PRESENTATION OF COPA SYNDROME IN AN ADULT: A NEWLY DESCRIBED PRIMARY IMMUNODEFICIENCY

Abstract

Introduction COPA syndrome is a newly discovered primary immunodeficiency syndrome which consists of interstitial lung disease, pulmonary hemorrhage, inflammatory arthritis and renal disease. The majority of patients present with symptoms before the age of 5. Emerging case reports defining presentations of this syndrome have been important in further characterizing this disease. Case Description 55-year-old female with a past medical history of chronic cavitary aspergillosis, pulmonary hemorrhage, undifferentiated connective disease, adrenal insufficiency, and recurrent squamous cell carcinoma presented to the NIH for evaluation of immunodeficiency. Physical exam was remarkable for a left forehead scar and nose lesion being worked up for squamous cell cancer. Her significant medications included posaconazole and previously voriconazole. Remarkable negative studies include buccal biopsies for Sjogren's, rheumatoid factor (RF), cyclic citrullinated peptide (CCP), anti-nuclear antibodies, anti-myeloperoxidase (MPO) and anti-proteinase 3 (PR3) antibodies. CT scan showed increased cavitation in left lung nodule. She tested positive for COPA gene in July 2016 after years of suspected immunodeficiency. Her recurrent skin cancers were initially considered to be secondary to voricozole but the persistence of recurrent skin cancers can be related to COPA syndrome. She has normal renal function while there is a higher prevalence of renal disease in COPA synrome. Currently, she is following at NIH with further investigative studies. Discussion Our case highlights the findings of recurrent cavitary aspergillosis and recurrent skin cancers in COPA syndrome. As more cases are being detected, it is important to recognize presentation and consider undiagnosed COPA syndrome in adults with suspected immunodeficiency.