Is It Possible to Control Recurrent Abdominal Cramp with Antifungal Drugs? A Rare Case with Abdominal Cramp Caused by CARD9 Deficiency

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 usually 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.

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.

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.