Is it possible to control recurrent abdominal cramp with antifungal drugs? A rare case with abdominal cramp caused by CARD9 deficiency

Abstract

Introduction: Fungal infections infect billions of people annually around the world, and invasive types with a high mortality rate are commonly associated with primary immunodeficiencies (PIDs), such as autosomal dominant hyper-immunoglobulin (Ig)E syndrome (AD-HIES), or deficiency of caspase recruitment domain-containing protein 9 (CARD9). Patients with CARD9, which is also associated with invasive fungal infection (such as meningitis) and deep dermatophytosis. The symptoms of CARD9 deficiency usu-ally start at early childhood, and it is essential to diagnose and treat the disease appropriately to minimize infections and prevent mortality. Since CARD9 deficiency is a newly-introduced disease, investigation of the different aspects of this disease has been the focus of several studies. Case Presentation: We present a case with recurrent fungal infections and abdominal mass, and the result of his gene sequence indicates a CARD9 deficiency. Interestingly, the patient had no serious complications until the age of 14; however, the CARD9 deficiency was a hereditary disorder. Surprisingly, the size of the abdominal mass in the patient was controlled by antifungal treatment. Conclusions: The present study indicates that a deficiency of CARD9 can be considered one of the possible causes of abdominal mass that can guide physicians toward proper diagnosis and treatment.