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ATYPICAL PRESENTATION OF COPA MUTATION AS CAUSE OF INTERSTITIAL LUNG DISEASE IN A YOUNG INFANT
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  • Carolina Quintana,
  • Katarzyna Saar ,
  • Heather Tory ,
  • Tregony Simoneau
Carolina Quintana
Baylor College of Medicine
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Katarzyna Saar
University of Connecticut Health Center
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Heather Tory
University of Connecticut Health Center
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Tregony Simoneau
Harvard Medical School
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Abstract

A 2-month-old infant Hispanic female with failure to thrive and choking episodes was admitted with progressive worsening of respiratory effort, paroxysmal coughing, and hypoxemia. She required prolonged mechanical ventilation and post-pyloric feeding for concern of aspiration with no marked improvement of chest radiogram or CT findings. Lung biopsy performed and remarkable for lymphocytic infiltration but without a definite diagnosis. Genetic testing identified a unique heterozygous mutation in the COPA gene. She was started on rituximab and azathioprine initially and has weaned off oxygen and the ventilator. We report a unique case of interstitial lung disease secondary to COPA gene mutation without frank pulmonary hemorrhage, renal, or joint involvement upon initial presentation.