Related Experiment Video

Updated: Mar 13, 2026

Concomitant Isolation of Primary Astrocytes and Microglia for Protozoa Parasite Infection
09:34

Concomitant Isolation of Primary Astrocytes and Microglia for Protozoa Parasite Infection

Published on: March 18, 2020

8.2K

Cerebral amebiasis due to Acanthamoeba sp. in a patient with complete gp91 phox deficiency

Marie Roelens1,2,3, Anna-Lena Neehus2,4,5, Jérémie Rosain1,2,4,6

  • 1Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

Journal of Human Immunity
|March 12, 2026
PubMed

Insights

Rare CYBB gene variants cause chronic granulomatous disease. A patient with cerebral abscesses and complete gp91 phox deficiency highlights the need for respiratory burst testing in children with deep abscesses.

Area of Science:

  • Immunology
  • Genetics
  • Infectious Diseases

Background:

  • Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder.
  • CGD is caused by mutations in genes encoding components of the NADPH oxidase complex, primarily CYBB (gp91phox).
  • CYBB variants lead to impaired respiratory burst function in phagocytes.

Purpose of the Study:

  • To report a case of severe cerebral Acanthamoeba infection in a patient with complete gp91phox deficiency.
  • To highlight the diagnostic challenges and importance of respiratory burst evaluation in pediatric deep-seated abscesses.

Main Methods:

  • Case report of a pediatric patient.
  • Clinical presentation and diagnostic workup.
  • Microbiological identification of Acanthamoeba sp.

Main Results:

  • The patient presented with multiple cerebral abscesses.
  • Complete deficiency of gp91phox (CYBB) was confirmed.
  • Acanthamoeba sp. was identified as the causative pathogen.

Conclusions:

  • Complete gp91phox deficiency can predispose individuals to severe opportunistic infections, such as Acanthamoeba encephalitis.
  • Respiratory burst evaluation is crucial in the diagnostic workup of children presenting with deep abscesses, irrespective of suspected etiology.
  • Early diagnosis and management of CGD are essential to prevent severe infections.

More Related Videos

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.6K
Selection of Plasmodium falciparum Parasites for Cytoadhesion to Human Brain Endothelial Cells10:09

Selection of Plasmodium falciparum Parasites for Cytoadhesion to Human Brain Endothelial Cells

Published on: January 3, 2012

19.6K

Related Concept Videos

Diversity of Protists II01:27

Diversity of Protists II

Alveolates are a group of organisms recognized by the presence of alveoli, which are cytoplasmic sacs located beneath the cell membrane. While their function remains uncertain, alveoli may help regulate water balance by controlling how much water enters and leaves the cell. In dinoflagellates, these structures may serve as armor plates. There are three major types of alveolates: ciliates, which move using cilia; dinoflagellates, which use flagella for movement; and apicomplexans, which are...
1.8K
Fungal Phylum Microsporidia01:28

Fungal Phylum Microsporidia

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...
667