Bibliographies thématiques / Familial sarcoidosis

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Littérature scientifique sur le sujet « Familial sarcoidosis »

Auteur : Grafiati
Publié le 7 juin 2025
Mis à jour le 2 août 2025

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Articles de revues sur le sujet "Familial sarcoidosis"

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RYBICKI, BENJAMIN A, MICHAEL C IANNUZZI, MARGARET M FREDERICK, et al. "Familial Aggregation of Sarcoidosis." American Journal of Respiratory and Critical Care Medicine 164, no. 11 (2001): 2085–91. http://dx.doi.org/10.1164/ajrccm.164.11.2106001.

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Perng, Reury-Perng, Kun-Ta Chou, Hsi Chu, and Yu-Mei Chung. "Familial Sarcoidosis in Taiwan." Journal of the Formosan Medical Association 106, no. 6 (2007): 499–503. http://dx.doi.org/10.1016/s0929-6646(09)60301-6.

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M., Bouwe Abdou, Cheikhna M., Oubah I., et al. "Pancytopenia Revealing Medullary Granulomatosis : An Unexpected Diagnosis of Systemic Familial Sarcoidosis." International Journal of Clinical Science and Medical Research 05, no. 05 (2025): 106–9. https://doi.org/10.5281/zenodo.15355821.

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Abstract Sarcoidosis is a granulomatous disease of unknown origin, characterized by highly variable clinical presentations. Diagnosis is based on compatible clinical features, the presence of non-caseating granulomas on biopsy, and the exclusion of other causes of granulomatous diseases. Extrapulmonary involvement is rare, particularly bone marrow involvement, which is usually observed in the context of systemic sarcoidosis. Bone marrow sarcoidosis is extremely rare. Familial forms are also uncommon, accounting for less than 5% of cases. This article reports a case of medullary sarcoidosis rev
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Rybicki, Benjamin A., Doug Harrington, Marcie Major, et al. "Heterogeneity of familial risk in sarcoidosis." Genetic Epidemiology 13, no. 1 (1996): 23–33. http://dx.doi.org/10.1002/(sici)1098-2272(1996)13:1<23::aid-gepi3>3.0.co;2-7.

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Uhm, Wan Sik, Chae Man Lim, Woo Sung Kim, Dong Soon Kim, and Won Dong Kim. "Familial Sarcoidosis, The First Report in Korea." Tuberculosis and Respiratory Diseases 41, no. 6 (1994): 644. http://dx.doi.org/10.4046/trd.1994.41.6.644.

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McGrath, D. S. "Epidemiology of familial sarcoidosis in the UK." Thorax 55, no. 9 (2000): 751–54. http://dx.doi.org/10.1136/thorax.55.9.751.

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Fité, E., J. Maña, J. M. Alsina, and J. Morera. "Sarcoidosis: Chest Radiograph Screening of Familial Contacts." Respiration 63, no. 3 (1996): 160–63. http://dx.doi.org/10.1159/000196537.

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Semiz, Hüseyin, and Senol Kobak. "Coexistence of sarcoidosis and Familial Mediterranean Fever." Reumatología Clínica 13, no. 4 (2017): 221–23. http://dx.doi.org/10.1016/j.reuma.2016.05.001.

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Semiz, Hüseyin, and Senol Kobak. "Coexistence of sarcoidosis and Familial Mediterranean Fever." Reumatología Clínica (English Edition) 13, no. 4 (2017): 221–23. http://dx.doi.org/10.1016/j.reumae.2016.05.009.

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Pacheco, Yves, Dominique Valeyre, Thomas El Jammal, et al. "Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses." Cells 10, no. 8 (2021): 1995. http://dx.doi.org/10.3390/cells10081995.

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Sarcoidosis is a multisystem disease characterized by the development and accumulation of granulomas, the hallmark of an inflammatory process induced by environmental and/or infectious and or genetic factors. This auto-inflammatory disease mainly affects the lungs, the gateway to environmental aggressions and viral infections. We have shown previously that genetic predisposition to sarcoidosis occurring in familial cases is related to a large spectrum of pathogenic variants with, however, a clustering around mTOR (mammalian Target Of Rapamycin)-related pathways and autophagy regulation. The co
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Thèses sur le sujet "Familial sarcoidosis"

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Dulac-Laveau, Françoise. "Sarcoi͏̈dose familiale : à propos d'un cas clinique." Montpellier 1, 2000. http://www.theses.fr/2000MON11159.

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PEINNEQUIN, ERIC. "Sarcoidose familiale : a propos de cinq cas dans deux familles." Lyon 1, 1992. http://www.theses.fr/1992LYO1M097.

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Chapitres de livres sur le sujet "Familial sarcoidosis"

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Spickett, Gavin P. "Miscellaneous conditions." In Oxford Handbook of Clinical Immunology and Allergy. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199603244.003.0014.

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Sarcoidosis Amyloidosis AL amyloid AA amyloid Other acquired amyloidoses Familial Mediterranean fever (FMF) TNF-receptor-associated periodic syndrome (TRAPS, familial Hibernian fever) Hyper-IgD syndrome Muckle–Wells and related syndromes Periodic fever with aphthous ulcers, pharyngitis, and cervical adenopathy (PFAPA) Schnitzler’s syndrome Blau syndrome Deficiency of the IL-1 receptor antagonist (DIRA)...
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Clunie, Gavin, Nick Wilkinson, Elena Nikiphorou, and Deepak R. Jadon. "Rare autoinflammatory and miscellaneous diseases." In Oxford Handbook of Rheumatology, edited by Gavin Clunie, Nick Wilkinson, Elena Nikiphorou, and Deepak R. Jadon. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198728252.003.0018.

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This chapter provides a systematic approach to rare autoimmune and autoinflammatory or monogenetic genetic conditions. These conditions typically present with characteristic fevers such as familial Mediterranean fever, TRAPS, cryopyrin-associated periodic syndromes, and adult-onset Still’s disease; characteristic skin manifestations such as panniculitis, neutrophilic dermatoses, and eosinophilic fasciitis; or with refractory synovial disease or polychondritis. Rare multisystem conditions of unknown aetiology including sarcoidosis, Behçet’s disease, amyloidosis, and immunoglobulin G4-related di
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"Rare autoinflammatory and miscellaneous diseases." In Oxford Handbook of Rheumatology, 5th ed., edited by Gavin Clunie, Elena Nikiphorou, Nick Wilkinson, et al. Oxford University PressOxford, 2025. https://doi.org/10.1093/med/9780198885153.003.0018.

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Abstract This chapter provides a systematic approach to rare autoimmune and autoinflammatory or monogenetic genetic conditions. These conditions typically present with characteristic fevers such as familial Mediterranean fever, TRAPS (tumour necrosis factor receptor-associated periodic syndrome), cryopyrin-associated periodic syndromes, and adult-onset Still’s disease; characteristic skin manifestations such as panniculitis, neutrophilic dermatoses, and eosinophilic fasciitis; or with refractory synovial disease or polychondritis. Rare multisystem conditions of unknown aetiology including sarc
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De Broe, Marc E., Channa Jayasumana, Patrick C. D’Haese, Monique M. Elseviers, and Benjamin Vervaet. "Chronic tubulointerstitial nephritis." In Oxford Textbook of Medicine, edited by John D. Firth. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0490.

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Chronic tubulointerstitial nephritis is usually asymptomatic, presenting with slowly progressive renal impairment. Urinalysis may be normal or show low-grade proteinuria (&lt;1.5 g/day) and/or pyuria. Diagnosis depends on renal biopsy, which reveals variable cellular infiltration of the interstitium, tubular atrophy, and fibrosis. There are many causes including sarcoidosis, drugs (prescribed and nonprescribed), irradiation, toxins, and metabolic disorders. Analgesic nephropathy—characterized by renal papillary necrosis and chronic interstitial nephritis and caused by the prolonged and excessi
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Actes de conférences sur le sujet "Familial sarcoidosis"

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Baranova, Olga P., Michal M. Ilkovich, and Alexandra A. Speranskaya. "Variants of the clinical course of familial pulmonary sarcoidosis." In ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.pa1395.

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Calender, Alain, Dominique Valeyre, Thomas Weichhart, et al. "Whole Exome Sequencing in familial sarcoidosis targets pathways which may help early diagnosis of severe forms of sarcoidosis." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.4392.

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Calender, Alain, Yves Pacheco, Pierre Rollat Farnier, et al. "A genetic landscape of familial predisposition to sarcoidosis identified by whole exome sequencing." In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.oa477.

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Zhang, Qian, Hui Huang, and Zuojun Xu. "Whole exome sequencing (WES) of a Chinese Han family with familial pulmonary sarcoidosis." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.1073.

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Hernández, Clara, Rebeca Hernández, Raquel Monroy, Cristina Baz, Patricia Calles, and Beatriz Sánchez. "Sarcoidosis. Clínica y diagnóstico." In XXIX Congreso Nacional de Medicina General y de Familia y V Jornadas SEMG Andalucía. Grupo Pacífico, 2023. http://dx.doi.org/10.48158/semg23-223.

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Celave, María Mercedes, Ana Gallego, Neeta Dulani, Ana Carolina Mello, Salvador Roig, and Juan Manuel Garasa. "Atención temprana mediante pistas radiográficas en sarcoidosis." In 31 Congreso Nacional de Medicina General y de Familia. Grupo Pacífico, 2025. https://doi.org/10.48158/semg25-667.

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Pérez, Cecilia, Patricia Álvarez, Alicia Castro, Francesca Greco, Nuria Villayandre, and Nuria Dopico. "Los tobillos pueden doler en una sarcoidosis." In XXIX Congreso Nacional de Medicina General y de Familia y V Jornadas SEMG Andalucía. Grupo Pacífico, 2023. http://dx.doi.org/10.48158/semg23-434.

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Araújo, Guilherme de Oliveira, José Matheus Espíndola da Silva, José Vitor Barroso Vitoi, Ohana Camila Lins Siqueira Almeida, and Júlio César Queiroz de França. "SÍNDROME DE TAKOTSUBO: RELATO DE CASO." In 1° Congresso Sul Maranhense de Cardiologia. Revista Multidisciplinar em Saúde, 2022. http://dx.doi.org/10.51161/csmc/09.

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INTRODUÇÃO: A síndrome de Takotsubo (STT) é caracterizada pela disfunção transitória do ventrículo esquerdo com ausência de coronariopatia significativa. Ocorrem anormalidades de movimentação de segmentos ventriculares, como hipocinesia, discinesia e acinesia. Estima-se que 90% dos casos ocorra em mulheres pós-menopausa. A sintomatologia assemelha-se à da Síndrome Coronariana Aguda e à do Infarto Agudo do Miocárdio, podendo ser precedida por gatilhos físicos e emocionais negativos ou positivos. METODOLOGIA: Realizou-se a coleta de dados a partir da análise de prontuário eletrônico e anamnese p
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