Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Oxford medical case reports, 2023, Vol.2023 (10), p.omad103-omad103

Erscheinungsjahr

2023

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• PURPOSEWe present a patient with CARD9 deficiency and allergic bronchopulmonary aspergillosis (ABPA)-like presentation.METHODSFollowing 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.RESULTSA 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.CONCLUSIONSThis 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.