Hyper-IgE Syndrome Misdiagnosed as Abdominal Tuberculosis for Seven Years, Chennai

Key finding

> The clue was not a new symptom — it was the accumulation of features tuberculosis never explains, finally examined together instead of in isolation. Investigations showed peripheral eosinophilia and profoundly elevated serum IgE (13,800 IU/mL). Genetic testing confirmed a heterozygous STAT3 mutation, establishing a diagnosis of autosomal dominant Hyper-IgE Syndrome (AD-HIES) — a rare primary immunodeficiency that had been mimicking treatment-refractory abdominal tuberculosis for years. The authors explicitly frame this as an "endemic tuberculosis trap": in a high-TB-burden country, atypical or treatment-refractory presentations of common infectious syndromes should prompt consideration of an underlying primary immunodeficiency, particularly when accompanied by characteristic developmental or cutaneous anomalies.

Framework connections: The Immune Priming

← All highlights · The full case file, with extracted biomarkers and clinical questions, opens with registered access.