Buzard, Kaitlyn L, DO

Israel, Howard, MD

Patel, Jaimin H, DO

English

Lehigh Valley Health Network: LVHN Scholarly Works

Lehigh Valley Health NetworkLVHN Scholarly WorksDepartment of MedicinePresentation of COPA Syndrome in an Adult: ANewly Described Primary ImmunodeficiencyJaimin H. Patel DOLehigh Valley Health Network, Jaimin.Patel@lvhn.orgKaitlyn L. Buzard DOLehigh Valley Health Network, Kaitlyn.Buzard@lvhn.orgHoward Israel MDLehigh Valley Health Network, Howard.Israel@lvhn.orgFollow this and additional works at: https://scholarlyworks.lvhn.org/medicinePart of the Internal Medicine CommonsThis Poster is brought to you for free and open access by LVHN Scholarly Works. It has been accepted for inclusion in LVHN Scholarly Works by anauthorized administrator. For more information, please contact LibraryServices@lvhn.org.Published In/Presented AtPatel, J. Buzard, K. Israel, H. (2018, November 1). Presentation of COPA Syndrome in an Adult: A Newly Described PrimaryImmunodeficiency. Poster Presented at: (ACAAI) American College of Allergy, Asthma & Immunology, Seattle, WA.© 2018 Lehigh Valley Health NetworkPresentation of COPA Syndrome in an Adult:  A Newly Described Primary Immunodeficiency Jaimin H. Patel, DO,1 Kaitlyn L. Buzard, DO,1 Howard A. Israel, MD21Department of Internal Medicine, 2Department of Allergy; Lehigh Valley Health Network, Allentown, Pa.BACKGROUND•  COPA syndrome is a newly discovered hereditary immune dysregulatory primary immunodeficiency which is autosomal dominant with variable penetrance.1,2•  The mutated gene, COPA, encodes the alpha subunit of the coatomer complex-I which is involved in the transit of proteins between the Golgi complex and endoplasmic reticulum.1–3•  Most commonly presents before the age of 5 with a female predominance.1,3•  Early symptoms include shortness of breath, cough, and joint pain.1,2CLINICAL FEATURES PREVALENCEPulmonary Hemorrhage High Interstitial Lung Disease Moderate Renal Disease Very High Arthritis High Skin Disease Rare REFERENCES 1  Vece, T. J., Watkin, L. B., Nicholas, S. K., Canter, D., Braun, M. C., Guillerman, R. P., …Orange, J. S. (2016). Copa Syndrome: A Novel Autosomal Dominant Immune Dysregulatory Disease. Journal of Clinical Immunology, 36(4), 377-387. doi:10.1007/s10875-016-0271-82  Tsui, J. L., Estrada, O. A., Deng, Z., Wang, K. M., Law, C. S., Elicker, B. M.,…Shum, A. K. (2018). Analysis of pulmonary features and treatment approaches in the COPA syndrome. ERJ Open Research,4(2), 00017-2018. doi:10.1183/23120541.00017-20183  Watkin, L. B., Jessen, B., Wiszniewski, W., Vece, T. J., Jan, M., Sha, Y.,…Shum, A. K. (2015). COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nature Genetics,47(6), 654-660. doi:10.1038/ng.3279CASE DESCRIPTION55-year-old female with a past medical history of chronic cavitary aspergillosis status post three lung resections, pulmonary hemorrhage, undifferentiated connective tissue disease, adrenal insufficiency, and recurrent squamous cell carcinoma presented for evaluation of immunodeficiency due to unusual and recurrent pulmonary infections (aspergillosis and mycoplasma). 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.RESULTS•  Negative: Rheumatoid factor (RF), cyclic citrullinated peptide (CCP), anti-nuclear antibodies, anti-myeloperoxidase (MPO) and anti-proteinase 3 (PR3) antibodies.•  Buccal Biospy: Negative for Sjogren’s Disease.•  CT Chest: multiple thick-walled cystic lesions consistent with aspergillosis and scattered ground glass opacities  bilaterally. •  COPA Gene: Positive in July 2016.DISCUSSION•  Our case highlights the findings of recurrent cavitary aspergillosis and recurrent skin cancers in COPA syndrome. •  COPA syndrome may be more common than other primary immunodeficiencies due to being autosomal dominant.1•  While COPA syndrome should always been considered  in young patients with pulmonary disease, it is also important to recognize different presentations and consider undiagnosed COPA syndrome in adults with suspected immunodeficiency.2•  When suspected, patients should be tested for COPA gene mutation to allow for further development of diagnostic criteria and treatment regimens. 

Presentation of COPA Syndrome in an Adult: A Newly Described Primary Immunodeficiency

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Presentation of COPA Syndrome in an Adult: A Newly Described Primary Immunodeficiency

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