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Card9 Deficiency With Allergic Bronchopulmonary Aspergillosis (Abpa)-Like Presentation: A Case Report Publisher



Fallahi M1 ; Mahdaviani SA1 ; Shafiei M2 ; Ghadimi S3 ; Rezaei N4 ; Klein C5 ; Strobel S6 ; Jamee M7
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Authors Affiliations
  1. 1. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Student Research Committee, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran
  3. 3. Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Dr. von Hauner Children's Hospital, Ludwig Maximilians, University Munich, Munich, Germany
  6. 6. Institute of Nutritional Medicine, School of Medicine, Technical University of Munich, Munich, Germany
  7. 7. Laboratory for Pediatric Immunology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, Netherlands

Source: Oxford Medical Case Reports Published:2023


Abstract

Purpose: We present a patient with CARD9 deficiency and allergic bronchopulmonary aspergillosis (ABPA)-like presentation. Methods: Following medical history taking and routine laboratory investigations, an inborn error of immunity was suspected, and the responsible variant was identified using Whole Exome Sequencing and confirmed by Sanger sequencing. Results: A 14-year-old Iranian female presented with a history of chest pain, productive cough, dyspnea, malaise, and recurrent fever. Imaging by computed tomography (CT scan), chest X-ray (CXR), bronchoscopy, transbronchial lung biopsy (TBLB), and histopathology findings led to a diagnosis of ABPA-like presentation. The genetic study showed an autosomal recessive homozygous mutation in the CARD9 gene. Clinical remission was achieved following the administration of voriconazole, which was continued as prophylaxis. Conclusions: This is the first-time report of a patient with inherited CARD9 deficiency and ABPA-like presentation due to Aspergillus Terrus. This study paves the way to elucidate immunological mechanisms underlying CARD9 deficiency and aspergillosis. © 2023 The Author(s). Published by Oxford University Press.
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