Select Publications
Book Chapters
2020, 'Combined immune deficiencies (CIDs)', in Stiehm's Immune Deficiencies: Inborn Errors of Immunity, pp. 207 - 268, http://dx.doi.org/10.1016/B978-0-12-816768-7.00008-9
,2017, 'Other Well-Defined Immunodeficiencies', in Primary Immunodeficiency Diseases, Springer Berlin Heidelberg, pp. 461 - 517, http://dx.doi.org/10.1007/978-3-662-52909-6_9
,2014, 'Well-Known Combined Immune Deficiency Syndromes', in Stiehm's Immune Deficiencies, pp. 171 - 198, http://dx.doi.org/10.1016/B978-0-12-405546-9.00006-6
,2014, 'Chapter 6 Well-Known Combined Immune Deficiency Syndromes', in Stiehm's Immune Deficiencies, Elsevier, pp. 171 - 198, http://dx.doi.org/10.1016/b978-0-12-405546-9.00006-6
,2007, 'Hepatic veno-occlusive disease with immunodeficiency', in Pagon R (ed.), Gene Reviews, GeneTests, Seattle, pp. 1 - 15
,1998, 'Therapeutic considerations from pharmacokinetics and metabolism: ibuprofen and paracetamol', in Rainsford KD; Powanda MC (ed.), Safety and Efficacy of non-prescription (OTC) analgesics and NSAIDs, Kluwer Academic Publishers, Dordrecht
,1997, 'Strategies in managing HIV', in Stewart GJ (ed.), Managing HIV
,1996, 'The child with recurrent infection', in A practical approach to clinical paediatrics, World Press, Singapore, pp. 112 - 115
,Journal articles
2024, 'Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival', Blood, 143, pp. 2504 - 2516, http://dx.doi.org/10.1182/blood.2023021411
,2024, 'Trends in intravenous immunoglobulin use in New South Wales, Australia', Internal Medicine Journal, 54, pp. 149 - 156, http://dx.doi.org/10.1111/imj.16175
,2023, 'Must Reads for Clinicians Seeking a Better Understanding of Primary Immune Deficiency Disorders and Related Disorders', Journal of Allergy and Clinical Immunology: In Practice, 11, pp. 1703 - 1705, http://dx.doi.org/10.1016/j.jaip.2023.04.004
,2023, 'Advances and Challenges of the Decade: The Ever-Changing Clinical and Genetic Landscape of Immunodeficiency', Journal of Allergy and Clinical Immunology: In Practice, 11, pp. 107 - 115, http://dx.doi.org/10.1016/j.jaip.2022.11.007
,2021, 'Maximizing the Potential of Vaccination', Journal of Allergy and Clinical Immunology: In Practice, 9, pp. 3606 - 3607, http://dx.doi.org/10.1016/j.jaip.2021.07.024
,2021, 'SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression', Proceedings of the National Academy of Sciences of the United States of America, 118, http://dx.doi.org/10.1073/pnas.2110190118
,2021, 'Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency', Journal of Clinical Investigation, 131, http://dx.doi.org/10.1172/JCI142434
,2020, 'Partially hydrolysed, prebiotic supplemented whey formula for the prevention of allergic manifestations in high risk infants: a multicentre double-blind randomised controlled trial (Retraction of Vol 5, art no P30, 2015)', CLINICAL AND TRANSLATIONAL ALLERGY, 10, http://dx.doi.org/10.1186/s13601-020-00356-5
,2020, 'Sesame: An Increasingly Popular Word and Common Food Allergen', Journal of Allergy and Clinical Immunology: In Practice, 8, pp. 1689 - 1691, http://dx.doi.org/10.1016/j.jaip.2020.03.002
,2020, 'Vale Ron Penny AO (1936-2019): pioneer of clinical immunology OBITUARY', CLINICAL & TRANSLATIONAL IMMUNOLOGY, 9, http://dx.doi.org/10.1002/cti2.1119
,2019, 'Molecular Analysis of Goodpasture’s Disease Following Hematopoietic Stem Cell Transplant in a Pediatric Patient, Recalls the Conformeropathy of Wild-Type Anti-GBM Disease', Frontiers in Immunology, 10, http://dx.doi.org/10.3389/fimmu.2019.02659
,2019, 'Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity', Nature Immunology, 20, pp. 1299 - 1310, http://dx.doi.org/10.1038/s41590-019-0492-0
,2019, 'Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients', JCI Insight, 4, http://dx.doi.org/10.1172/jci.insight.127527
,2019, 'Immunogenicity and safety of a quadrivalent meningococcal acwy-tetanus toxoid conjugate vaccine 6 years after menc priming as toddlers', Pediatric Infectious Disease Journal, 38, pp. 643 - 650, http://dx.doi.org/10.1097/INF.0000000000002334
,2019, 'Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency', Journal of Allergy and Clinical Immunology: In Practice, 7, pp. 848 - 855, http://dx.doi.org/10.1016/j.jaip.2018.10.035
,2019, 'Primary Immunodeficiency: New Approaches in Genetic Diagnosis, and Constructing Targeted Therapies', Journal of Allergy and Clinical Immunology: In Practice, 7, pp. 839 - 841, http://dx.doi.org/10.1016/j.jaip.2018.12.019
,2019, 'Phospho-tuning immunity through Denisovan, modern human and mouse TNFAIP3 gene variants', bioRxiv, pp. 589507, http://dx.doi.org/10.1101/589507
,2017, 'A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function', Innate Immunity, 23, pp. 578 - 583, http://dx.doi.org/10.1177/1753425917727063
,2017, 'Haematopoietic stem cell transplantation for primary immunodeficiency syndromes: A 5-year single-centre experience', Journal of Paediatrics and Child Health, 53, pp. 988 - 994, http://dx.doi.org/10.1111/jpc.13643
,2017, 'Haematopoietic stem cell transplantation for severe combined immunodeficiency: Long-term health outcomes and patient perspectives', Journal of Paediatrics and Child Health, 53, pp. 766 - 770, http://dx.doi.org/10.1111/jpc.13560
,2017, 'Dedicator of cytokinesis 8-deficient CD4(+) T cells are biased to a T(H)2 effector fate at the expense of T(H)1 and T(H)17 cells', JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 139, pp. 933 - 949, http://dx.doi.org/10.1016/j.jaci.2016.07.016
,2017, 'Dedicator of cytokinesis 8–deficient CD4+ T cells are biased to a T
2017, 'Early infant male circumcision: Systematic review, risk-benefit analysis, and progress in policy.', World J Clin Pediatr, 6, pp. 89 - 102, http://dx.doi.org/10.5409/wjcp.v6.i1.89
,2017, 'Desensitisation to liposomal amphotericin B', JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 5, pp. 181 - 183, http://dx.doi.org/10.1016/j.jaip.2016.08.006
,2017, 'Infant circumcision: Evidence, policy, and practice', Journal of Paediatrics and Child Health, 53, pp. 93, http://dx.doi.org/10.1111/jpc.13420
,2016, 'Immunisation practices in centres caring for children with perinatally acquired HIV: A call for harmonisation', Vaccine, 34, pp. 5587 - 5594, http://dx.doi.org/10.1016/j.vaccine.2016.09.035
,2016, 'Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases', Immunology and Cell Biology, 94, pp. 994 - 999, http://dx.doi.org/10.1038/icb.2016.58
,2016, 'Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases', IMMUNOLOGY AND CELL BIOLOGY, 94, pp. 994 - 999, http://dx.doi.org/10.1038/icb.2016.58
,2016, 'Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets', Journal of Experimental Medicine, 213, pp. 1589 - 1608, http://dx.doi.org/10.1084/jem.20151467
,2016, 'Prebiotic-supplemented partially hydrolysed cow's milk formula for the prevention of eczema in high-risk infants: A randomized controlled trial', Allergy: European Journal of Allergy and Clinical Immunology, 71, pp. 701 - 710, http://dx.doi.org/10.1111/all.12848
,2016, 'Hypersensitivity Reactions, Dietary Supplements, and the Importance of the Case Report', Journal of Allergy and Clinical Immunology: In Practice, 4, pp. 177 - 178, http://dx.doi.org/10.1016/j.jaip.2015.08.001
,2015, 'Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant', Journal of Clinical Immunology, 35, pp. 604 - 609, http://dx.doi.org/10.1007/s10875-015-0194-9
,2015, 'Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies', Journal of Allergy and Clinical Immunology, 136, pp. 993 - 1006.e1, http://dx.doi.org/10.1016/j.jaci.2015.05.036
,2015, 'RETRACTED ARTICLE: Partially hydrolysed, prebiotic supplemented whey formula for the prevention of allergic manifestations in high risk infants: a multicentre double‐blind randomised controlled trial', Clinical and Translational Allergy, 5, http://dx.doi.org/10.1186/2045-7022-5-s3-p30
,2015, 'A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency', International Journal of Immunogenetics, 42, pp. 11 - 14, http://dx.doi.org/10.1111/iji.12166
,2015, 'The national incidence and clinical picture of SLE in children in Australia - A report from the Australian Paediatric Surveillance Unit', Lupus, 24, pp. 66 - 73, http://dx.doi.org/10.1177/0961203314552118
,, 2015, '8th IAS Conference on HIV Pathogenesis, Treatment and Prevention (IAS 2015).', J Int AIDS Soc, 18, pp. 20479, http://dx.doi.org/10.7448/IAS.18.5.20479
2014, 'Letters to the Editor: The problems with neonatal immune system screening using glutathione levels', Australasian Medical Journal, 7, pp. 388 - 389
,2014, 'The problems with neonatal immune system screening using glutathione levels', AUSTRALASIAN MEDICAL JOURNAL, 7, pp. 388 - 389, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000218161200007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2013, 'IL-21 signalling via STAT3 primes human näive B cells to respond to IL-2 to enhance their differentiation into plasmablasts', Blood, 122, pp. 3940 - 3950, http://dx.doi.org/10.1182/blood-2013-06-506865
,2013, 'Recommendation by a law body to ban infant male circumcision has serious worldwide implications for pediatric practice and human rights', BMC Pediatrics, 13, http://dx.doi.org/10.1186/1471-2431-13-136
,2013, 'Tenofovir-related Fanconi's syndrome and osteomalacia in a teenager with HIV', BMJ Case Reports, http://dx.doi.org/10.1136/bcr-2013-008674
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