CIRCA publications

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

Avery DT, Kane A, Nguyen T, Lau A, Nguyen A, Lenthall H, Payne K, Shi W, Brigden H, French E, Bier J, Hermes JR, Zahra D, Sewell WA, Butt D, Elliott M, Boztug K, Meyts I, Choo S, Hsu P, Wong M, Berglund LJ, Gray P, O'Sullivan M, Cole T, Holland SM, Ma CS, Burkhart C, Corcoran LM, Phan TG, Brink R, Uzel G, Deenick EK, Tangye SG. Germline-activating mutations in PIK3CD compromise B cell development and function. J Exp Med. 2018 Aug 6;215(8):2073-2095. doi: 10.1084/jem.20180010.

Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Sci Immunol. 2018 Jun 15;3(24). pii: eaat4956. doi: 10.1126/sciimmunol.aat4956.

Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY5 Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells. J Allergy Clin Immunol. 2019 Jul;144(1):236-253. doi: 10.1016/j.jaci.2019.01.033.

Dai P, Furlong T, Gracie G, Huang ML, Yang T, Wu KHC, Danta M, Wong M, Williams A, March L, Hetherington M, Heyworth-Smith D, Phan TG. Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation. J Clin Immunol. 2019 May 22. doi: 10.1007/s10875-019-00646-z.

Deenick, E. K.; Morey, A.; Danta, M.; Emmett, L.; Fay, K.; Gracie, G.; Ma, C. S.; Macintosh, R.; Smith, Sabc; Sasson, S. C.; Sewell, W. A.; Cowley, M.; Tangye, S. G.; Kelleher, A. D.; Circa Consortium; Phan, T. G.  Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency. J Clin Immunol. 2018 Feb;38(2):159-162. DOI: 10.1007/s10875-018-0477-z.

Edwards ESJ, Bier J, Cole T, Wong M, Hsu P, Berglund LJ, Boztug K, Gostick E, Price DA, O’Sullivan M, Meyts I, Choo S, Gray P, Holland SM, Deenick EK, Uzel G, Tangye SG. 2019. Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function, and EBV immunity. J Allergy Clin Immunol 2019 143: 276-291.

Frith K, Joly AL, Ma CS, Tangye SG, Lohse Z, Seitz C, Verge CF, Andersson J, Gray P. The FOXP3Δ2 isoform supports Treg cell development and protects against severe IPEX syndrome. J Allergy Clin Immunol. 2019 Jul;144(1):317-320.e8. doi: 10.1016/j.jaci.2019.03.003. Epub 2019 Mar 21.

Moran I, Avery DT, Payne K, Lenthall H, Davies EG, Burns S, Ip W, Oleastro MM, Reisli I, Guner S, Keles S, Notarangelo L, Deenick EK, Goodnow CC, Zahra D, Brink R; CIRCA, Wong M, Tangye SG, Ma CS, Phan TG. B cell-intrinsic requirement for STK4 in humoral immunity in mice and human subjects. J Allergy Clin Immunol. 2019 Jun;143(6):2302-2305. doi: 10.1016/j.jaci.2019.02.010. Epub 2019 Feb 20.

Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS. Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients. JCI Insight 5. pii: 127527. doi: 10.1172/jci.insight.127527.

Siggs OM, Russell A, Singh-Grewal D, Wong M, Chan P, Craig M, O’Loughlin T, Stormon M, Goodnow CC. Preponderance of CTLA4 variation associated with autosomal dominant immune dysregulation in the MYPPPY motif. Front. Immunol (accepted)

NW Zammit, OM Siggs, PE Gray, K Horikawa, DB Langley, SN Walters, SR Daley, C Loetsch, J Warren1, JY Yap, D Cultrone, A Russell, EK Malle, JE Villanueva, MJ Cowley, V Gayevskiy, ME Dinger, R Brink, D Zahra, G Chaudhri, G Karupiah, B Whittle, C Roots, E Bertram, M Yamada, Y Jeelall, A Enders, BE Clifton, PD Mabbitt, CJ Jackson, SR Watson, CN Jenne, LL Lanier, T Wiltshire, MH Spitzer, GP Nolan, F Schmitz, A Aderem, BT Porebski, AM Buckle, DW Abbott, JB Ziegler, ME Craig, P Benitez-Aguirre, J Teo, SG Tangye, C King, M Wong, MP Cox, W Phung, J Tang, W Sandoval, IE Wertz, D Christ, CC Goodnow, ST Grey. Denisovan, modern human, and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity. Nat Immunol (accepted)

Saldanha RG, Balka KR, Davidson S, Wainstein BK, Wong M, Macintosh R, Loo CKC, Weber MA, Kamath V; CIRCA; AADRY, Moghaddas F, De Nardo D, Gray PE, Masters SL. A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy. Front Immunol. 2018 Jul 6;9:1535. doi: 10.3389/fimmu.2018.01535. eCollection 2018.

Gray PE, Shadur B, Russell S, Mitchell R, Buckley M, Gallagher K, Andrews I, Thia K, Trapani JA, Kirk EP, Voskoboinik I. Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D. Front. Immunol 2017 Aug 9;8:944. doi: 10.3389/fimmu.2017.00944. eCollection 2017.