February 2023 Pulmonary Case of the Month: SCID-ing to a Diagnosis

Abstract

History of Present Illness A 40-year-old man was referred for management of respiratory symptoms of cough, sputum production and shortness of breath. He has a history of respiratory infections that began in early childhood. Sputum cultures were positive for Pseudomonas. He is currently using oxygen at night and occasionally during the day. Past Medical History, Family History and Social History • Childhood diagnosis of asthma. • Multiple colds and pneumonias in the past. • No family history of a similar problem. • He has never smoked. • Denies any occupational exposure. Physical Examination • Vital Signs: O2 Sat 88% on RA • Chest: diminished breath sounds, no wheezes • Heart: regular rate and rhythm without murmur • Extremities: mild clubbing present, no edema Pulmonary Function Testing Pulmonary function testing (PFTs) was performed with results as below (Figure 1). Thoracic CT Scan A thoracic CT was performed (Figure 2). Which of the following is/are true? 1. PFTs show severe obstructive …

Keywords

• bronchiectasis
• scid
• x-linked severe combined immunodeficiency
• severe combined immunodeficiency
• granulomatous and lymphocytic interstitial lung disease
• glild
• pulmonary function testing
• ct scan
• t cells
• nk cells