Secondary pulmonary alveolar proteinosis in GATA-2 deficiency (MonoMAC syndrome)

BMJ Case Rep. 2020 Nov 30;13(11):e238290. doi: 10.1136/bcr-2020-238290.

Abstract

We present here a case of a 29-year-old woman with a medical history of GATA-2 deficiency, who was under treatment for Mycobacterium avium intracellulare pneumonia. She presented with worsening dyspnoea with cough and fever. It was initially thought she had pneumonia but she was later diagnosed with Pulmonary Alveolar Proteinosis (PAP).

Keywords: bronchitis; interstitial lung disease; lung function; pneumonia (respiratory medicine); pulmonary hypertension.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bronchoalveolar Lavage
  • Bronchoalveolar Lavage Fluid / cytology
  • Bronchoalveolar Lavage Fluid / microbiology
  • Diagnosis, Differential
  • Dyspnea / etiology
  • Female
  • GATA2 Deficiency / complications*
  • Humans
  • Lung / diagnostic imaging
  • Lung / pathology
  • Mycobacterium avium Complex
  • Pneumonia, Bacterial / complications
  • Pneumonia, Bacterial / microbiology
  • Pulmonary Alveolar Proteinosis / diagnostic imaging
  • Pulmonary Alveolar Proteinosis / etiology*
  • Pulmonary Alveolar Proteinosis / therapy
  • Radiography, Thoracic
  • Respiratory Function Tests