Posted on Authorea 22 Jun 2020 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.159285431.12330244 — This a preprint and has not been peer reviewed. Data may be preliminary. aelrbd lrsrcue u ocnenfrIDadlc fciia mrvmn ihps pyloric post with improvement clinical of lack and ILD for normal concern noted hyper- to microscopy lymphoid Electron plasma Due multiple bronchiolar 2). interspersed for (Figure for ultrastructure. and airways she notable small notable body infiltration aspiration and of lamellar was lymphocytic for distortion done and concern simplification, CT was remodeling, Given alveolar biopsy architectural Chest cells, mild Lung 1). bronchiolitis, (Figure echocardiogram. feeding. chronic aspiration pyloric Additional not initial chronic plasia, post or bronchus. did and to ILD mainstem that MRI advanced right of was opacities brain proximal suggestive and opacities lobe normal trachea glass lower tracheobron- a distal ground significant left included of for and collapse notable up was 50% lingular, work bronchoscopy least Repeat flexible lobe, at Initial pro- ventilation. with upper that courses. chomalacia mechanical right 70-80%) antibiotic and multiple (Sp02 for intubation to hypoxemia notable endotracheal respond and were requiring cough, radiographs thrive, failure to respiratory chest failure acute with to presented gressed female full-term former 2-month-old A a and of disease, hemorrhage case pulmonary renal PRESENTATION unique frank CASE arthritis, without a mutation by present gene characterized COPA We to involvement. autophagy are secondary joint ineffective hemorrhage. and ILD or have and pulmonary age to stress found with of gene female ER COPA years disease Hispanic It in the 5 lung increase of to interstitial 2015. causing alteration prior diffuse in by Reticulum present identified caused Endoplasmic typically initially disorder the was Symptoms joint to that chromosome. and complex (ILD) 1q23.2 lung Golgi disease autoimmune the lung monogenic in interstitial a located of as cause described rare is a is syndrome the COPA pulmonary and frank oxygen without off mutation weaned gene has INTRODUCTION COPA and to initially secondary disease presentation. azathioprine initial performed lung and upon interstitial biopsy rituximab involvement heterozygous of Lung joint on unique case or started a renal, unique findings. identified was hemorrhage, a CT testing She report or Genetic We radiogram diagnosis. gene. ventilator. post-pyloric chest definite COPA worsening a and of the without progressive ventilation improvement in but with mechanical marked mutation infiltration prolonged admitted no lymphocytic was required with for She episodes remarkable aspiration and choking of hypoxemia. and concern and thrive for coughing, to feeding paroxysmal failure effort, with respiratory female of Hispanic infant 2-month-old A Abstract 2020 22, June 3 2 1 Quintana Carolina YOUNG A IN INFANT DISEASE LUNG INTERSTITIAL OF CAUSE AS MUTATION COPA OF PRESENTATION ATYPICAL avr eia School Medical Center Harvard Health Connecticut of University Medicine of College Baylor 1 aazn Saar Katarzyna , 1,2,3 hsmtto eut nieetv ergaetasotfo the from transport retrograde ineffective in results mutation This 2 ete Tory Heather , 1 2 n rgn Simoneau Tregony and , 3 3,4 . Posted on Authorea 22 Jun 2020 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.159285431.12330244 — This a preprint and has not been peer reviewed. Data may be preliminary. .Wti B esnB iziwk ,e l OAmttosipi RGlitasotadcause and transport ER-Golgi impair Immune mutations Dominant COPA Autosomal Novel al. et a arthritis. W, and Syndrome: Wiszniewski disease Copa B, lung autoimmune-mediated Jessen hereditary LB, al. Watkin et SK, 4. Nicholas LB, Watkin Disease. TJ, Dysregulatory the Vece in disorders. approaches mendelian 3. treatment recognized and Newly doi:10.1097/BOR.0000000000000207 features R. Goldbach-Mansky pulmonary 2015;27:511-519. A, of . Jesus Analysis de Almeida al. 2. et Z, Deng OA, syndrome. Estrada COPA JL, knowledge Tsui of lack 1. the emphasizes it studied. and be disease References to this need of her provide which knowledge will ILD, methodologies current case underlying surveillance this her the in Therefore, explains to likely described. contribution patient previously significant this those a in from mutation different significantly gene COPA remains a presentation of identification the Although and options, treatment in markers, activity disease Conclusions disease define of better markers to useful needed ANCA, been is prognosis. have ANA, research long-term counts count, additional cell blood However lavage complete patient. with protein, bronchoscopy this C-reactive and ESR, imaging as syndrome with genetic such the as along contribution markers of arthritis, mechanisms important Inflammatory molecular and the described, described. describes to hemorrhage reports yet literature speak case pulmonary Current twenty-one and ILD. of young to disease of lack due this the diagnosis however initial the in of in presentation mutation The novel made novo has a affected. de testing represent are a age members as her arthritis, presenting as family hemorrhage, well likely other (COP pulmonary is no gene ILD, entity as alpha describe dominant child subunit literature autosomal protein the This associated in nephropathy. coatomer cases and the The of dysregulation. excellent mutation immune rare has adaptive a but is exam syndrome on COPA clubbing digital has weaned She has DISCUSSION and support. improved ventilator clinically required has development. longer and she growth no Meanwhile, and considered. oxygen being off currently scattered is tinged therapy exhibited blood suppressive CT showed chest BAL ANCA age, and and bronchoscopy of 1:1280 Repeat years trapping. 3 with air At preventsecretions and or disease to weekly. thickening, joint vasculitis treatment bronchial methotrexate and early diffuse of to as renal nodules, evidence changed azathioprine as was No and well ANA rituximab therapy as be on negative. suppressive hemorrhage, started Repeat to factor pulmonary was air noted Rheumatoid She of 1). was and evaluation. progression she (Figure consolidation of (1:160). age, lobes time of positive of at lower areas months p-ANCA arthritis the patchy 22 and in with Around (1:320) peripherally findings bronchomalacia. positive chest seen of of up improvement also progression Follow noted were demonstrated bronchoscopy bronchiectasis in (http://exac.broadinstitute.org/). age Traction variant database of pathogenic ExAC months bronchograms. heterozygous the 15 in in at resulted individuals CT discharge resolved unrelated to that 60,000 prior hypertrophy in sent Her ventricular was (E241K studies left and gene age Genetic and support. COPA of hypertension ventilator wean. months secondary and 9 steroid by Absolute until supplementation, with complicated admitted months. oxygen was 6 remained tracheostomy, course for She feeds, monthly) hospital low. days, gastrojejunal were 3 cells with for NK mg/kg discharged and (10 CD3/CD8, pulses methylprednisolone CD3/CD4, on CD3, started was she feeds, > 0 eoiei ae arpae.Ruiesrelac asidctdicesdAAto ANA increased indicated labs surveillance Routine macrophages. laden hemosiderin 100 R pnRes Open ERJ > 5 :4.Gvnteefidns h ehteaeds a nrae.Adtoa immuno- Additional increased. was dose methotrexate the findings, these Given 1:640. (NM lnImmunol Clin J 0089:eo :cG2A)rpre ob xrml aeadntpresent not and rare extremely be to reported c.G721A)) 9: exon 001098398: 0842:01-21.doi:10.1183/23120541.00017-2018 2018;4(2):00017-02018. . 063()3737 doi:10.1007/s10875-016-0271-8 2016;36(4):377-387. . ,7,8 5, 2 lnclporsinadsrelac ehd r not are methods surveillance and progression clinical a Genet Nat 6 05 doi:10.1038/ng.3279 2015. . u oavreeet,immuno- effects, adverse to Due . urOi Rheumatol Opin Curr α causing ) Posted on Authorea 22 Jun 2020 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.159285431.12330244 — This a preprint and has not been peer reviewed. Data may be preliminary. .PezlF aftJ cwr ,e l ypoyi nesiilpemnaadfliua rnhoii in bronchiolitis follicular and a pneumonia by interstitial caused Lymphocytic family al. series. et Icelandic case N, an registry-based Schwerk in A J, children: syndrome Harfst COPA F, al. Prenzel 9. et GA, COPA. in Arnadottir mutation boy. S, missense 12-year-old Hansdottir recurrent a BO, in syndrome Jensson Copa 8. of findings Imaging HJ. doi:10.1007/s00247-017-3961-3 Otero 2018;48(2):279-282. G, syndrome. . COPA Perez in R, activation Noorelahi pathway interferon 7. I Type al. et doi:10.1016/j.clim.2017.10.001 M, 2018;187:33-36. Mariani . J, Tsui S, Volpi 6. Inheritance Mendelian Online OMIM 601924. COPA. Man, ALPHA; in SUBUNIT COMPLEX, PROTEIN COATOMER 5. ® tp:/mmog.Pbihd2015. Published https://omim.org/. . eit Pulmonol Pediatr M e Genet Med BMC 3 005()9997 doi:10.1002/ppul.24680 2020;55(4):909-917. . 07 doi:10.1186/s12881-017-0490-8 2017. . eit Radiol Pediatr lnImmunol Clin