Select Publications
Journal articles
2012, 'Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections', Journal of Clinical Investigation, 122, pp. 3239 - 3247, http://dx.doi.org/10.1172/JCI62949
,2012, 'T cell-B cell interactions in primary immunodeficiencies', Annals of the New York Academy of Sciences, 1250, pp. 1 - 13, http://dx.doi.org/10.1111/j.1749-6632.2011.06361.x
,2011, 'A subset of interleukin-21(+) chemokine receptor CCR9(+) T helper cells target accessory organs of the digestive system in autoimmunity', Immunity, 34, pp. 602 - 615, http://www.ncbi.nlm.nih.gov/pubmed/21511186
,2011, 'CXCR5 expressing human central memory CD4 T Cells and their relevance for humoral immune responses', Journal of Immunology, 186, pp. 5556 - 5568, http://www.ncbi.nlm.nih.gov/pubmed/21471443
,2011, 'Dissecting the human immunologic memory for pathogens.', Immunol Rev, 240, pp. 40 - 51, http://dx.doi.org/10.1111/j.1600-065X.2010.01000.x
,2011, 'Regulation of T follicular helper cell formation and function by antigen presenting cells', Current Opinion in Immunology, 23, pp. 111 - 118, http://dx.doi.org/10.1016/j.coi.2010.10.007
,2011, 'The regulation and role of T follicular helper cells in immunity', Immunology, 134, pp. 361 - 367, http://dx.doi.org/10.1111/j.1365-2567.2011.03487.x
,2010, 'Sap is necessary for mediating antigen-specific effector functions of CD4+ AND CD8+ T cells', Pathology, 42, pp. S45 - S45, http://dx.doi.org/10.1097/01268031-201042001-00085
,2009, 'Early commitment of naive human CD4(+) T cells to the T follicular helper (T(FH)) cell lineage is induced by IL-12', Immunology and Cell Biology, 87, pp. 590 - 600, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19721453
,2009, 'Helping the Helpers!', Immunity, 31, pp. 12 - 14
,2009, 'The transcriptional repressor BcI-6 directs T follicular helper cell lineage commitment', Immunity, 31, pp. 457 - 468, http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WSP-4WV0B96-1&_user=37161&_coverDate=09%2F18%2F2009&_rdoc=1&_fmt=high&_orig=search&_sort=d&_docanchor=&view=c&_acct=C000004218&_version=1&_urlVersion=0&_userid=37161&md5=3bf838dca33ce24fdafc5285096743f4
,2009, 'The Transcriptional Repressor Bcl-6 Directs T Follicular Helper Cell Lineage Commitment', Immunity, 31, pp. 457 - 468
,2008, 'Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense', IMMUNOLOGICAL REVIEWS, 226, pp. 29 - 40, http://dx.doi.org/10.1111/j.1600-065X.2008.00698.x
,2008, 'Rapid identification and sorting of viable virus-reactive CD4(+) and CD8(+) T cells based on antigen-triggered CD137 expression.', J Immunol Methods, 339, pp. 23 - 37, http://dx.doi.org/10.1016/j.jim.2008.07.017
,2008, 'Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3', Journal of Experimental Medicine, 205, pp. 1551 - 1557
,2008, 'Epstein-Barr virus persistence in the absence of conventional memory B cells: IgM(+)IgD(+)CD27(+) B cells harbor the virus in X-linked lymphoproliferative disease patients', Blood, 112, pp. 672 - 679, http://dx.doi.org/10.1182/blood-2007-10-116269
,2008, 'IL-21-induced isotype switching to IgG and IgA by human naive B cells is differentially regulated by IL-4', Journal of Immunology, 181, pp. 1767 - 1779
,2008, 'STAT3 is required for IL-21-induced secretion of IgE from human naive B cells', Blood, 112, pp. 1784 - 1793
,2007, 'Follicular CD4+T helper cells induce human B cells to undergo Ig isotype switching and differentiation to Ig-secreting cells through the production of IL-21', JOURNAL OF IMMUNOLOGY, 178, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000209758202295&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2007, 'Cytokine-mediated regulation of human B cell differentiation into Ig-secreting cells: Predominant role of IL-21 produced by CXCR5(+) T follicular helper cells', Journal of Immunology, 179, pp. 8180 - 8190
,2007, 'Development, cytokine profile and function of human interleukin 17-producing helper T cells.', Nat Immunol, 8, pp. 950 - 957, http://dx.doi.org/10.1038/ni1497
,2007, 'Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules', Annual Review of Immunology, 25, pp. 337 - 379
,2006, 'Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP', International Immunology, 18, pp. 1055 - 1065, http://dx.doi.org/10.1093/intimm/dxl039
,2006, 'Selective generation of functional somatically mutated IgM +CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease', Journal of Clinical Investigation, 116, pp. 322 - 333, http://dx.doi.org/10.1007/0-387-34403-9_44
,2005, 'Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells', Journal of Clinical Investigation, 115, pp. 1049 - 1059, http://dx.doi.org/10.1172/JCI200523139
,2005, 'Regulation of NKT cell development by SAP, the protein defective in XLP', Nature Medicine, 11, pp. 340 - 345, http://dx.doi.org/10.1038/nm1189
,2005, 'Molecular and cellular pathogenesis of X-linked lymphoproliferative disease', Immunological Reviews, 203, pp. 180 - 199, http://dx.doi.org/10.1111/j.0105-2896.2005.00230.x
,2004, 'Automatic generation of lymphocyte heterogeneity: Division-dependent changes in the expression of CD27, CCR7 and CD45 by activated human naive CD4+ T cells are independently regulated', Immunology and Cell Biology, 82, pp. 67 - 74, http://dx.doi.org/10.1046/j.0818-9641.2003.01206.x
,2002, 'Isotype switching by human B cells is division-associated and regulated by cytokines', Journal of Immunology, 169, pp. 4298 - 4306, http://dx.doi.org/10.4049/jimmunol.169.8.4298
,1994, 'Juvenile classic Kaposi's sarcoma: a report of two cases, one with family history.', Pediatr Hematol Oncol, 11, pp. 409 - 416, http://dx.doi.org/10.3109/08880019409140540
,1992, 'pp59fyn mutant mice display differential signaling in thymocytes and peripheral T cells.', Cell, 70, pp. 741 - 750, http://dx.doi.org/10.1016/0092-8674(92)90308-y
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Conference Papers
2020, 'Clinicopathologic features of invasive breast cancer (BC) diagnosed in carriers of germline PALB2, CHEK2 and ATM pathogenic variants.', in JOURNAL OF CLINICAL ONCOLOGY, LIPPINCOTT WILLIAMS & WILKINS, ELECTR NETWORK, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), ELECTR NETWORK, 29 May 2020 - 31 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000560368301071&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2020, 'Three Copies of Four Interferon Receptor Genes Underlie Type I Interferonopathies In Down Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CO, Denver, pp. S9 - S9, presented at Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference, CO, Denver, 02 April 2020 - 05 April 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000540191100013&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2019, 'Preventive surgery after multiplex genetic panel testing (MGPT)', in JOURNAL OF CLINICAL ONCOLOGY, AMER SOC CLINICAL ONCOLOGY, IL, Chicago, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), IL, Chicago, 31 May 2019 - 04 June 2019, http://dx.doi.org/10.1200/JCO.2019.37.15_suppl.1525
,2018, 'Promoting breast cancer screening after multiplex genetic panel testing (MGPT) and genetic counseling', in JOURNAL OF CLINICAL ONCOLOGY, AMER SOC CLINICAL ONCOLOGY, http://dx.doi.org/10.1200/JCO.2018.36.15_suppl.1581
,2018, 'Promoting colorectal cancer (CRC) screening after multiplex genetic testing and genetic counseling', in JOURNAL OF CLINICAL ONCOLOGY, AMER SOC CLINICAL ONCOLOGY, http://dx.doi.org/10.1200/JCO.2018.36.15_suppl.1582
,2015, 'Human T Follicular Helper Cells in Primary Immunodeficiency: Quality Just as Important as Quantity', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, GERMANY, Berlin, pp. S40 - S47, presented at 4th International Forum on Immunology Research, GERMANY, Berlin, 07 October 2015 - 10 October 2015, http://dx.doi.org/10.1007/s10875-016-0257-6
,2014, 'Determining the Molecular Requirements for Generating Human T Follicular Helper (Tfh) Cells', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S458 - S459, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100688&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Dual Impairment of IL-17 and IFN-G Immunity Cause Infections by Candida and Mycobacterium in Humans with RORC Deficiency', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S485 - S486, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies (ESID), CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100745&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'INHERITED HUMAN OX40 DEFICIENCY UNDERLYING CLASSIC KAPOSI SARCOMA OF CHILDHOOD', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, pp. 702 - 703, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000520232100025&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Primary Immune Deficiencies Help to Reveal Molecular Requirements for Human T Follicular Helper Cells', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, MD, Baltimore, pp. 360 - 360, presented at Primary Immune Deficiency Diseases North American Conference of the Clinical-Immunology-Society (CIS), MD, Baltimore, 10 April 2014 - 13 April 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000336046800055&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'INHERITED HUMAN OX40 DEFICIENCY UNDERLYING CLASSIC KAPOSI SARCOMA OF CHILDHOOD', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, TURKEY, Antalya, pp. 702 - 703, presented at 100th J Project Meeting, TURKEY, Antalya, 12 March 2014 - 14 March 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000341839800038&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2013, 'IL-27 signals to both B and T cells support germinal center function and the development of GC-driven lupus', in CYTOKINE, ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, CA, San Francisco, pp. 292 - 292, presented at Annual Joint Conference of the International-Cytokine-Society and the International-Society-for-Interferon-and-Cytokine-Research, CA, San Francisco, 29 September 2013 - 03 October 2013, http://dx.doi.org/10.1016/j.cyto.2013.06.210
,2012, 'A NEW PRIMARY IMMUNODEFICIENCY AFFECTING T CELLS IN A PATIENT WITH KAPOSI SARCOMA AND LEISHMANIASIS', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, ITALY, Florence, pp. 384 - 384, presented at 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID), ITALY, Florence, 03 October 2012 - 06 October 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308728900731&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2012, 'PRIMARY IMMUNE DEFICIENCIES REVEAL THE ROLE OF STAT1 AND STAT3 IN THE ACTIVATION AND DIFFERENTIATION OF HUMAN CD8(+) T CELLS', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, ITALY, Florence, pp. 311 - 312, presented at 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID), ITALY, Florence, 03 October 2012 - 06 October 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308728900636&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2008, 'High level EBV persistence in the IgM + IgD+CD27+B cell subset in patients with X-linked lymphoproliferative disease lacking isotype-switched memory B cells', in British Journal of Haematology, Blackwell Publishing Ltd, Oxford, England, pp. 19 - 20, presented at Abstracts of the British Society of Haematology 48th Annual Scientific Meeting, incorporating the 6th Bi-Annual I-BFM Leukaemia Symposium
,2007, 'High level EBV persistence in the IgM(+) IgD(+) CD27(+) B cell subset in patients with X-linked lymphoproliferative disease lacking isotype-switched memory B cells', in BLOOD, AMER SOC HEMATOLOGY, GA, Atlanta, pp. 675A - 675A, presented at 49th Annual Meeting of the American-Society-of-Hematology, GA, Atlanta, 08 December 2007 - 11 December 2007, http://dx.doi.org/10.1182/blood.V110.11.2276.2276
,Conference Abstracts
2022, 'Memory Responses to Severe Acute Respiratory Syndrome Coronavirus 2 Vaccination in Patients with Hyper-Immunoglobulin E Syndromes', in Internal Medicine Journal, Wiley, Vol. 52, pp. 29 - 30, presented at 32nd Annual Conference of the Australasian Society of Clinical Immunology and Allergy (ASCIA), 30 August 2022, http://dx.doi.org/10.1111/imj.96_15894
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