Select Publications
Conference Abstracts
2021, 'Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, Vol. 41, pp. S16 - S16, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000639851600023&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2020, 'IRAK4 Deficiency Presenting with Severe Viral Infections and Recurrent Kingella Kingae Sepsis', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CO, Denver, Vol. 40, pp. S74 - S75, 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:000540191100101&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2019, 'The effects of germline STAT3-activating mutations from autoimmunity and lymphoid malignancy on mouse and human T cell development and function', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY, PEOPLES R CHINA, Beijing, Vol. 49, pp. 901 - 901, presented at 17th International Congress of Immunology of the International-Union-of-Immunological-Societies (IUIS), PEOPLES R CHINA, Beijing, 19 October 2019 - 23 October 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000490026902546&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2019, 'EVEROLIMUS-INDUCED REMISSION OF KAPOSI'S SARCOMA SECONDARY TO CRYPTIC CTLA4 SPLICING AND HAPLOINSUFFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 49, pp. 35 - 36, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000488891400106&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2019, 'THE UNWANTED SUPERPOWER', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 49, pp. 41 - 41, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000488891400125&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2018, 'CLINICAL IMPACT OF WHOLE GENOME SEQUENCING ON THE DIAGNOSIS AND MANAGEMENT OF PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES - THE CLINICAL IMMUNOGENOMICS RESEARCH CONSORTIUM AUSTRALIA (CIRCA) EXPERIENCE', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 48, pp. 29 - 29, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000449673000079&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2017, 'COMBINED IMMUNODEFICIENCY AND EPSTEIN-BARR VIRUS-INDUCED B CELL MALIGNANCY IN HUMANS WITH INHERITED CD70 DEFICIENCY', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, WA, Seattle, Vol. 37, pp. 230 - 230, presented at CIS Annual Meeting on Immune Deficiency and Dysregulation North American, WA, Seattle, 23 March 2017 - 26 March 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000396924700093&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'Dynamic changes in gene regulatory networks control subcapsular sinus macrophage fate and function', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 430 - 430, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610401057&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'Effect of gain-of-function mutations in PI3 kinase p110d on the phenotype and function of EBV-specific CD8(+) T-cells', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 980 - 981, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402365&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'IL-15 and TGF-beta promote the selective retention of virus-specific resident memory T cells in human lymphoid organs', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 57 - 57, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400113&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'IL-27 directly influences germinal center B cell development via STAT1', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 1082 - 1082, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402571&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'Interleukin-21 limits regulatory T cell populations by modulating responsiveness to Interleukin-2', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 102 - 102, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400203&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'Intrinsic functional defects in human lymphocytes: insights into disease pathogenesis of primary immunodeficiencies', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 1000 - 1000, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402407&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'Memory B cells develop from low-affinity clones in the germinal center light zone and are identified by CCR6 expression in mice and humans', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 1132 - 1133, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402674&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'Mutations underlying autosomal dominant hyper-IgE syndrome impair distinct stages of STAT3 signaling', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 139 - 140, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400280&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'Mycobacterial disease and myeloid dendritic cells defects in patients with SPPL2a deficiency', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 777 - 778, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610401757&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'Rogue germinal center B cells: unconventional lymphocytes released by FAS inactivation that drive IgE and autoantibody production', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 25 - 26, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400052&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'STAT3 is a critical B-cell intrinsic regulator of functional antibody responses and IgE production', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 849 - 849, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402097&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'Using immunodeficiency patient cells in in vitro cultures to provide insight into T-helper cell differentiation', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 988 - 989, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402382&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'DEFECTS IN HUMAN B-CELL DEVELOPMENT AND DIFFERENTIATION DUE TO DISEASE-CAUSING MUTATIONS IN THE PI3K PATHWAY', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, Boston, MA, Vol. 36, pp. 298 - 299, presented at CIS Annual Meeting on Immune Deficiency and Dysregulation North American Conference, Boston, MA, 14 April 2016 - 17 April 2016, http://dx.doi.org/10.1007/s10875-016-0237-x
,2016, 'INHERITED IL-12R beta 2 DEFICIENCY CAUSES MYCOBACTERIAL SUSCEPTIBILITY', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, MA, Boston, Vol. 36, pp. 270 - 270, presented at CIS Annual Meeting on Immune Deficiency and Dysregulation North American Conference, MA, Boston, 14 April 2016 - 17 April 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000372165300095&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'IPEX ... ARE ALL FEMALE CARRIERS HEALTHY?', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, MA, Boston, Vol. 36, pp. 252 - 252, presented at CIS Annual Meeting on Immune Deficiency and Dysregulation North American Conference, MA, Boston, 14 April 2016 - 17 April 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000372165300050&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2015, 'Impairment of IL-17A/F Immunity to Candida and IFN-g Immunity to Mycobacterium in Patients with RORC Deficiency', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, ARGENTINA, Buenos Aires, Vol. 35, pp. S13 - S14, presented at 4th Meeting of the Latin-American-Society-for-Immunodeficiencies (LASID), ARGENTINA, Buenos Aires, 18 November 2015 - 21 November 2015, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000363977700030&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2015, 'PRELIMINARY DATA FOR mTOR INHIBITOR TREATMENT IN PATIENTS WITH OF GAIN-OF-FUNCTION MUTATIONS IN PIK3CD', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, TX, Houston, Vol. 35, pp. 314 - 315, presented at North American Annual Conference of the Clinical-Immunology-Society (CIS) on Immune Deficiency and Dysregulation, TX, Houston, 09 April 2015 - 12 April 2015, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000351510200043&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Extrapulmonary Non-Tuberculous Mycobacterial Infection in a Child with Autosomal Dominant Hyper IgE Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, Vol. 34, pp. S499 - S500, 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:000347389100775&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'XLP-Associated Cerebral Vasculitis Successfully Treated with Bone Marrow Transplant', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, Prague, CZECH REPUBLIC, Vol. 34, pp. S241 - S241, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, Prague, CZECH REPUBLIC, 29 October 2014 - 01 November 2014, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100212&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
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