Fatal Breakthrough Invasive Fungal Infection due to Aspergillus flavus in a Pediatric Patient with Adenosine
Işıl Ezel Taşkın Karaça1, Seval Özen1, Turan Bayhan2
1Department of Pediatric Infections and Diseases, University of Health Science Ankara Bilkent City Hospital, Ankara, Türkiye.
Abstract:
Adenosine deaminase 2 (ADA-2) deficiency is a rare autoinflammatory and immunodeficiency disorder that predisposes affected individuals to severe infections. We report the case of a 13-year-old boy with a homozygous CECR1 (c.11104 del) mutation who developed fatal breakthrough invasive aspergillosis caused by Aspergillus flavus. Despite combination antifungal therapy, multiple surgical interventions, and granulocyte transfusions, the infection progressed, leading to pulmonary dissemination. Fungal culture and polymerase chain reaction (PCR) confirmed A. flavus. This case underscores the aggressive course of fungal infections in ADA-2 deficiency and the limited efficacy of standard treatment strategies in the setting of profound immunosuppression and vascular invasion. Early recognition and novel therapeutic approaches are urgently needed to improve outcomes in this vulnerable population.
Insights
Adenosine deaminase 2 (ADA-2) deficiency, a rare immune disorder, led to a fatal invasive Aspergillus flavus infection in a young boy. Standard treatments were ineffective, highlighting the need for new therapies for this condition.
Area of Science:
- Immunology
- Infectious Diseases
- Genetics
Background:
- Adenosine deaminase 2 (ADA-2) deficiency is a rare autoinflammatory and immunodeficiency disorder.
- Individuals with ADA-2 deficiency are highly susceptible to severe infections.
Related Concept Videos
09:21Inhibition of Aspergillus flavus Growth and Aflatoxin Production in Transgenic Maize Expressing the α-amylase Inhibitor from Lablab purpureus L.
09:42Infection of Zebrafish Larvae with Aspergillus Spores for Analysis of Host-Pathogen Interactions
05:58Testing Acetylcholine Followed by Adenosine for Invasive Diagnosis of Coronary Vasomotor Disorders
02:58A zWEDGI Technique to Visualize Fungal Pathogen-Infected Zebrafish Larvae
09:52Histological Quantification to Determine Lung Fungal Burden in Experimental Aspergillosis
04:17Determining the Serum Stability of Human Adenosine Deaminase 1 Enzyme