Persistent Unexplained Transaminitis in COPA Syndrome
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LETTER TO EDITOR
Persistent Unexplained Transaminitis in COPA Syndrome Silpa S. Thaivalappil 1 & Andrea S. Garrod 2 & Stephen M. Borowitz 3 & Levi B. Watkin 4 & Monica G. Lawrence 5 Received: 14 May 2020 / Accepted: 20 July 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
To the Editor: COPA syndrome is a recently described monogenic immunodysregulatory syndrome. The COPA gene encodes for the α subunit of coatomer complex I (COPI), which is expressed in all cell types and is involved in trafficking from the Golgi complex to the endoplasmic reticulum (ER) [1]. The most common clinical features of COPA syndrome are pulmonary hemorrhage, interstitial lung disease, arthritis, glomerular disease, and autoantibody development [2, 3]. Atypical features of COPA syndrome identified thus far include extrapulmonary cysts in the liver and kidney, renal and neuroendocrine malignancies, autoimmune neurological disorders such as neuromyelitis optica, and infections, such as meningitis [4]. We present a case of a 2-year-old male with COPA syndrome manifesting as lymphocytic interstitial pneumonitis, peripheral blood B cell lymphocytosis, mediastinal lymphadenopathy and persistent, unexplained transaminitis. Our patient initially presented at age 9 months with persistent nasal congestion, nonproductive cough, post-tussive emesis, and poor weight gain. He had no other past medical history. Family history was notable for myotonia congenita in the father and paternal aunt, and hypophosphatasia in the maternal grandfather and maternal siblings. Physical exam was remarkable for prominent digital clubbing, a dry cough, and tachypnea with * Monica G. Lawrence [email protected] 1
Department of Pediatrics, University of Virginia, Charlottesville, VA, USA
2
Department of Pediatrics, Division of Respiratory Medicine, Allergy, Immunology and Sleep, University of Virginia, Charlottesville, VA, USA
3
Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, University of Virginia, Charlottesville, VA, USA
4
William T. Shearer Center for Human Immunobiology, Baylor College of Medicine, Houston, TX, USA
5
Department of Medicine, Division of Asthma, Allergy and Immunology, University of Virginia, Charlottesville, VA, USA
mild retractions. Initial work-up demonstrated leukocytosis with B cell predominance and presumed reactive thrombocytosis, along with elevated transaminases. Highresolution CT of the chest showed extensive lower lobe predominant bilateral parenchymal changes with mediastinal and hilar adenopathy. Open lung biopsy demonstrated interstitial pneumonitis and lymphocytic alveolitis with mild lymphoid hyperplasia (Fig. 1A). Immunohistochemistry of the lung biopsy for CD3 and CD20 showed a B cell predominance (not shown). Additional findings included reduced CD8+ memory and NKT cells, pan-hypergammaglobulinemia, elevated soluble interleukin 2 receptor alpha (sIL2Rα), and low-titer positive anti-proteinase 3 antibody and rheumatoid factor but no other markers of autoimmune disea
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