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

Wednesday, February 1, 2023 at 8:00AM
Rick Robbins, M.D. in CT scan, GLILD, NK cells, SCID, T cells, X-linked severe combined immunodeficiency, bronchiectasis, granulomatous and lymphocytic interstitial lung disease, pulmonary function testing, severe combined immunodeficiency

Lewis J. Wesselius MD

Pulmonary Department

Mayo Clinic Arizona

Scottsdale, AZ USA

 

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).

Figure 1. Pulmonary function testing.

Thoracic CT Scan

A thoracic CT was performed (Figure 2).

Figure 2. Representative images from the thoracic CT in lung windows (A-C) and soft tissue windows (D). To view Figure 2 in a separate enlarged window click here

Which of the following is/are true? (Click on the correct answer to be directed to the second of six pages)

1. PFTs show severe obstructive disease
2. The thoracic CT shows a normal mediastinum
3. Bronchiectasis is shown in the CT scan lung windows
4. 1 and 3
5. All of the above

Article originally appeared on Southwest Journal of Pulmonary, Critical Care and Sleep (https://www.swjpcc.com/).