# Cerebral amebiasis due to Acanthamoeba sp. in a patient with complete gp91phox deficiency

**Authors:** Marie Roelens, Anna-Lena Neehus, Jérémie Rosain, Gislène Collobert, Nathalie Boddaert, Liana Carausu, Jacinta Bustamante

PMC · DOI: 10.70962/jhi.20250160 · 2026-03-10

## TL;DR

A patient with a genetic deficiency in gp91phox developed brain abscesses from Acanthamoeba, highlighting the need for immune system evaluation in such infections.

## Contribution

This case report highlights a rare connection between gp91phox deficiency and cerebral amebiasis, emphasizing the importance of immune evaluation in similar cases.

## Key findings

- A patient with complete gp91phox deficiency developed multiple cerebral abscesses caused by Acanthamoeba sp.
- Invasive parasitic infections can reveal underlying phagocytic defects, necessitating prompt immunological and genetic evaluation.

## Abstract

Rare variants in CYBB (encoding gp91phox) are responsible for chronic granulomatous disease. We report a patient affected by multiple cerebral abscesses caused by Acanthamoeba sp. and complete gp91phox deficiency. The respiratory burst evaluation is recommended in any child with a deep abscess.

A patient diagnosed with chronic granulomatous disease due to complete gp91phox deficiency developed multiple cerebral abscesses caused by Acanthamoeba species. This case highlights that invasive parasitic infections can reveal underlying phagocytic defects and underscores for prompt immunological and genetic evaluation in such situations.

## Linked entities

- **Genes:** CYBB (cytochrome b-245 beta chain) [NCBI Gene 1536]
- **Proteins:** CYBB (cytochrome b-245 beta chain)
- **Diseases:** chronic granulomatous disease (MONDO:0018305)
- **Species:** Acanthamoeba sp. (taxon 5756)

## Full-text entities

- **Genes:** CYBB (cytochrome b-245 beta chain) [NCBI Gene 1536] {aka AMCBX2, CGD, CGDX, GP91-1, GP91-PHOX, GP91PHOX}
- **Diseases:** abscess (MESH:D000038), Cerebral amebiasis (MESH:D000562), cerebral abscesses (MESH:D001922), chronic granulomatous disease (MESH:D006105), respiratory burst (MESH:D012131)
- **Species:** Homo sapiens (human, species) [taxon 9606], Acanthamoeba sp. (species) [taxon 5756]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12974230/full.md

---
Source: https://tomesphere.com/paper/PMC12974230