, NGS), and histopathology (biopsy).

Main Results:

  • Five patients presented with nocardiosis, diagnosed with IEIs including IL12RB1 deficiency, DOCK8 deficiency, and Goods syndrome.
  • Clinical manifestations included seizures, abscesses (brain, splenic, cerebellar), pyopneumothorax, and pneumonia.
  • Nocardia species were identified through cultures, biopsies, and various diagnostic tests.

Conclusions:

  • Nocardia isolation in any patient warrants investigation for underlying IEI, not limited to CGD.
  • Comprehensive and invasive diagnostic strategies are essential for identifying IEI in patients with nocardiosis.
  • Prompt diagnosis and appropriate treatment are critical for managing nocardiosis in individuals with IEI.