CIRCA publications

The members of this consortium have outstanding track records relating to immunodeficiency and other Mendelian disorders for gene discovery and have published extensively in the major journals in the field.

Selected publications

Abolhassani, H, ....Tangye, SG, Su, HC and Pan-Hammarstrom, Qec (in press). "Combined immunodeficiency and EBV-induced B cell malignancy in humans with inherited CD70 deficiency." J. Exp. Med

Boisson, B, Wang, YD, Bosompem, A, Ma, CS, Lim, A, Kochetkov, T, Tangye, SG, Casanova, JL and Conley, ME (2013). "A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells." J Clin Invest 123(11): 4781-4785.10.1172/JCI71927

Buysse, K, Riemersma, M, Powell, G, van Reeuwijk, J, Chitayat, D, Roscioli, T, Kamsteeg, EJ, van den Elzen, C, van Beusekom, E, Blaser, S, Babul-Hirji, R, Halliday, W, Wright, GJ, Stemple, DL, Lin, YY, Lefeber, DJ and van Bokhoven, H (2013). "Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome." Hum Mol Genet 22(9): 1746-1754.10.1093/hmg/ddt021

Byun, M, Ma, CS, Akcay, A, Pedergnana, V, Palendira, U, Myoung, J, Avery, DT, Liu, Y, Abhyankar, A, Lorenzo, L, Schmidt, M, Lim, HK, Cassar, O, Migaud, M, Rozenberg, F, Canpolat, N, Aydogan, G, Fleckenstein, B, Bustamante, J, Picard, C, Gessain, A, Jouanguy, E, Cesarman, E, Olivier, M, Gros, P, Abel, L, Croft, M, Tangye, SG and Casanova, JL (2013). "Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood." J Exp Med 210(9): 1743-1759.10.1084/jem.20130592

Cliffe, ST, Kramer, JM, Hussain, K, Robben, JH, de Jong, EK, de Brouwer, AP, Nibbeling, E, Kamsteeg, EJ, Wong, M, Prendiville, J, James, C, Padidela, R, Becknell, C, van Bokhoven, H, Deen, PM, Hennekam, RC, Lindeman, R, Schenck, A, Roscioli, T and Buckley, MF (2009). "SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway." Hum Mol Genet 18(12): 2257-2265.10.1093/hmg/ddp161

Crequer, A, Troeger, A, Patin, E, Ma, CS, Picard, C, Pedergnana, V, Fieschi, C, Lim, A, Abhyankar, A, Gineau, L, Mueller-Fleckenstein, I, Schmidt, M, Taieb, A, Krueger, J, Abel, L, Tangye, SG, Orth, G, Williams, DA, Casanova, JL and Jouanguy, E (2012). "Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections." J Clin Invest 122(9): 3239-3247.10.1172/JCI62949

Keupp, K, Li, Y, Vargel, I, Hoischen, A, Richardson, R, Neveling, K, Alanay, Y, Uz, E, Elcioglu, N, Rachwalski, M, Kamaci, S, Tuncbilek, G, Akin, B, Grotzinger, J, Konas, E, Mavili, E, Muller-Newen, G, Collmann, H, Roscioli, T, Buckley, MF, Yigit, G, Gilissen, C, Kress, W, Veltman, J, Hammerschmidt, M, Akarsu, NA and Wollnik, B (2013). "Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis." Molecular Genetics & Genomic Medicine 1(4): 223-237.10.1002/mgg3.28

Kouwenhoven, EN, van Heeringen, SJ, Tena, JJ, Oti, M, Dutilh, BE, Alonso, ME, de la Calle-Mustienes, E, Smeenk, L, Rinne, T, Parsaulian, L, Bolat, E, Jurgelenaite, R, Huynen, MA, Hoischen, A, Veltman, JA, Brunner, HG, Roscioli, T, Oates, E, Wilson, M, Manzanares, M, Gomez-Skarmeta, JL, Stunnenberg, HG, Lohrum, M, van Bokhoven, H and Zhou, H (2010). "Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus." PLoS Genet 6(8): e1001065.10.1371/journal.pgen.1001065

Krawitz, PM, Murakami, Y, Hecht, J, Kruger, U, Holder, SE, Mortier, GR, Delle Chiaie, B, De Baere, E, Thompson, MD, Roscioli, T, Kielbasa, S, Kinoshita, T, Mundlos, S, Robinson, PN and Horn, D (2012). "Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation." Am J Hum Genet 91(1): 146-151.10.1016/j.ajhg.2012.05.004

Krawitz, PM, Schweiger, MR, Rodelsperger, C, Marcelis, C, Kolsch, U, Meisel, C, Stephani, F, Kinoshita, T, Murakami, Y, Bauer, S, Isau, M, Fischer, A, Dahl, A, Kerick, M, Hecht, J, Kohler, S, Jager, M, Grunhagen, J, de Condor, BJ, Doelken, S, Brunner, HG, Meinecke, P, Passarge, E, Thompson, MD, Cole, DE, Horn, D, Roscioli, T, Mundlos, S and Robinson, PN (2010). "Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome." Nat Genet 42(10): 827-829.10.1038/ng.653

Kreins, AY, Ciancanelli, MJ, Okada, S, Kong, XF, Ramirez-Alejo, N, Kilic, SS, El Baghdadi, J, Nonoyama, S, Mahdaviani, SA, Ailal, F, Bousfiha, A, Mansouri, D, Nievas, E, Ma, CS, Rao, G, Bernasconi, A, Sun Kuehn, H, Niemela, J, Stoddard, J, Deveau, P, Cobat, A, El Azbaoui, S, Sabri, A, Lim, CK, Sundin, M, Avery, DT, Halwani, R, Grant, AV, Boisson, B, Bogunovic, D, Itan, Y, Moncada-Velez, M, Martinez-Barricarte, R, Migaud, M, Deswarte, C, Alsina, L, Kotlarz, D, Klein, C, Muller-Fleckenstein, I, Fleckenstein, B, Cormier-Daire, V, Rose-John, S, Picard, C, Hammarstrom, L, Puel, A, Al-Muhsen, S, Abel, L, Chaussabel, D, Rosenzweig, SD, Minegishi, Y, Tangye, SG, Bustamante, J, Casanova, JL and Boisson-Dupuis, S (2015). "Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome." The Journal of Experimental Medicine 212(10): 1641-1662.10.1084/jem.20140280

Kuehn, HS, Ouyang, W, Lo, B, Deenick, EK, Niemela, JE, Avery, DT, Schickel, JN, Tran, DQ, Stoddard, J, Zhang, Y, Frucht, DM, Dumitriu, B, Scheinberg, P, Folio, LR, Frein, CA, Price, S, Koh, C, Heller, T, Seroogy, CM, Huttenlocher, A, Rao, VK, Su, HC, Kleiner, D, Notarangelo, LD, Rampertaap, Y, Olivier, KN, McElwee, J, Hughes, J, Pittaluga, S, Oliveira, JB, Meffre, E, Fleisher, TA, Holland, SM, Lenardo, MJ, Tangye, SG and Uzel, G (2014). "Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4." Science 345(6204): 1623-1627.10.1126/science.1255904

Lucas, CL, Kuehn, HS, Zhao, F, Niemela, JE, Deenick, EK, Palendira, U, Avery, DT, Moens, L, Cannons, JL, Biancalana, M, Stoddard, J, Ouyang, W, Frucht, DM, Rao, VK, Atkinson, TP, Agharahimi, A, Hussey, AA, Folio, LR, Olivier, KN, Fleisher, TA, Pittaluga, S, Holland, SM, Cohen, JI, Oliveira, JB, Tangye, SG, Schwartzberg, PL, Lenardo, MJ and Uzel, G (2014). "Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency." Nat Immunol 15(1): 88-97.10.1038/ni.2771

Merico, D, Roifman, M, Braunschweig, U, Yuen, RK, Alexandrova, R, Bates, A, Reid, B, Nalpathamkalam, T, Wang, Z, Thiruvahindrapuram, B, Gray, P, Kakakios, A, Peake, J, Hogarth, S, Manson, D, Buncic, R, Pereira, SL, Herbrick, JA, Blencowe, BJ, Roifman, CM and Scherer, SW (2015). "Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing." Nature communications 6: 8718.10.1038/ncomms9718

Okada, S, Markle, JG, Deenick, EK, Mele, F, Averbuch, D, Lagos, M, Alzahrani, M, Al-Muhsen, S, Halwani, R, Ma, CS, Wong, N, Soudais, C, Henderson, LA, Marzouqa, H, Shamma, J, Gonzalez, M, Martinez-Barricarte, R, Okada, C, Avery, DT, Latorre, D, Deswarte, C, Jabot-Hanin, F, Torrado, E, Fountain, J, Belkadi, A, Itan, Y, Boisson, B, Migaud, M, Arlehamn, CS, Sette, A, Breton, S, McCluskey, J, Rossjohn, J, de Villartay, JP, Moshous, D, Hambleton, S, Latour, S, Arkwright, PD, Picard, C, Lantz, O, Engelhard, D, Kobayashi, M, Abel, L, Cooper, AM, Notarangelo, LD, Boisson-Dupuis, S, Puel, A, Sallusto, F, Bustamante, J, Tangye, SG and Casanova, JL (2015). "IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations." Science 349(6248): 606-613.10.1126/science.aaa4282

Riemersma, M, Mandel, H, van Beusekom, E, Gazzoli, I, Roscioli, T, Eran, A, Gershoni-Baruch, R, Gershoni, M, Pietrokovski, S, Vissers, LE, Lefeber, DJ, Willemsen, MA, Wevers, RA and van Bokhoven, H (2015). "Absence of alpha- and beta-dystroglycan is associated with Walker-Warburg syndrome." Neurology 84(21): 2177-2182.10.1212/WNL.0000000000001615

Riviere, JB, van Bon, BW, Hoischen, A, Kholmanskikh, SS, O'Roak, BJ, Gilissen, C, Gijsen, S, Sullivan, CT, Christian, SL, Abdul-Rahman, OA, Atkin, JF, Chassaing, N, Drouin-Garraud, V, Fry, AE, Fryns, JP, Gripp, KW, Kempers, M, Kleefstra, T, Mancini, GM, Nowaczyk, MJ, van Ravenswaaij-Arts, CM, Roscioli, T, Marble, M, Rosenfeld, JA, Siu, VM, de Vries, BB, Shendure, J, Verloes, A, Veltman, JA, Brunner, HG, Ross, ME, Pilz, DT and Dobyns, WB (2012). "De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome." Nat Genet 44(4): 440-444, S441-442.10.1038/ng.1091

Roscioli, T, Cliffe, ST, Bloch, DB, Bell, CG, Mullan, G, Taylor, PJ, Sarris, M, Wang, J, Donald, JA, Kirk, EP, Ziegler, JB, Salzer, U, McDonald, GB, Wong, M, Lindeman, R and Buckley, MF (2006). "Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease." Nat Genet 38(6): 620-622.ng1780 [pii]

Roscioli, T, Kamsteeg, EJ, Buysse, K, Maystadt, I, van Reeuwijk, J, van den Elzen, C, van Beusekom, E, Riemersma, M, Pfundt, R, Vissers, LE, Schraders, M, Altunoglu, U, Buckley, MF, Brunner, HG, Grisart, B, Zhou, H, Veltman, JA, Gilissen, C, Mancini, GM, Delree, P, Willemsen, MA, Ramadza, DP, Chitayat, D, Bennett, C, Sheridan, E, Peeters, EA, Tan-Sindhunata, GM, de Die-Smulders, CE, Devriendt, K, Kayserili, H, El-Hashash, OA, Stemple, DL, Lefeber, DJ, Lin, YY and van Bokhoven, H (2012). "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan." Nat Genet 44(5): 581-585.10.1038/ng.2253

Tomas-Roca, L, Tsaalbi-Shtylik, A, Jansen, JG, Singh, MK, Epstein, JA, Altunoglu, U, Verzijl, H, Soria, L, van Beusekom, E, Roscioli, T, Iqbal, Z, Gilissen, C, Hoischen, A, de Brouwer, AP, Erasmus, C, Schubert, D, Brunner, H, Perez Aytes, A, Marin, F, Aroca, P, Kayserili, H, Carta, A, de Wind, N, Padberg, GW and van Bokhoven, H (2015). "De novo mutations in PLXND1 and REV3L cause Mobius syndrome." Nature Communications 6: 7199.10.1038/ncomms8199

Vissers, LE, Cox, TC, Maga, AM, Short, KM, Wiradjaja, F, Janssen, IM, Jehee, F, Bertola, D, Liu, J, Yagnik, G, Sekiguchi, K, Kiyozumi, D, van Bokhoven, H, Marcelis, C, Cunningham, ML, Anderson, PJ, Boyadjiev, SA, Passos-Bueno, MR, Veltman, JA, Smyth, I, Buckley, MF and Roscioli, T (2011). "Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice." PLoS Genet 7(9): e1002278.10.1371/journal.pgen.1002278

Wang, Y, Ma, CS, Ling, Y, Bousfiha, A, Camcioglu, Y, Jacquot, S, Payne, K, Crestani, E, Roncagalli, R, Belkadi, A, Kerner, G, Lorenzo, L, Deswarte, C, Chrabieh, M, Patin, E, Vincent, QB, Muller-Fleckenstein, I, Fleckenstein, B, Ailal, F, Quintana-Murci, L, Fraitag, S, Alyanakian, MA, Leruez-Ville, M, Picard, C, Puel, A, Bustamante, J, Boisson-Dupuis, S, Malissen, M, Malissen, B, Abel, L, Hovnanian, A, Notarangelo, LD, Jouanguy, E, Tangye, SG, Beziat, V and Casanova, JL (2016). "Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations." The Journal of Experimental Medicine 213(11): 2413-2435.10.1084/jem.20160576