CARD9 deficiency with allergic bronchopulmonary aspergillosis (ABPA)-like presentation: a case report

Mazdak Fallahi; Seyed Alireza Mahdaviani; Mohammadreza Shafiei; Soodeh Ghadimi; Nima Rezaei; Christoph Klein; Sophie Strobel; Mahnaz Jamee

doi:10.1093/omcr/omad103

CARD9 deficiency with allergic bronchopulmonary aspergillosis (ABPA)-like presentation: a case report

Oxf Med Case Reports. 2023 Oct 23;2023(10):omad103. doi: 10.1093/omcr/omad103. eCollection 2023 Oct.

Authors

Mazdak Fallahi¹, Seyed Alireza Mahdaviani¹, Mohammadreza Shafiei², Soodeh Ghadimi³, Nima Rezaei⁴, Christoph Klein⁵, Sophie Strobel⁶, Mahnaz Jamee⁷

Affiliations

¹ Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
² Student Research Committee, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.
³ Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
⁴ Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
⁵ Dr. von Hauner Children's Hospital, Ludwig Maximilians, University Munich, Munich, Germany.
⁶ Institute of Nutritional Medicine, School of Medicine, Technical University of Munich, Munich, Germany.
⁷ Laboratory for Pediatric Immunology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, Netherlands.

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.

Publication types

Case Reports