INTRODUCTION
COPA syndrome is a rare cause of interstitial lung disease (ILD) that
was initially identified in 2015. It is described as a monogenic
autoimmune lung and joint disorder caused by alteration of the COPA gene
located in the 1q23.2 chromosome.1,2,3 This mutation
results in ineffective retrograde transport from the Golgi complex to
the Endoplasmic Reticulum causing increase in ER stress and ineffective
autophagy3,4. Symptoms typically present prior to 5
years of age and are characterized by arthritis, renal disease, and
diffuse interstitial lung disease with pulmonary hemorrhage. We present
a unique case of a 2-month-old Hispanic female found to have ILD
secondary to COPA gene mutation without frank pulmonary hemorrhage or
joint involvement.