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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Bibliographic reference Briggs, Tracy A. ; Rice, Gillian I. ; Adib, Navid ; Ades, Lesley ; Barete, Stephane ; et. al. Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey. In: Journal of Clinical Immunology, Vol. 36, no.3, p. 220-234 (2016)
Permanent URL http://hdl.handle.net/2078.1/183043
  1. Schorr Samuel, Legum Cyril, Ochshorn Miriam, Spondyloenchondrodysplasia : Enchondromatomosis with Severe Platyspondyly in Two Brothers, 10.1148/118.1.133
  2. Renella Raffaele, Schaefer Elke, LeMerrer Martine, Alanay Yasemin, Kandemir Nurgun, Eich Georg, Costa Teresa, Ballhausen Diana, Boltshauser Eugen, Bonafé Luisa, Giedion Andres, Unger Sheila, Superti-Furga Andrea, Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder, 10.1002/ajmg.a.31081
  3. Navarro V., Scott C., Briggs T.A., Barete S., Frances C., Lebon P., Maisonobe T., Rice G.I., Wouters C.H., Crow Y.J., Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation, 10.1002/ajmg.a.32518
  4. Frydman Moshe, Bar-Ziv Jacob, Preminger-Shapiro Rivka, Brezner Amichai, Brand Natan, Ben-Ami Tamar, Lachman Ralph S., Gruber Helen E., Rimoin David L., Possible heterogeneity in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcifications, and chondrocyte inclusions, 10.1002/ajmg.1320360306
  5. Tüysüz Beyhan, Arapoglu Müjde, Üngür Savaş, Spondyloenchondrodysplasia: Clinical variability in three cases : Spondyloenchondrodysplasia, 10.1002/ajmg.a.30078
  6. Roifman CM, Melamed I, A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia : A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia, 10.1034/j.1399-0004.2003.00033.x
  7. Briggs Tracy A, Rice Gillian I, Daly Sarah, Urquhart Jill, Gornall Hannah, Bader-Meunier Brigitte, Baskar Kannan, Baskar Shankar, Baudouin Veronique, Beresford Michael W, Black Graeme C M, Dearman Rebecca J, de Zegher Francis, Foster Emily S, Francès Camille, Hayman Alison R, Hilton Emma, Job-Deslandre Chantal, Kulkarni Muralidhar L, Le Merrer Martine, Linglart Agnes, Lovell Simon C, Maurer Kathrin, Musset Lucile, Navarro Vincent, Picard Capucine, Puel Anne, Rieux-Laucat Frederic, Roifman Chaim M, Scholl-Bürgi Sabine, Smith Nigel, Szynkiewicz Marcin, Wiedeman Alice, Wouters Carine, Zeef Leo A H, Casanova Jean-Laurent, Elkon Keith B, Janckila Anthony, Lebon Pierre, Crow Yanick J, Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature, 10.1038/ng.748
  8. Lausch Ekkehart, Janecke Andreas, Bros Matthias, Trojandt Stefanie, Alanay Yasemin, De Laet Corinne, Hübner Christian A, Meinecke Peter, Nishimura Gen, Matsuo Mari, Hirano Yoshiko, Tenoutasse Sylvie, Kiss Andrea, Machado Rosa Rafael Fabiano, Unger Sharon L, Renella Raffaele, Bonafé Luisa, Spranger Jürgen, Unger Sheila, Zabel Bernhard, Superti-Furga Andrea, Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity, 10.1038/ng.749
  9. Baechler E. C., Batliwalla F. M., Karypis G., Gaffney P. M., Ortmann W. A., Espe K. J., Shark K. B., Grande W. J., Hughes K. M., Kapur V., Gregersen P. K., Behrens T. W., Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus, 10.1073/pnas.0337679100
  10. Liu Yin, Jesus Adriana A., Marrero Bernadette, Yang Dan, Ramsey Suzanne E., Montealegre Sanchez Gina A., Tenbrock Klaus, Wittkowski Helmut, Jones Olcay Y., Kuehn Hye Sun, Lee Chyi-Chia R., DiMattia Michael A., Cowen Edward W., Gonzalez Benito, Palmer Ira, DiGiovanna John J., Biancotto Angelique, Kim Hanna, Tsai Wanxia L., Trier Anna M., Huang Yan, Stone Deborah L., Hill Suvimol, Kim H. Jeffery, St. Hilaire Cynthia, Gurprasad Shakuntala, Plass Nicole, Chapelle Dawn, Horkayne-Szakaly Iren, Foell Dirk, Barysenka Andrei, Candotti Fabio, Holland Steven M., Hughes Jason D., Mehmet Huseyin, Issekutz Andrew C., Raffeld Mark, McElwee Joshua, Fontana Joseph R., Minniti Caterina P., Moir Susan, Kastner Daniel L., Gadina Massimo, Steven Alasdair C., Wingfield Paul T., Brooks Stephen R., Rosenzweig Sergio D., Fleisher Thomas A., Deng Zuoming, Boehm Manfred, Paller Amy S., Goldbach-Mansky Raphaela, Activated STING in a Vascular and Pulmonary Syndrome, 10.1056/nejmoa1312625
  11. Zhang Xianqin, Bogunovic Dusan, Payelle-Brogard Béatrice, Francois-Newton Véronique, Speer Scott D., Yuan Chao, Volpi Stefano, Li Zhi, Sanal Ozden, Mansouri Davood, Tezcan Ilhan, Rice Gillian I., Chen Chunyuan, Mansouri Nahal, Mahdaviani Seyed Alireza, Itan Yuval, Boisson Bertrand, Okada Satoshi, Zeng Lu, Wang Xing, Jiang Hui, Liu Wenqiang, Han Tiantian, Liu Delin, Ma Tao, Wang Bo, Liu Mugen, Liu Jing-Yu, Wang Qing K., Yalnizoglu Dilek, Radoshevich Lilliana, Uzé Gilles, Gros Philippe, Rozenberg Flore, Zhang Shen-Ying, Jouanguy Emmanuelle, Bustamante Jacinta, García-Sastre Adolfo, Abel Laurent, Lebon Pierre, Notarangelo Luigi D., Crow Yanick J., Boisson-Dupuis Stéphanie, Casanova Jean-Laurent, Pellegrini Sandra, Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation, 10.1038/nature13801
  12. Rice Gillian I, Forte Gabriella M A, Szynkiewicz Marcin, Chase Diana S, Aeby Alec, Abdel-Hamid Mohamed S, Ackroyd Sam, Allcock Rebecca, Bailey Kathryn M, Balottin Umberto, Barnerias Christine, Bernard Genevieve, Bodemer Christine, Botella Maria P, Cereda Cristina, Chandler Kate E, Dabydeen Lyvia, Dale Russell C, De Laet Corinne, De Goede Christian G E L, del Toro Mireia, Effat Laila, Enamorado Noemi Nunez, Fazzi Elisa, Gener Blanca, Haldre Madli, Lin Jean-Pierre S-M, Livingston John H, Lourenco Charles Marques, Marques Wilson, Oades Patrick, Peterson Pärt, Rasmussen Magnhild, Roubertie Agathe, Schmidt Johanna Loewenstein, Shalev Stavit A, Simon Rogelio, Spiegel Ronen, Swoboda Kathryn J, Temtamy Samia A, Vassallo Grace, Vilain Catheline N, Vogt Julie, Wermenbol Vanessa, Whitehouse William P, Soler Doriette, Olivieri Ivana, Orcesi Simona, Aglan Mona S, Zaki Maha S, Abdel-Salam Ghada M H, Vanderver Adeline, Kisand Kai, Rozenberg Flore, Lebon Pierre, Crow Yanick J, Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study, 10.1016/s1474-4422(13)70258-8
  13. Crow Yanick J., Chase Diana S., Lowenstein Schmidt Johanna, Szynkiewicz Marcin, Forte Gabriella M.A., Gornall Hannah L., Oojageer Anthony, Anderson Beverley, Pizzino Amy, Helman Guy, Abdel-Hamid Mohamed S., Abdel-Salam Ghada M., Ackroyd Sam, Aeby Alec, Agosta Guillermo, Albin Catherine, Allon-Shalev Stavit, Arellano Montse, Ariaudo Giada, Aswani Vijay, Babul-Hirji Riyana, Baildam Eileen M., Bahi-Buisson Nadia, Bailey Kathryn M., Barnerias Christine, Barth Magalie, Battini Roberta, Beresford Michael W., Bernard Geneviève, Bianchi Marika, Billette de Villemeur Thierry, Blair Edward M., Bloom Miriam, Burlina Alberto B., Luisa Carpanelli Maria, Carvalho Daniel R., Castro-Gago Manuel, Cavallini Anna, Cereda Cristina, Chandler Kate E., Chitayat David A., Collins Abigail E., Sierra Corcoles Concepcion, Cordeiro Nuno J.V., Crichiutti Giovanni, Dabydeen Lyvia, Dale Russell C., D′Arrigo Stefano, De Goede Christian G.E.L., De Laet Corinne, De Waele Liesbeth M.H., Denzler Ines, Desguerre Isabelle, Devriendt Koenraad, Di Rocco Maja, Fahey Michael C., Fazzi Elisa, Ferrie Colin D., Figueiredo António, Gener Blanca, Goizet Cyril, Gowrinathan Nirmala R., Gowrishankar Kalpana, Hanrahan Donncha, Isidor Bertrand, Kara Bülent, Khan Nasaim, King Mary D., Kirk Edwin P., Kumar Ram, Lagae Lieven, Landrieu Pierre, Lauffer Heinz, Laugel Vincent, Piana Roberta La, Lim Ming J., Lin Jean-Pierre S.-M., Linnankivi Tarja, Mackay Mark T., Marom Daphna R., Marques Lourenço Charles, McKee Shane A., Moroni Isabella, Morton Jenny E.V., Moutard Marie-Laure, Murray Kevin, Nabbout Rima, Nampoothiri Sheela, Nunez-Enamorado Noemi, Oades Patrick J., Olivieri Ivana, Ostergaard John R., Pérez-Dueñas Belén, Prendiville Julie S., Ramesh Venkateswaran, Rasmussen Magnhild, Régal Luc, Ricci Federica, Rio Marlène, Rodriguez Diana, Roubertie Agathe, Salvatici Elisabetta, Segers Karin A., Sinha Gyanranjan P., Soler Doriette, Spiegel Ronen, Stödberg Tommy I., Straussberg Rachel, Swoboda Kathryn J., Suri Mohnish, Tacke Uta, Tan Tiong Y., te Water Naude Johann, Wee Teik Keng, Mary Thomas Maya, Till Marianne, Tonduti Davide, Maria Valente Enza, Noel Van Coster Rudy, van der Knaap Marjo S., Vassallo Grace, Vijzelaar Raymon, Vogt Julie, Wallace Geoffrey B., Wassmer Evangeline, Webb Hannah J., Whitehouse William P., Whitney Robyn N., Zaki Maha S., Zuberi Sameer M., Livingston John H., Rozenberg Flore, Lebon Pierre, Vanderver Adeline, Orcesi Simona, Rice Gillian I., Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1, 10.1002/ajmg.a.36887
  14. Tan Eng M., Cohen Alan S., Fries James F., Masi Alfonse T., Mcshane Dennis J., Rothfield Naomi F., Schaller Jane Green, Talal Norman, Winchester Robert J., The 1982 revised criteria for the classification of systemic lupus erythematosus : REVISED CRITERIA FOR SLE, 10.1002/art.1780251101
  15. Dolezalova P, Nailfold capillary microscopy in healthy children and in childhood rheumatic diseases: a prospective single blind observational study, 10.1136/ard.62.5.444
  16. Kulkarni M.L., Baskar Kannan, Kulkarni Preethi M., A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia, 10.1002/ajmg.a.31526
  17. Girschick Hermann, Wolf Christine, Morbach Henner, Hertzberg Christoph, Lee-Kirsch Min Ae, Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene, 10.1186/s12969-015-0035-7
  18. Hayman AR, Jones SJ, Boyde A, Foster D, Colledge WH, Carlton MB, Evans MJ, Cox TM. Mice lacking tartrate-resistant acid phosphatase (ACP5) have disrupted endochondral ossification and mild osteopetrosis. Development. 1996;122:3151–62.
  19. Theofilopoulos Argyrios N., Baccala Roberto, Beutler Bruce, Kono Dwight H., TYPE I INTERFERONS (α/β) IN IMMUNITY AND AUTOIMMUNITY, 10.1146/annurev.immunol.23.021704.115843
  20. Shinohara Mari L, Lu Linrong, Bu Jing, Werneck Miriam B F, Kobayashi Koichi S, Glimcher Laurie H, Cantor Harvey, Osteopontin expression is essential for interferon-α production by plasmacytoid dendritic cells, 10.1038/ni1327
  21. Gustavson K. -H., Holmgren G., Probst F., Spondylometaphyseal dysplasia in two sibs of normal parents, 10.1007/bf00975677
  22. Spranger J., Kemperdieck H., Bakowski H., Opitz J. M., Two peculiar types of enchondromatosis, 10.1007/bf02386711
  23. Sauvegrain J, Maroteaux P, Ribier J, Garel L, Tato L, Rochiccioli P, De Magalhaes J, Duhamel B. Multiple chondroma affecting the spine: spondylo-enchondroplasia and other forms. J Radiol. 1980;61:495–501.
  24. Chagnon S, Lacert P, Blery M. Spondylo-enchondrodysplasia. J Radiol. 1985;66:75–7.
  25. Azouz E. Michel, Case report 418, 10.1007/bf00356960
  26. Uhlmann D., Rupprecht Edgar, Keller Eberhard, Hörmann Dieter, Spondyloenchondrodysplasia: several phenotypes - the same syndrome, 10.1007/s002470050431
  27. Bune A. J., Hayman A. R., Evans M. J., Cox T. M., Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus, 10.1046/j.1365-2567.2001.01145.x
  28. Robinson Dror, Tieder Martin, Copeliovitch Leonel, Halperin Nahum, Spondyloenchondrodysplasia: A rare cause of short-trunk syndrome, 10.3109/17453679108994474
  29. Bhargava R., Leonard N.J., Chan A.K.J., Spranger J., Autosomal dominant inheritance of spondyloenchondrodysplasia, 10.1002/ajmg.a.30732
  30. Menger H, Kruse K, Spranger J, Spondyloenchondrodysplasia., 10.1136/jmg.26.2.93
  31. Ziv Nitsa, Grunebaum Michael, Kornreich Liora, Mimouni Marc, Case report 512, 10.1007/bf02569409
  32. Passwell JH, Robinson G, Lotan D. (1991) Spondyloepiphyseal dysplasia associated with systemic lupus erythematosus: A new syndrome. Progress in immunodeficiency III, edited by Chapel HM, Levinsky RJ, Webster ADB. Royal Society of Medicine Services International Congress and Symposium Series No. 173, Royal Society of Medicine Services Limited.