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1. AB1701 IS THERE A DIFFERENCE IN THE NUMBER OF INVOLVED ORGAN SYSTEMS BETWEEN JUVENILE DIFFUSE AND LIMITED SUBTYPE SYSTEMIC SCLEROSIS PATIENTS?

Author

Foeldvari, I., primary, Klotsche, J., additional, Torok, K., additional, Kasapcopur, O., additional, Adrovic, A., additional, Feldman, B., additional, Antón, J., additional, Johnson, S. R., additional, Sztajnbok, F. R., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Khubchandani, R., additional, Stanevicha, V., additional, Schonenberg, D., additional, Al-Abadi, E., additional, Alexeeva, E., additional, Katsikas, M., additional, Sawhney, S., additional, Smith, V., additional, Appenzeller, S., additional, Avcin, T., additional, Kostik, M., additional, Lehman, T., additional, Malcova, H., additional, Marrani, E., additional, Pain, C., additional, Patwardhan, A., additional, Sifuentes-Giraldo, W. A., additional, Vasquez-Canizares, N., additional, Abu Al Saoud, S., additional, Costa Reis, P., additional, Janarthanan, M., additional, Moll, M., additional, Nemcova, D., additional, Santos, M. J., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Kaiser, D., additional, Kallinich, T., additional, Lazarevic, D., additional, Minden, K., additional, Nuruzzaman, F., additional, Opsahl Hetlevik, S., additional, Sparchez, M., additional, Uziel, Y., additional, and Helmus, N., additional

Published
2024
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2. POS0758 PRESENCE OF NAILFOLD CAPILLARY CHANGES CORRELATES WITH MORE SEVERE ORGAN INVOLVEMENT IN JUVENILE SYSTEMIC SCLERODERMA. RESULTS OF THE JUVENILE SCLERODERMA INCEPTION COHORT.

Author

Foeldvari, I., primary, Klotsche, J., additional, Torok, K., additional, Kasapcopur, O., additional, Adrovic, A., additional, Feldman, B., additional, Antón, J., additional, Johnson, S. R., additional, Sztajnbok, F. R., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Stanevicha, V., additional, Schonenberg, D., additional, Alexeeva, E., additional, Katsikas, M., additional, Khubchandani, R., additional, Sawhney, S., additional, Smith, V., additional, Al-Abadi, E., additional, Appenzeller, S., additional, Avcin, T., additional, Kostik, M., additional, Lehman, T., additional, Malcova, H., additional, Marrani, E., additional, Pain, C., additional, Patwardhan, A., additional, Sifuentes-Giraldo, W. A., additional, Vasquez-Canizares, N., additional, Abu Al Saoud, S., additional, Costa Reis, P., additional, Janarthanan, M., additional, Moll, M., additional, Nemcova, D., additional, Santos, M. J., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Kaiser, D., additional, Kallinich, T., additional, Lazarevic, D., additional, Minden, K., additional, Nielsen, S., additional, Nuruzzaman, F., additional, Opsahl Hetlevik, S., additional, Sparchez, M., additional, Uziel, Y., additional, and Helmus, N., additional

Published
2024
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3. POS0770 DIFFERENCES IN CLINICAL PRESENTATION BETWEEN JUVENILE SYSTEMIC SCLEROSIS PATIENTS WITH DIFFUSE AND LIMITED SUBTYPE. RESULTS FROM THE JUVENILE SCLERODERMA INCEPTION COHORT.

Author

Foeldvari, I., primary, Klotsche, J., additional, Torok, K., additional, Kasapcopur, O., additional, Adrovic, A., additional, Feldman, B., additional, Antón, J., additional, Johnson, S. R., additional, Sztajnbok, F. R., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Khubchandani, R., additional, Stanevicha, V., additional, Schonenberg, D., additional, Al-Abadi, E., additional, Alexeeva, E., additional, Katsikas, M., additional, Sawhney, S., additional, Smith, V., additional, Appenzeller, S., additional, Avcin, T., additional, Kostik, M., additional, Lehman, T., additional, Malcova, H., additional, Marrani, E., additional, Pain, C., additional, Patwardhan, A., additional, Sifuentes-Giraldo, W. A., additional, Vasquez-Canizares, N., additional, Abu Al Saoud, S., additional, Costa Reis, P., additional, Janarthanan, M., additional, Moll, M., additional, Nemcova, D., additional, Santos, M. J., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Kaiser, D., additional, Kallinich, T., additional, Lazarevic, D., additional, Minden, K., additional, Nuruzzaman, F., additional, Opsahl Hetlevik, S., additional, Sparchez, M., additional, Uziel, Y., additional, and Helmus, N., additional

Published
2024
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5. Endothelial injury and repair in childhood arterial ischaemic stroke

Author

Eleftheriou, D.

Subjects
618.92
Abstract

Abnormalities of the cervical or intracranial circulation, termed arteriopathies are the leading mechanism of both cause and recurrence of childhood arterial ischaemic stroke (AIS). Approximately 20% of children with AIS will have stroke recurrence but there are currently no robust biomarkers to identify this high risk group, and hence identification of patients who may be amenable to secondary preventative strategies has not been possible. This thesis attempts to address this unmet need by studying novel biomarkers to distinguish patients at risk of stroke recurrence. Indices of endothelial injury, repair and hypercoagulability were compared between patients with recurrent clinical disease course and children with a single event. Circulating endothelial cells (CECs) were higher in children with recurrent AIS, compared to those with no recurrence and controls. Further evidence of endothelial injury and cellular activation was derived by examining circulating microparticles (MP) profiles. Plasma from patients with AIS recurrence contained increased numbers of endothelial, platelet and neutrophil derived MP compared to those with no recurrence. These MPs were highly prothrombotic due to phosphatidylserine exposure providing a platform for the assembly and activation of coagulation factors; and also expression of tissue factor on some MP. An efficient in vitro assay to assess MP-related hypercoagulability by quantifying MP-mediated thrombin generation was established. Children with recurrent AIS were shown to have an enhanced MP-mediated thrombin generation. Lastly, a disturbance in endothelial progenitor cells (EPCs) in children with AIS recurrence was observed suggesting that there could be impairment of endothelial repair in these patients. In conclusion, despite the wide spectrum of clinical and radiological presentation of childhood AIS, the studies undertaken in this thesis suggest that there is an unfavourable imbalance between endothelial injury and repair, and excess hypecoagulability in children with recurrent AIS. These novel observations provide unique insights into the pathophysiology of paediatric AIS.

Published
2012

6. OP0166 LONG-TERM FOLLOW-UP OF PATIENTS ADMINISTERED EMAPALUMAB, AN ANTI–INTERFERON-Γ MONOCLONAL ANTIBODY, TO TREAT MACROPHAGE ACTIVATION SYNDROME (MAS) SECONDARY TO SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS (SJIA)

Author

De Benedetti, F., primary, Grom, A., additional, Brogan, P., additional, Bracaglia, C., additional, Pardeo, M., additional, Marucci, G., additional, Eleftheriou, D., additional, Papadopoulou, C., additional, Schulert, G., additional, Quartier, P., additional, Antón, J., additional, Laveille, C., additional, Frederiksen, R., additional, Asnaghi, V., additional, Ballabio, M., additional, Jacqmin, P., additional, and De Min, C., additional

Published
2023
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7. POS0139 DIFFUSE JUVENILE SYSTEMIC SCLEROSIS PATIENTS SHOW DISTINCT ORGAN INVOLVEMENT, ANTIBODY PATTERN AND HAVE SIGNIFICANTLY MORE SEVERE DISEASE IN THE LARGEST JSSC COHORT OF THE WORLD. RESULTS FROM THE JUVENILE SCLERODERMA INCEPTION COHORT

Author

Foeldvari, I., primary, Klotsche, J., additional, Torok, K., additional, Kasapcopur, O., additional, Adrovic, A., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Feldman, B., additional, Sztajnbok, F. R., additional, Antón, J., additional, Stanevicha, V., additional, Johnson, S., additional, Khubchandani, R., additional, Schonenberg, D., additional, Al-Abadi, E., additional, Alexeeva, E., additional, Katsikas, M., additional, Sawhney, S., additional, Smith, V., additional, Appenzeller, S., additional, Avcin, T., additional, Kostik, M., additional, Lehman, T., additional, Malcova, H., additional, Marrani, E., additional, Pain, C., additional, Patwardhan, A., additional, Sifuentes-Giraldo, W. A., additional, Vasquez-Canizares, N., additional, Costa Reis, P., additional, Janarthanan, M., additional, Moll, M., additional, Nemcova, D., additional, Santos, M. J., additional, Abu Al Saoud, S., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Kaiser, D., additional, Kallinich, T., additional, Lazarevic, D., additional, Minden, K., additional, Nielsen, S., additional, Nuruzzaman, F., additional, Opsahl Hetlevik, S., additional, Uziel, Y., additional, and Helmus, N., additional

Published
2023
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8. POS0141 APPLICATION OF CRISS SCORE, REVISED CRISS SCORE AND RCID SCORE IN PATIENTS WITH JUVENILE SYSTEMIC SCLEROSIS

Author

Klotsche, J., primary, Foeldvari, I., additional, Torok, K., additional, Del Galdo, F., additional, Furst, D., additional, Kasapcopur, O., additional, Adrovic, A., additional, Feldman, B., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Sztajnbok, F. R., additional, Antón, J., additional, Katsikas, M., additional, Stanevicha, V., additional, Appenzeller, S., additional, Avcin, T., additional, Johnson, S., additional, Kostik, M., additional, Malcova, H., additional, Marrani, E., additional, Sifuentes-Giraldo, W. A., additional, Khubchandani, R., additional, Nemcova, D., additional, Santos, M. J., additional, Schonenberg, D., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Kallinich, T., additional, Lehman, T., additional, Minden, K., additional, Moll, M., additional, Nielsen, S., additional, Patwardhan, A., additional, Smith, V., additional, and Helmus, N., additional

Published
2023
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9. Diffuse juvenile systemic sclerosis patients show distinct organ involvement, antibody pattern and have significantly more severe disease in the largest jSSc cohort of the world. Results from the juvenile scleroderma inception cohort

Author

Foeldvari, I, Klotsche, J, Torok, K, Kasapcopur, O, Adrovic, A, Terreri, MT, Sakamoto, AP, Feldman, B, Sztajnbok, F, Anton, J, Stanevicha, V, Johnson, S, Khubchandani, R, Schonenberg, D, Al-Abadi, E, Alexeeva, E, Katsicas, M, Sawhney, S, Smith, V, Appenzeller, S, Avcin, T, Kostik, M, Lehman, T, Malcova, H, Marrani, E, Pain, C, Patwardhan, A, Sifuentes-Giraldo, WA, Vasquez-Canizares, N, Costa Reis, P, Janarthanan, M, Nemcova, D, Santos, MJ, Abu Al-Saoud, S, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Eleftheriou, D, Harel, L, Horneff, G, Kaiser, D, Kallinich, T, Lazarevic, D, Minden, K, Nielsen, S, Nuruzzaman, F, Opsahl Hetlevik, S, Uziel, Y, Helmus, N, Foeldvari, I, Klotsche, J, Torok, K, Kasapcopur, O, Adrovic, A, Terreri, MT, Sakamoto, AP, Feldman, B, Sztajnbok, F, Anton, J, Stanevicha, V, Johnson, S, Khubchandani, R, Schonenberg, D, Al-Abadi, E, Alexeeva, E, Katsicas, M, Sawhney, S, Smith, V, Appenzeller, S, Avcin, T, Kostik, M, Lehman, T, Malcova, H, Marrani, E, Pain, C, Patwardhan, A, Sifuentes-Giraldo, WA, Vasquez-Canizares, N, Costa Reis, P, Janarthanan, M, Nemcova, D, Santos, MJ, Abu Al-Saoud, S, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Eleftheriou, D, Harel, L, Horneff, G, Kaiser, D, Kallinich, T, Lazarevic, D, Minden, K, Nielsen, S, Nuruzzaman, F, Opsahl Hetlevik, S, Uziel, Y, and Helmus, N

Published
2023

10. Is decreased body mass index-2 z score or less correlating with an organ involvement pattern? Results from the juvenile scleroderma inception cohort

Author

Foeldvari, I, Klotsche, J, Torok, K, Kasapcopur, O, Adrovic, A, Feldman, B, Sztajnbok, F, Anton, J, Terreri, MT, Sakamoto, AP, Khubchandani, R, Stanevicha, V, Al-Abadi, E, Alexeeva, E, Katsicas, M, Sawhney, S, Schonenberg, D, Smith, V, Appenzeller, S, Avcin, T, Lehman, T, Malcova, H, Marrani, E, Patwardhan, A, Sifuentes-Giraldo, WA, Vasquez-Canizares, N, Costa Reis, P, Janarthanan, M, Johnson, S, Kostik, M, Nemcova, D, Pain, C, Santos, MJ, Abu Al-Saoud, S, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Eleftheriou, D, Harel, L, Horneff, G, Kaiser, D, Kallinich, T, Lazarevic, D, Minden, K, Nuruzzaman, F, Opsahl Hetlevik, S, Uziel, Y, Helmus, N, Foeldvari, I, Klotsche, J, Torok, K, Kasapcopur, O, Adrovic, A, Feldman, B, Sztajnbok, F, Anton, J, Terreri, MT, Sakamoto, AP, Khubchandani, R, Stanevicha, V, Al-Abadi, E, Alexeeva, E, Katsicas, M, Sawhney, S, Schonenberg, D, Smith, V, Appenzeller, S, Avcin, T, Lehman, T, Malcova, H, Marrani, E, Patwardhan, A, Sifuentes-Giraldo, WA, Vasquez-Canizares, N, Costa Reis, P, Janarthanan, M, Johnson, S, Kostik, M, Nemcova, D, Pain, C, Santos, MJ, Abu Al-Saoud, S, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Eleftheriou, D, Harel, L, Horneff, G, Kaiser, D, Kallinich, T, Lazarevic, D, Minden, K, Nuruzzaman, F, Opsahl Hetlevik, S, Uziel, Y, and Helmus, N

Published
2023

11. Application of CRISS score, revised CRISS score and RCID score in patients with Juvenile systemic sclerosis

Author

Klotsche, J, Foeldvari, I, Torok, K, Del Gado, F, Furst, DE, Kasapcopur, O, Adrovic, A, Feldman, B, Terreri, MT, Sakamoto, AP, Sztajnbok, F, Anton, J, Katsicas, M, Stanevicha, V, Appenzeller, S, Avcin, T, Johnson, S, Kostik, M, Malcova, H, Marrani, E, Sifuentes-Giraldo, WA, Khubchandani, R, Nemcova, D, Santos, MJ, Schonenberg, D, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Eleftheriou, D, Harel, L, Horneff, G, Kallinich, T, Lehman, T, Minden, K, Moll, M, Nielsen, S, Patwardhan, A, Smith, V, Helmus, N, Klotsche, J, Foeldvari, I, Torok, K, Del Gado, F, Furst, DE, Kasapcopur, O, Adrovic, A, Feldman, B, Terreri, MT, Sakamoto, AP, Sztajnbok, F, Anton, J, Katsicas, M, Stanevicha, V, Appenzeller, S, Avcin, T, Johnson, S, Kostik, M, Malcova, H, Marrani, E, Sifuentes-Giraldo, WA, Khubchandani, R, Nemcova, D, Santos, MJ, Schonenberg, D, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Eleftheriou, D, Harel, L, Horneff, G, Kallinich, T, Lehman, T, Minden, K, Moll, M, Nielsen, S, Patwardhan, A, Smith, V, and Helmus, N

Published
2023

12. Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.

Author

Maassen, W., Legger, G., Kul Cinar, O., Daele, P. van, Gattorno, M., Bader-Meunier, B., Wouters, C., Briggs, T., Johansson, L., Velde, J. van der, Swertz, M., Omoyinmi, E., Hoppenreijs, E.P., Belot, A., Eleftheriou, D., Caorsi, R., Aeschlimann, F., Boursier, G., Brogan, P., Haimel, M., Gijn, M. van, Maassen, W., Legger, G., Kul Cinar, O., Daele, P. van, Gattorno, M., Bader-Meunier, B., Wouters, C., Briggs, T., Johansson, L., Velde, J. van der, Swertz, M., Omoyinmi, E., Hoppenreijs, E.P., Belot, A., Eleftheriou, D., Caorsi, R., Aeschlimann, F., Boursier, G., Brogan, P., Haimel, M., and Gijn, M. van

Abstract

Item does not contain fulltext, INTRODUCTION: Accurate and standardized phenotypic descriptions are essential in diagnosing rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) system was developed to provide a rich collection of hierarchical phenotypic descriptions. However, although the HPO terms for inborn errors of immunity have been improved and curated, it has not been investigated whether this curation improves the diagnosis of systemic autoinflammatory disease (SAID) patients. Here, we aimed to study if improved HPO annotation for SAIDs enhanced SAID identification and to demonstrate the potential of phenotype-driven genome diagnostics using curated HPO terms for SAIDs. METHODS: We collected HPO terms from 98 genetically confirmed SAID patients across eight different European SAID expertise centers and used the LIRICAL (Likelihood Ratio Interpretation of Clinical Abnormalities) computational algorithm to estimate the effect of HPO curation on the prioritization of the correct SAID for each patient. RESULTS: Our results show that the percentage of correct diagnoses increased from 66% to 86% and that the number of diagnoses with the highest ranking increased from 38 to 45. In a further pilot study, curation also improved HPO-based whole-exome sequencing (WES) analysis, diagnosing 10/12 patients before and 12/12 after curation. In addition, the average number of candidate diseases that needed to be interpreted decreased from 35 to 2. DISCUSSION: This study demonstrates that curation of HPO terms can increase identification of the correct diagnosis, emphasizing the high potential of HPO-based genome diagnostics for SAIDs.

Published
2023

14. POS0172 DIFFUSE JUVENILE SYSTEMIC SCLEROSIS PATIENTS SHOW DISTINCT ORGAN INVOLVEMENT AND HAVE MORE SEVERE DISEASE IN THE LARGEST jSSc COHORT OF THE WORLD. RESULTS FROM THE THE JUVENILE SCLERODERMA INCEPTION COHORT. www.juvenile-scleroderma.com

Author

Foeldvari, I., primary, Klotsche, J., additional, Kasapcopur, O., additional, Adrovic, A., additional, Torok, K., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Feldman, B., additional, Sztajnbok, F. R., additional, Stanevicha, V., additional, Anton, J., additional, Johnson, S., additional, Khubchandani, R., additional, Alexeeva, E., additional, Katsikas, M., additional, Sawhney, S., additional, Smith, V., additional, Appenzeller, S., additional, Avcin, T., additional, Kostik, M., additional, Lehman, T., additional, Malcova, H., additional, Marrani, E., additional, Pain, C., additional, Schonenberg, D., additional, Sifuentes-Giraldo, W. A., additional, Vasquez-Canizares, N., additional, Costa Reis, P., additional, Janarthanan, M., additional, Moll, M., additional, Nemcova, D., additional, Patwardhan, A., additional, Santos, M. J., additional, Abu Al Saoud, S., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Cimaz, R., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Kaiser, D., additional, Kallinich, T., additional, Lazarevic, D., additional, Minden, K., additional, Nielsen, S., additional, Nuruzzaman, F., additional, Opsahl Hetlevik, S., additional, Uziel, Y., additional, and Helmus, N., additional

Published
2022
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15. AB1236 CLINICAL CHARACTERISTICS OF JUVENILE ONSET SYSTEMIC SCLEROSIS PATIENTS FROM THE JUVENILE SCLERODERMA INCEPTION COHORT COMPARED TO ADULT AGE JUVENILE-ONSET PATIENTS FROM EUSTAR. ARE THESE DIFFERENCES SUGGESTING RISK FOR MORTALITY?

Author

Foeldvari, I., primary, Klotsche, J., additional, Carreira, P., additional, Kasapcopur, O., additional, Torok, K., additional, Airò, P., additional, Iannone, F., additional, Allanore, Y., additional, Balbir-Gurman, A., additional, Schmeiser, T., additional, Sztajnbok, F. R., additional, Terreri, M. T., additional, Stanevicha, V., additional, Anton, J., additional, Feldman, B., additional, Khubchandani, R., additional, Alexeeva, E., additional, Johnson, S., additional, Katsikas, M., additional, Sawhney, S., additional, Smith, V., additional, Appenzeller, S., additional, Avcin, T., additional, Campochiaro, C., additional, De Vries-Bouwstra, J., additional, Kostik, M., additional, Lehman, T., additional, Marrani, E., additional, Schonenberg, D., additional, Sifuentes-Giraldo, W. A., additional, Vasquez-Canizares, N., additional, Janarthanan, M., additional, Malcova, H., additional, Moll, M., additional, Nemcova, D., additional, Patwardhan, A., additional, Santos, M. J., additional, Seskute, G., additional, Truchetet, M. E., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Cimaz, R., additional, Costa Reis, P., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Kaiser, D., additional, Kallinich, T., additional, Lazarevic, D., additional, Minden, K., additional, Nielsen, S., additional, Nuruzzaman, F., additional, Opsahl Hetlevik, S., additional, Uziel, Y., additional, Veale, D., additional, Hoffmann-Vold, A. M., additional, Gabrielli, A., additional, and Distler, O., additional

Published
2022
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16. POS1302 PATIENT AND PHYSICIAN REPORTED OUTCOMES OF JUVENILE SYSTEMIC SCLEROSIS PATIENTS SIGNIFICANTLY IMPROVE OVER 12 MONTHS OBSERVATION PERIOD IN THE JUVENILE SYSTEMIC SCLERODERMA INCEPTION COHORT. www.juvenile-scleroderma.com

Author

Foeldvari, I., primary, Klotsche, J., additional, Kasapcopur, O., additional, Adrovic, A., additional, Torok, K., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Feldman, B., additional, Anton, J., additional, Katsikas, M., additional, Stanevicha, V., additional, Sztajnbok, F. R., additional, Appenzeller, S., additional, Avcin, T., additional, Kostik, M., additional, Marrani, E., additional, Sifuentes-Giraldo, W. A., additional, Johnson, S., additional, Khubchandani, R., additional, Nemcova, D., additional, Santos, M. J., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Cimaz, R., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Janarthanan, M., additional, Kallinich, T., additional, Minden, K., additional, Moll, M., additional, Nielsen, S., additional, Patwardhan, A., additional, Schonenberg, D., additional, Smith, V., additional, and Helmus, N., additional

Published
2022
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17. POS1299 JUVENILE SYSTEMIC SCLEROSIS TREATMENT PRACTICES IN AN INTERNATIONAL COHORT AND COMPARISON TO RECENT SHARE CONSENSUS GUIDELINES.

Author

Foeldvari, I., primary, Torok, K., additional, Kasapcopur, O., additional, Adrovic, A., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Feldman, B., additional, Anton, J., additional, Sztajnbok, F. R., additional, Stanevicha, V., additional, Appenzeller, S., additional, Avcin, T., additional, Johnson, S., additional, Khubchandani, R., additional, Kostik, M., additional, Marrani, E., additional, Sifuentes-Giraldo, W. A., additional, Nemcova, D., additional, Santos, M. J., additional, Schonenberg, D., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Cimaz, R., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Janarthanan, M., additional, Kallinich, T., additional, Lehman, T., additional, Moll, M., additional, Nuruzzaman, F., additional, Patwardhan, A., additional, Smith, V., additional, and Helmus, N., additional

Published
2022
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18. OP0193 EFFICACY AND SAFETY OF EMAPALUMAB, AN ANTI-INTERFERON GAMMA MONOCLONAL ANTIBODY, IN PATIENTS WITH MACROPHAGE ACTIVATION SYNDROME (MAS) IN SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS (sJIA) WHO HAD FAILED HIGH-DOSE GLUCOCORTICOIDS

Author

De Benedetti, F., primary, Grom, A., additional, Brogan, P., additional, Bracaglia, C., additional, Pardeo, M., additional, Marucci, G., additional, Eleftheriou, D., additional, Papadopoulou, C., additional, Quartier, P., additional, Anton, J., additional, Frederiksen, R., additional, Asnaghi, V., additional, and de Min, C., additional

Published
2022
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19. Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

Author

Haimel, M., Pazmandi, J., Heredia, R.J., Dmytrus, J., Bal, S.K., Zoghi, S., Daele, P. van, Briggs, T.A., Wouters, C., Bader-Meunier, B., Aeschlimann, F.A., Caorsi, R., Eleftheriou, D., Hoppenreijs, E.P., Salzer, E., Bakhtiar, S., Derfalvi, B., Saettini, F., Kusters, M.A.A., Elfeky, R., Trück, J., Rivière, J.G., Burg, M. van der, Gattorno, M., Seidel, M.G., Burns, S., Warnatz, K., Hauck, F., Brogan, P., Gilmour, K.C., Schuetz, C., Simon, A., Bock, C., Hambleton, S., Vries, E de, Robinson, P.N., Gijn, M. van, Boztug, K., Haimel, M., Pazmandi, J., Heredia, R.J., Dmytrus, J., Bal, S.K., Zoghi, S., Daele, P. van, Briggs, T.A., Wouters, C., Bader-Meunier, B., Aeschlimann, F.A., Caorsi, R., Eleftheriou, D., Hoppenreijs, E.P., Salzer, E., Bakhtiar, S., Derfalvi, B., Saettini, F., Kusters, M.A.A., Elfeky, R., Trück, J., Rivière, J.G., Burg, M. van der, Gattorno, M., Seidel, M.G., Burns, S., Warnatz, K., Hauck, F., Brogan, P., Gilmour, K.C., Schuetz, C., Simon, A., Bock, C., Hambleton, S., Vries, E de, Robinson, P.N., Gijn, M. van, and Boztug, K.

Abstract

Contains fulltext : 248208.pdf (Publisher’s version ) (Open Access), BACKGROUND: Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. OBJECTIVES: We sought to systematically review available terms in HPO for the depiction of IEIs, to expand HPO, yielding more comprehensive sets of terms, and to reannotate IEIs with HPO terms to provide accurate, standardized phenotypic descriptions. METHODS: We initiated a collaboration involving expert clinicians, geneticists, researchers working on IEIs, and bioinformaticians. Multiple branches of the HPO tree were restructured and extended on the basis of expert review. Our ontology-guided machine learning coupled with a 2-tier expert review was applied to reannotate defined subgroups of IEIs. RESULTS: We revised and expanded 4 main branches of the HPO tree. Here, we reannotated 73 diseases from 4 International Union of Immunological Societies-defined IEI disease subgroups with HPO terms. We achieved a 4.7-fold increase in the number of phenotypic terms per disease. Given the new HPO annotations, we demonstrated improved ability to computationally match selected IEI cases to their known diagnosis, and improved phenotype-driven disease classification. CONCLUSIONS: Our targeted expansion and reannotation presents enhanced precision of disease annotation, will enable superior HPO-based IEI characterization, and hence benefit both IEI diagnostic and research activities.

Published
2022

20. Diffuse juvenile systemic sclerosis patients show distinct organ involvement and have more severe disease in the largest jSSc cohort of the world. Results from the the juvenile scleroderma inception cohort

Author

Foeldvari, I, Klotsche, J, Kasapcopur, O, Adrovic, A, Torok, K, Terreri, MT, Sakamoto, AP, Feldman, B, Sztajnbok, F, Stanevicha, V, Anton, J, Johnson, S, Khubchandani, R, Alexeeva, E, Katsicas, M, Sawhney, S, Smith, V, Appenzeller, S, Avcin, T, Kostik, M, Lehman, T, Malcova, H, Marrani, E, Pain, C, Schonenberg, D, Sifuentes-Giraldo, WA, Vasquez-Canizares, N, Costa Reis, P, Janarthanan, M, Moll, M, Nemcova, D, Patwardhan, A, Santos, MJ, Abu Al-Saoud, S, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Cimaz, R, Eleftheriou, D, Harel, L, Horneff, G, Kaiser, D, Kallinich, T, Lazarevic, D, Minden, K, Nuruzzaman, F, Opsahl Hetlevik, S, Uziel, Y, Helmus, N, Foeldvari, I, Klotsche, J, Kasapcopur, O, Adrovic, A, Torok, K, Terreri, MT, Sakamoto, AP, Feldman, B, Sztajnbok, F, Stanevicha, V, Anton, J, Johnson, S, Khubchandani, R, Alexeeva, E, Katsicas, M, Sawhney, S, Smith, V, Appenzeller, S, Avcin, T, Kostik, M, Lehman, T, Malcova, H, Marrani, E, Pain, C, Schonenberg, D, Sifuentes-Giraldo, WA, Vasquez-Canizares, N, Costa Reis, P, Janarthanan, M, Moll, M, Nemcova, D, Patwardhan, A, Santos, MJ, Abu Al-Saoud, S, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Cimaz, R, Eleftheriou, D, Harel, L, Horneff, G, Kaiser, D, Kallinich, T, Lazarevic, D, Minden, K, Nuruzzaman, F, Opsahl Hetlevik, S, Uziel, Y, and Helmus, N

Published
2022

21. Juvenile systemic sclerosis treatment practices in an international cohort and comparison to recent SHARE consensus guidelines

Author

Foeldvari, I, Klotsche, J, Kasapcopur, O, Adrovic, A, Torok, K, Terreri, MT, Sakamoto, AP, Feldman, B, Anton, J, Sztajnbok, F, Stanevicha, V, Appenzeller, S, Avcin, T, Johnson, S, Khubchandani, R, Kostik, M, Marrani, E, Sifuentes-Giraldo, WA, Nemcova, D, Santos, MJ, Schonenberg, D, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Cimaz, R, Eleftheriou, D, Harel, L, Horneff, G, Janarthanan, M, Kallinich, T, Lehman, T, Moll, M, Nuruzzaman, F, Patwardhan, A, Smith, V, Helmus, N, Foeldvari, I, Klotsche, J, Kasapcopur, O, Adrovic, A, Torok, K, Terreri, MT, Sakamoto, AP, Feldman, B, Anton, J, Sztajnbok, F, Stanevicha, V, Appenzeller, S, Avcin, T, Johnson, S, Khubchandani, R, Kostik, M, Marrani, E, Sifuentes-Giraldo, WA, Nemcova, D, Santos, MJ, Schonenberg, D, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Cimaz, R, Eleftheriou, D, Harel, L, Horneff, G, Janarthanan, M, Kallinich, T, Lehman, T, Moll, M, Nuruzzaman, F, Patwardhan, A, Smith, V, and Helmus, N

Published
2022

22. Patient and physician reported outcomes of juvenile systemic sclerosis patients significantly improve over 12 months observation period in the juvenile systemic scleroderma inception cohort

Author

Foeldvari, I, Klotsche, J, Kasapcopur, O, Adrovic, A, Torok, K, Terreri, MT, Feldman, B, Anton, J, Katsicas, M, Stanevicha, V, Sztajnbok, F, Appenzeller, S, Avcin, T, Kostik, M, Marrani, E, Sifuentes-Giraldo, WA, Johnson, S, Khubchandani, R, Nemcova, D, Santos, MJ, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Cimaz, R, Eleftheriou, D, Harel, L, Horneff, G, Janarthanan, M, Kallinich, T, Minden, K, Moll, M, Nielsen, S, Patwardhan, A, Schonenberg, D, Smith, V, Helmus, N, Foeldvari, I, Klotsche, J, Kasapcopur, O, Adrovic, A, Torok, K, Terreri, MT, Feldman, B, Anton, J, Katsicas, M, Stanevicha, V, Sztajnbok, F, Appenzeller, S, Avcin, T, Kostik, M, Marrani, E, Sifuentes-Giraldo, WA, Johnson, S, Khubchandani, R, Nemcova, D, Santos, MJ, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Cimaz, R, Eleftheriou, D, Harel, L, Horneff, G, Janarthanan, M, Kallinich, T, Minden, K, Moll, M, Nielsen, S, Patwardhan, A, Schonenberg, D, Smith, V, and Helmus, N

Published
2022

23. Risk-proportionate approach to paediatric clinical trials: The legal requirements, challenges, and the way forward under the European Union Clinical Trials Regulation

Author

Wan, M., Alessandrini, E., Brogan, P., Eleftheriou, D., Warris, A., Bruggemann, R.J.M., Turner, M., Wan, M., Alessandrini, E., Brogan, P., Eleftheriou, D., Warris, A., Bruggemann, R.J.M., and Turner, M.

Abstract

Item does not contain fulltext, BACKGROUND: It is now widely accepted that there is a need for safety and efficacy data on medicines used in children. In the European Union, legislation has provided the necessary framework obligating and incentivizing pharmaceutical companies to carry out appropriate paediatric research to support the development of new medicines. This change in research culture, that medicines used in children should be appropriately researched in children, has also led to the recognition of the importance of investigator-initiated clinical trials in furthering medical knowledge on the off-label use of authorized medicines for which paediatric data are often limited. However, medicines regulatory authorities of European Union countries have largely adopted a uniform approach to the regulation of both industry-sponsored and investigator-initiated trials and, in doing so, have added disproportionate burden to the conduct of paediatric clinical trials investigating authorized medicines. CASE STUDIES: Two European multinational paediatric clinical trials funded by the conect4children consortium are presented to provide a comparative insight into past challenges and to illustrate how the new framework provided by the European Clinical Trials Regulation (No. 536/2014) addresses these barriers in practice. CONCLUSION: The European Clinical Trials Regulation gives a strong impetus to a risk-proportionate approach and offers a path for more efficient delivery of investigator-initiated paediatric clinical trials.

Published
2022

25. MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis

Author

Malik, P., primary, Antonini, L., additional, Mannam, P., additional, Aboobacker, F.N., additional, Merve, A., additional, Gilmour, K., additional, Rao, K., additional, Kumar, S., additional, Mani, S.E., additional, Eleftheriou, D., additional, Rao, A., additional, Hemingway, C., additional, Sudhakar, S.V., additional, Bartram, J., additional, and Mankad, K., additional

Published
2021
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28. POS1304 JUVENILE SYSTEMIC SCLEROSIS (JSSC) PATIENTS WITH OVERLAP CHARACTERISTICS DO NOT HAVE MILD DISEASE. RESULTS FROM THE JSSC INCEPTION COHORT. WWW.JUVENILESCLERODERMA.COM

Author

Foeldvari, I., primary, Klotsche, J., additional, Kasapcopur, O., additional, Adrovic, A., additional, Torok, K., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Feldman, B., additional, Stanevicha, V., additional, Anton, J., additional, Sztajnbok, F. R., additional, Khubchandani, R., additional, Alexeeva, E., additional, Katsikas, M., additional, Sawhney, S., additional, Smith, V., additional, Appenzeller, S., additional, Avcin, T., additional, Kostik, M., additional, Lehman, T., additional, Marrani, E., additional, Schonenberg, D., additional, Sifuentes-Giraldo, W. A., additional, Vasquez-Canizares, N., additional, Janarthanan, M., additional, Moll, M., additional, Nemcova, D., additional, Patwardhan, A., additional, Santos, M. J., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Cimaz, R., additional, Costa Reis, P., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Johnson, S., additional, Kaiser, D., additional, Kallinich, T., additional, Lazarevic, D., additional, Minden, K., additional, Nielsen, S., additional, Nuruzzaman, F., additional, Opsahl Hetlevik, S., additional, Uziel, Y., additional, and Helmus, N., additional

Published
2021
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29. POS0079 PATIENTS WITH JUVENILE SYSTEMIC SCLEROSIS HAVE A DISTINCT PATTERN OF ORGAN INVOLVEMENT.RESULTS FROM THE JUVENILE SYSTEMIC SCLEROSIS INCEPTION COHORT. WWW.JUVENILE-SCLERODERMA.COM

Author

Foeldvari, I., primary, Klotsche, J., additional, Kasapcopur, O., additional, Adrovic, A., additional, Torok, K., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Feldman, B., additional, Stanevicha, V., additional, Anton, J., additional, Sztajnbok, F. R., additional, Khubchandani, R., additional, Alexeeva, E., additional, Katsikas, M., additional, Sawhney, S., additional, Smith, V., additional, Appenzeller, S., additional, Avcin, T., additional, Kostik, M., additional, Lehman, T., additional, Marrani, E., additional, Schonenberg, D., additional, Sifuentes-Giraldo, W. A., additional, Vasquez-Canizares, N., additional, Janarthanan, M., additional, Moll, M., additional, Nemcova, D., additional, Patwardhan, A., additional, Santos, M. J., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Cimaz, R., additional, Costa Reis, P., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Johnson, S., additional, Kaiser, D., additional, Kallinich, T., additional, Lazarevic, D., additional, Minden, K., additional, Nielsen, S., additional, Nuruzzaman, F., additional, Opsahl Hetlevik, S., additional, Uziel, Y., additional, and Helmus, N., additional

Published
2021
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30. Differences sustained between diffuse and limited forms of juvenile systemic sclerosis in expanded international cohort. www.juvenile-scleroderma.com

Author

Foeldvari I, Klotsche J, Kasapcopur O, Adrovic A, Terreri MT, Sakamoto AP, Stanevicha V, Sztajnbok F, Anton-Lopez J, Feldman B, Alexeeva E, Katsicas M, Smith V, Avcin T, Marrani E, Kostik M, Lehman T, Sifuentes-Giraldo WA, Vasquez-Canizares N, Appenzeller S, Janarthanan M, Moll M, Nemcova D, Patwardhan A, Santos MJ, Sawhney S, Schonenberg-Meinema D, Battagliotti C, Berntson L, Bica B, Brunner J, Costa-Reis P, Eleftheriou D, Harel L, Horneff G, Kaiser D, Kallinich T, Lazarevic D, Minden K, Nielsen S, Nuruzzaman F, Uziel Y, Helmus N, and Torok KS

Abstract

OBJECTIVES: To evaluate the baseline clinical characteristics of juvenile systemic sclerosis (jSSc) patients in the international Juvenile SSc Inception Cohort (jSScC), compare these characteristics between the classically defined diffuse (dcjSSc) and limited cutaneous (lcjSSc) subtypes, and among those with overlap features. METHODS: A cross-sectional study was performed using baseline visit data. Demographic, organ system evaluation, treatment, and patient and physician reported outcomes were extracted and summary statistics applied. Comparisons between dcjSSc and lcSSc subtypes and patients with and without overlap features were performed using Chi-square and Mann Whitney U-tests. RESULTS: At data extraction 150 jSSc patients were enrolled across 42 centers, 83% were Caucasian, 80% female, dcjSSc predominated (72%), and 17% of the cohort had overlap features. Significant differences were found between dcjSSc and lcjSSc regarding the modified Rodnan Skin Score, presence of Gottron's papules, digital tip ulceration, 6 Minute walk test, composite pulmonary and cardiac involvement. All more frequent in dcSSc except for cardiac involvement. DcjSSc patients had significantly worse scores for physician rated disease activity and damage. A significantly higher occurrence of Gottron's papules, musculoskeletal involvement and composite pulmonary involvement, and significantly lower frequency of Raynaud's phenomenon, were seen in those with overlap features. CONCLUSION: Results from a large international jSSc cohort demonstrate significant differences between dcjSSc and lcjSSc patients including more globally severe disease and increased frequency of ILD in dcjSSc patients, while those with lcSSc have more frequent cardiac involvement. Those with overlap features had an unexpected higher frequency of interstitial lung disease.

Published
2021

32. Patients with Juvenile Systemic Sclerosis Have a Distinct Pattern of Organ Involvement: Results from the Juvenile Systemic Sclerosis Inception Cohort

Author

Foeldvari, I, Klotsche, J, Kasapcopur, O, Adrovic, A, Torok, K, Terreri, M, Sakamoto, AP, Sztajnbok, F, Feldman, B, Stanevicha, V, Anton-Lopez J, Khubchandani, R, Alexeeva, E, Johnson, S, Katsicas, MM, Sawhney, S, Smith, V, Appenzeller, S, Avcin, T, Kostik, M, Lehman, T, Marrani, E, Schonenberg-Meinema, D, Sifuentes-Giraldo, WA, Vasquez-Canizares, N, Janarthanan, M, Malcova, H, Moll, M, Nemcova, D, Patwardhan, A, Santos, MJ, Battagliotti, C, Berntson, L, Bica, BERG, Brunner, J, Cimaz, R, Reis, PC, Eleftheriou, D, Harel, L, Horneff, G, Kaiser, D, Kallinich, T, Lazarevic, D, Minden, K, Nielsen, S, Nuruzzaman, F, Hetlevik, SO, Uziel, Y, and Helmus, N

Published
2021

33. Male Juvenile Systemic Sclerosis Patients Have More Severe Disease: Results from the International Juvenile Scleroderma Inception Cohort

Author

Foeldvari, I, Klotsche, J, Kasapcopur, O, Adrovic, A, Torok, K, Terreri, M, Sakamoto, AP, Sztajnbok, F, Feldman, B, Stanevicha, V, Anton-Lopez J, Khubchandani, R, Alexeeva, E, Johnson, S, Katsicas, MM, Sawhney, S, Smith, V, Appenzeller, S, Avcin, T, Kostik, M, Lehman, T, Marrani, E, Schonenberg-Meinema, D, Sifuentes-Giraldo, WA, Vasquez-Canizares, N, Janarthanan, M, Malcova, H, Moll, M, Nemcova, D, Patwardhan, A, Santos, MJ, Battagliotti, C, Berntson, L, Bica, BERG, Brunner, J, Cimaz, R, Reis, PC, Eleftheriou, D, Harel, L, Horneff, G, Kaiser, D, Kallinich, T, Lazarevic, D, Minden, K, Nielsen, S, Nuruzzaman, F, Hetlevik, SO, Uziel, Y, and Helmus, N

Published
2021

34. Mycophenolate Mofetil Versus Cyclophosphamide for Remission Induction in Childhood Polyarteritis Nodosa:An Open-Label, Randomized, Bayesian Noninferiority Trial

Author

Brogan, P.A., Arch, B., Hickey, H., Anton, J., Iglesias, E., Baildam, E., Mahmood, K., Cleary, G., Moraitis, E., Papadopoulou, C., Beresford, M.W., Riley, P., Demir, S., Ozen, S., Culeddu, G., Hughes, D.A., Dolezalova, P., Hampson, L., Whitehead, J., Jayne, D., Ruperto, N., Tudur-Smith, C., Eleftheriou, D., Brogan, P.A., Arch, B., Hickey, H., Anton, J., Iglesias, E., Baildam, E., Mahmood, K., Cleary, G., Moraitis, E., Papadopoulou, C., Beresford, M.W., Riley, P., Demir, S., Ozen, S., Culeddu, G., Hughes, D.A., Dolezalova, P., Hampson, L., Whitehead, J., Jayne, D., Ruperto, N., Tudur-Smith, C., and Eleftheriou, D.

Abstract

Objective: Cyclophosphamide (CYC) is used in clinical practice off-label for the induction of remission in childhood polyarteritis nodosa (PAN). Mycophenolate mofetil (MMF) might offer a less toxic alternative. This study was undertaken to explore the relative effectiveness of CYC and MMF treatment in a randomized controlled trial (RCT). Methods: This was an international, open-label, Bayesian RCT to investigate the relative effectiveness of CYC and MMF for remission induction in childhood PAN. Eleven patients with newly diagnosed childhood PAN were randomized (1:1) to receive MMF or intravenous CYC; all patients received the same glucocorticoid regimen. The primary end point was remission within 6 months while compliant with glucocorticoid taper. Bayesian distributions for remission rates were established a priori for MMF and CYC by experienced clinicians and updated to posterior distributions on trial completion. Results: Baseline disease activity and features were similar between the 2 treatment groups. The primary end point was met in 4 of 6 patients (67%) in the MMF group and 4 of 5 patients (80%) in the CYC group. Time to remission was shorter in the MMF group compared to the CYC group (median 7.1 weeks versus 17.6 weeks). No relapses occurred in either group within 18 months. Two serious infections were found to be likely linked to MMF treatment. Physical and psychosocial quality-of-life scores were superior in the MMF group compared to the CYC group at 6 months and 18 months. Combining the prior expert opinion with results from the present study provided posterior estimates of remission of 71% for MMF (90% credibility interval [90% CrI] 51, 83) and 75% for CYC (90% CrI 57, 86). Conclusion: The present results, taken together with prior opinion, indicate that rates of remission induction in childhood PAN are similar with MMF treatment and CYC treatment, and MMF treatment might be associated with better health-related quality of life than CYC treatment.

Published
2021

37. TRAP1 chaperone protein mutations and autoinflammation

Author

Standing, ASI, Hong, Y, Paisan-Ruiz, C, Omoyinmi, E, Medlar, A, Stanescu, H, Kleta, R, Rowcenzio, D, Hawkins, P, Lachmann, H, McDermott, MF, Eleftheriou, D, Klein, N, and Brogan, PA

Abstract

We identified a consanguineous kindred, of three affected children with severe autoinflammation, resulting in the death of one sibling and allogeneic stem cell transplantation in the other two. All three were homozygous for MEFV p.S208C mutation; however, their phenotype was more severe than previously reported, prompting consideration of an oligogenic autoinflammation model. Further genetic studies revealed homozygous mutations in TRAP1, encoding the mitochondrial/ER resident chaperone protein tumour necrosis factor receptor associated protein 1 (TRAP1). Identification of a fourth, unrelated patient with autoinflammation and compound heterozygous mutation of TRAP1 alone facilitated further functional studies, confirming the importance of this protein as a chaperone of misfolded proteins with loss of function, which may contribute to autoinflammation. Impaired TRAP1 function leads to cellular stress and elevated levels of serum IL-18. This study emphasizes the importance of considering digenic or oligogenic models of disease in particularly severe phenotypes and suggests that autoinflammatory disease might be enhanced by bi-allelic mutations in TRAP1.

Published
2020

38. Under detection of interstitial lung disease in juvenile systemic sclerosis (jSSc)

Author

Foeldvari I, Klotsche J, Hinrichs B, Helmus N, Kasapcopur O, Adrovic A, Sztajnbok F, Terreri MT, Anton-Lopez J, Smith V, Katsicas M, Kostik M, Vasquez-Canizares N, Avcin T, Feldman B, Janarthanan M, Santos MJ, Sawhney S, Schonenberg-Meinema D, Sifuentes-Giraldo WA, Alexeeva E, Appenzeller S, Battagliotti C, Berntson L, Bica B, Costa Reis P, Eleftheriou D, Kallinich T, Lehman T, Marrani E, Minden K, Nielsen S, Nuruzzaman F, Patwardhan A, Khubchandani R, Stanevicha V, Uziel Y, and Torok KS

Subjects
respiratory system, behavioral disciplines and activities, respiratory tract diseases
Abstract

OBJECTIVES: Utilizing data obtained from a prospective international juvenile systemic sclerosis cohort (jSScC) to determine if pulmonary screening with forced vital capacity (FVC) and diffusing capacity of the lungs for carbon monoxide (DLCO) is sufficient to assess the presence of interstitial lung disease (ILD) in comparison to high resolution computed tomography (HRCT) in jSSc. METHODS: The jSScC cohort database was queried for patients enrolled from January 2008 to January 2020 with recorded pulmonary function tests (PFT) parameters and HRCT to determine the discriminatory properties of PFTs parameters, FVC and DLCO, in detecting ILD. RESULTS: Eighty-six jSSc patients had both CT imaging and FVC values for direct comparison. Using findings on HRCT as the standard measure of ILD presence, the sensitivity of FVC in detecting ILD in jSSc was only 40%, the specificity was 77%, and AUC was 0.58. Fifty-eight jSSc patients had both CT imaging and DLCO values for comparison. The sensitivity of DLCO in detecting ILD was 76%, the specificity was 70%, and AUC was 0.73. CONCLUSION: The performance of PFTs in jSSc to detect underlying ILD was quite limited. Specifically, the FVC, which is one of the main clinical parameters in adult SSc to detect and monitor ILD, would miss approximately 60% of children that had ILD changes on their accompanying HRCT. The DLCO was more sensitive in detecting potential abnormalities in HRCT, but with less specificity than the FVC. These results support the use of HRCT in tandem with PFTs for the screening of ILD in jSSc.

Published
2020

39. Janus kinase inhibition for autoinflammation in DNASE2 deficiency

Author

Hong, Y, Capitani, M, Murphy, C, Pandey, S, Cavounidis, A, Takeshita, H, Nanthapisal, S, Yasuda, T, Bader-Meunier, B, McCreary, D, Omoyinmi, E, Rao, A, Booth, C, Gilmour, K, Sebire, N, Shah, N, Klein, N, Bullock, A, Eleftheriou, D, Uhlig, H, and Brogan, P

Published
2019

44. SAT0500 HOW THE ADULT CRISS WORKS IN PEDIATRIC jSSc PATIENTS - RESULTS FROM THE JUVENILE SCLERODERMA INCEPTION COHORT

Author

Klotsche, J., primary, Foeldvari, I., additional, Kasapcopur, O., additional, Adrovic, A., additional, Torok, K., additional, Stanevicha, V., additional, Anton, J., additional, Marrani, E., additional, Terreri, M. T., additional, Sztajnbok, F. R., additional, Battagliotti, C., additional, Berntson, L., additional, Eleftheriou, D., additional, Horneff, G., additional, Nuruzzaman, F., additional, and Helmus, N., additional

Published
2020
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45. THU0499 IS THERE A DIFFERENT PRESENTATION OF JUVENILE SYSTEMIC DIFFUSE AND LIMITED SUBSET? DATA FROM THE JUVENILE SCLERODERMA INCEPTION COHORT. WWW.JUVENILE-SCLEORDERMA.COM

Author

Foeldvari, I., primary, Klotsche, J., additional, Kasapcopur, O., additional, Adrovic, A., additional, Torok, K., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Stanevicha, V., additional, Sztajnbok, F. R., additional, Anton, J., additional, Feldman, B., additional, Alexeeva, E., additional, Katsikas, M., additional, Smith, V., additional, Marrani, E., additional, Kostik, M., additional, Vasquez-Canizares, N., additional, Appenzeller, S., additional, Janarthanan, M., additional, Moll, M., additional, Nemcova, D., additional, Patwardhan, A., additional, Santos, M. J., additional, Sawhney, S., additional, Schonenberg, D., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Costa Reis, P., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Kaiser, D., additional, Lazarevic, D., additional, Minden, K., additional, Nielsen, S., additional, Nuruzzaman, F., additional, Uziel, Y., additional, and Helmus, N., additional

Published
2020
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46. OP0290 EMAPALUMAB (ANTI-INTERFERON-GAMMA MONOCLONAL ANTIBODY) IN PATIENTS WITH MACROPHAGE ACTIVATION SYNDROME (MAS) COMPLICATING SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS (SJIA)

Author

De Benedetti, F., primary, Brogan, P., additional, Bracaglia, C., additional, Pardeo, M., additional, Marucci, G., additional, Sacco, E., additional, Eleftheriou, D., additional, Papadopoulou, C., additional, Grom, A., additional, Quartier, P., additional, Schneider, R., additional, Jacqmin, P., additional, Frederiksen, R., additional, Ballabio, M., additional, and De Min, C., additional

Published
2020
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47. FRI0454 UNDER DETECTION OF INTERSTITIAL LUNG DISEASE IN JUVENILE SYSTEMIC SCLEROSIS (JSSC) UTILIZING PULMONARY FUNCTION TESTS. RESULTS FROM THE JUVENILE SCLERODERMA INCEPTION COHORT

Author

Foeldvari, I., primary, Hinrichs, B., additional, Torok, K., additional, Santos, M. J., additional, Kasapcopur, O., additional, Adrovic, A., additional, Stanevicha, V., additional, Sztajnbok, F. R., additional, Terreri, M. T., additional, Sakamoto, A. P., additional, Alexeeva, E., additional, Anton, J., additional, Katsikas, M., additional, Smith, V., additional, Cimaz, R., additional, Kostik, M., additional, Appenzeller, S., additional, Janarthanan, M., additional, Moll, M., additional, Nemcova, D., additional, Schonenberg, D., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Costa Reis, P., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Lazarevic, D., additional, Minden, K., additional, Nielsen, S., additional, Nuruzzaman, F., additional, Patwardhan, A., additional, Uziel, Y., additional, and Helmus, N., additional

Published
2020
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