I would like to share a challenging case for discussion. A 20-year-old female was brought by her mother (a medical doctor) with a history of recurrent infections since early childhood. During childhood, she developed right middle lobe collapse, for which a lobectomy was performed, yet respiratory infections continued afterward. Over time, the infections became progressively more frequent—initially every 3–6 months, then every few weeks, and now occurring almost every 10 days.
Her infectious history is significant for multidrug-resistant tuberculosis (treated last year), pulmonary aspergillosis, recurrent staphylococcal infections, and most recently Moraxella infection.
She also has associated ENT involvement with reduced hearing. Despite extensive investigations over many years, including normal immunoglobulin levels, no definitive diagnosis has yet been established.
The pattern of early-onset, severe, and unusual infections raises strong concern for an underlying primary immunodeficiency, particularly a defect in innate immunity (e.g., CGD or related disorders). I would appreciate insights from colleagues regarding further diagnostic strategies and management approaches in such a case.
— Team eMedz