DISCUSSION
COPA syndrome is a rare mutation of the coatomer associated protein
subunit alpha gene (COPα) causing adaptive immune dysregulation. The
cases in the literature describe ILD, pulmonary hemorrhage, arthritis,
and nephropathy. This autosomal dominant entity is likely presenting as
a de novo mutation in this young child as no other family members are
affected. The initial lack of pulmonary hemorrhage and arthritis, as
well as her age represent a novel presentation of the disease and speak
to the important contribution genetic testing has made in the diagnosis
of ILD. Current literature describes molecular mechanisms of the
syndrome however due to twenty-one case reports described,5, 7,8 clinical progression and
surveillance methods are not yet described. Inflammatory markers such as
ESR, C-reactive protein, complete blood count, ANA, ANCA, along with
imaging and bronchoscopy with lavage cell counts have been useful
markers of disease activity in this patient. However additional research
is needed to better define disease markers, treatment options, and
long-term prognosis.