Escaping the endemic tuberculosis trap: Hyper-IgE syndrome mimicking abdominal tuberculosis - A case report and literature review.

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare primary immunodeficiency that can mimic tuberculosis (TB) in endemic regions. We present a 14-year-old male with a 7-year history of recurrent abdominal pain, fever, and weight loss, empirically treated for presumed abdominal TB without success. Clinical evaluation revealed growth retardation, characteristic facies, retained primary teeth, and recurrent mucocutaneous infections. Investigations showed peripheral eosinophilia and profoundly elevated serum IgE (13,800 IU/mL). Genetic testing confirmed a heterozygous STAT3 mutation. Clinicians must consider AD-HIES in treatment-refractory TB cases, particularly when characteristic developmental or cutaneous anomalies are present to prevent significant diagnostic delays and unnecessary therapeutic toxicity.