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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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4. Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

Author

Brichova M, Klimova A, Heissigerova J, Svozilkova P, Vaneckova M, Dolezalova P, Nemcova D, Michalickova M, Jedlickova J, Dudakova L, and Liskova P

Subjects
Humans, Arthropathy, Neurogenic genetics, Arthropathy, Neurogenic diagnosis, Central Nervous System Diseases, Exome Sequencing, Hereditary Autoinflammatory Diseases, Lymphedema genetics, Lymphedema diagnosis, Arthritis genetics, Arthritis diagnosis, Mutation, Nod2 Signaling Adaptor Protein genetics, Pedigree, Sarcoidosis genetics, Sarcoidosis diagnosis, Synovitis genetics, Synovitis diagnosis, Uveitis genetics, Uveitis diagnosis
Abstract

The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was performed. The NOD2 mutational hot spot located in exon 4 was Sanger sequenced in all three probands. Two individuals also underwent autoinflammatory disorder gene panel screening, and in one subject, exome sequencing was performed. Blau syndrome presenting as uveitis, skin rush or arthritis was diagnosed in four cases from three families. In two individuals from one family, only camptodactyly was noted, while another member had camptodactyly in combination with non-active uveitis and angioid streaks. One proband developed two attacks of meningoencephalitis attributed to presumed neurosarcoidosis, which is a rare finding in Blau syndrome. The probands from families 1 and 2 carried pathogenic variants in NOD2 (NM_022162.3): c.1001G>A p.(Arg334Gln) and c.1000C>T p.(Arg334Trp), respectively. In family 3, two variants of unknown significance in a heterozygous state were found: c.1412G>T p.(Arg471Leu) in NOD2 and c.928C>T p.(Arg310*) in NLRC4 (NM_001199139.1). In conclusion, Blau syndrome is a phenotypically highly variable, and there is a need to raise awareness about all clinical manifestations, including neurosarcoidosis. Variants of unknown significance pose a significant challenge regarding their contribution to etiopathogenesis of autoinflammatory diseases.

Published
2024
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