Dr Desa Lilic
Associate Clinical Lecturer
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2017 - 2018 Associate Clinical Lecturer, Institute of Cellular Medicine, Newcastle University
Desa Lilic, MD, DSc/PhD, FRCPath, Consultant Clinical Immunologist at the University Hospital of North Durham, Senior Clinical Lecturer at Newcastle University and previously Professor of Immunology, University Belgrade.
I moved to Newcastle, UK, in 1993. I am originally from Belgrade, former Yugoslavia, but have lived and trained in many different countries (Lebanon, Chile, USA, Denmark, Venezuela)
Roles and Responsibilities
2012-> Clinical Senior Lecturer / Prunciple Investigator, Institute of Cellular Medicine, Newcastle University
2005 -> Consultant Clinical Immunologist & Head of Service, Immunology Department, University Hospital of North Durham (UHND), County Durham and Darlington NHS Trust, Durham
1996- Honorary Consultant Clinical Immunologist, Royal Victoria Infirmary, Newcastle
MD, MSc, PhD(DSc), FRCPath
2006-2011 Honorary Clinical Senior Lecturer, Institute of Cellular Medicine, Newcastle University
2004-2006 Clinical Senior Lecturer and PI (temporary, p/t, 1d/week), Rheumatology Department, School of Clinical
Medical Sciences, The Medical School,University of Newcastle
2002-2005 Honorary senior Clinical Lecturer, School of Health Sciences
1996-2005 CONSULTANT IMMUNOLOGIST, HoD, Immunology Department
The James Cook University Hospital, South Tees NHS Trust,Middlesbrough
1996-2004 TEMPORARY/HONORARY LECTURER, The Medical School, University of
1993 PROFESSOR IN PATHOPHYSIOLOGY/IMMUNOLOGY, Military Medical Academy & The Medical School University of Belgrade
1990 INTERNAL & EXTERNAL EXAMINER FOR BOARD EXAMINATION IN CLINICAL IMMUNOLOGY, PhD & MSc degrees, Military Medical Academy & The Medical School, University of Belgrade
1988 ASSOCIATE PROFESSOR (SENIOR LECTURER) IN PATHOPHYSIOLOGY & IMMUNOLOGY, Military Medical Academy & The Medical School, University of Belgrade,
1988 CONSULTANT IN CLINICAL IMMUNOLOGY, Military Medical Academy, Belgrade
1985 LECTURER IN IMMUNOLOGY, Military Medical Academy & The Medical School, University of Belgrade
- FRCPath, membership on the basis of published works, November 2004
- Member of the RCPath International Committee
- Member of UK Primary Immunodeficiency Network (UK PIN)
- Member of Committee for Producing Guidelins, UK PIN
- Member of the British Society for Immunology (BSI)/ North East Immunology Club (Chairperson 97/98, 98/-99 & 99/00)
- Member of the British Society for Allergy and Clinical Immunology (BSACI)
- Member of the British Paed Immunol and Infect Diseases Group
- Member of the European Society for Immunodeficiency Diseases (ESID)
Honours and Awards
National Bronze Clinical Excellence Award (2008-2013)
Serbian (mother tongue), english, spanish, danish
In my dual role as an research active academic/principle investigator and a consultant clinical immunologist, I look after patients with Chronic Mucocutaneous Candidiasis (CMC) that are also the focus of my research. These rare patients with this unusual primary immune deficiency (PID) suffer selectively with persistent, disabling candidiasis of the skin and mucosa and a variety of other autoimmune and inflammatory phenomenon which present an unique opportunity for understanding fundamental mechanisms involved in immune mediated diseases in humans. We have recruited a significant number of these rare patients whom we look after in our specialized NHS Candida clinics. In these patients, our research over the last few years has made several significant breakthroughs identifying the underlying pathogenic mechanisms in the 2 largest subgroups of these patients:
· in the subgroup of patients with CMC who have the Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy (APECED) syndrome and the AIRE gene mutation, we reported anti-cytokine antibodies to Th-17 cytokines (IL-17A, IL-17F and IL-22), elucidating for the first time how the autoimmunity links in with impaired handling of Candida
· in the largest subgroup of CMC patients with associated hypothyroidism, we reported for the first time significant defects in Th-17 cell proliferation and IL-17 production which likely underlie the inability of these patients to clear Candida infections. Subsequently, in these same patients, we demonstrated a gain-of-function (GOF) mutation in the STAT1 gene affecting crucial signaling pathways involved in cytokine production.
· Role of AIRE in the induction of tolerogenic dendritic cells
· Molecular / biochemical mechanisms underlying the pathogenesis of GOF-STAT1 disease
· Role of GOF-STAT1 mutations in mediating enhanced effects of type I interferons
· Role of enhanced indoleamine 2.3 dioxygenase (IDO) production in clinical presentation of GOF-STAT1 CMC
· Dr Mario Abinun, Dr Andy Gennery, Consultants Paediatric Immunologists, Great North Children’s Hospital, RVI
· Prof Drew Rowan, Prof David Young, Musculoskeletal Group, Dr Muzz Haniffa, Human DC Group; Jelena Mann and Derek M, Fibrosis Group; Prof Andy Mellor and Henrique de Paula Lemos, Inflammatory Disease and Immunotherapy Laboratory, ICM
· Collaborations across Newcastle University: Institutes of Genetic Medicine, Ageing and Health, Cancer Research, Health and Society; Policy, Ethics And Life Sciences
· UK-wide: Universities of Manchester, Oxford, London
· Internationally: Harvard University, USA; Radboud University, Nijmegen, Netherland; Hopital Necker, Paris, France; Tartu University, Estonia
Impact and Engagement:
Direct benefits to research participants & their families:
· We have produced diagnostic tests for APECED patients and identified the gene mutation in patients with GOF-STAT1 mutations supporting timely treatment decisions, presymptomatic screening and genetic counselling
· Specialist “Candida” clinics for the diagnosis, treatment and follow-up of patients with PIDs and susceptibility to fungal infections (unique in UK)
Extending the benefits to a broader patient base - professional network:
· European Society for Immune Deficiencies (ESID)
· UK Primary Immunodeficiency Network (UK-PIN)
· UK-PID charity (CMC patient information leaflet)
Raising awareness - outreach to primary/secondary care & the public:
· Bubble Foundation
· Jeffrey Modell Foundation
· annual “Graham and jenny Watson” infection and immunity study days
Desa Lilic: Clinical Senior Lecturer and Consultant Immunologist
Chun M Chan: Research Associate
Tariq Al Shehri: PhD student
Ashleigh Rainy: Clinical Scientist trainee
Awards and external recognition
- Debate controversy: Is GOF-STAT1 CMC an interferonopathy? ESID, September 11-14, 2017, invited speaker
- Disease mechanisms underlying CMC, Nijmegen October 25-27, 2017, invited speaker
- Gordon Research Conference (GRC): Immunology of Fungal Infections, January 2017
- III Polish congress on autoimmune, autoinflammatory and primary immune deficiency diseases, Warsaw 19-21 February 2016
- International immunity and autoimmunity workshop in honour of Marija Mostarica & Mija Lukic, Belgrade, May 2015
- British Society of Dermatology, London, January 2015
- J Project 100th Meeting (ESID), Antalya, Turkey, March 2014
- 1st Educational PID Meeting, Sarajevo, October 2013
- BSI summer school, Newcastle, August 2013
- Therapeutic Tolerance Conference, Newcastle, July 2013
- N4i Frontiers Symposium: Immunodeficiency from different angles, Nijmegen June 2013
- Jeffry Modell PID Centre Launch Event, Newcastle November 2012
- Northern Autoimmunity Education & Quality Assurance Group (NAEQAG), NCL, UK, September 2012
- 3rd Symposium on Diagnosis and Therapy of Fungal Diseases, Belgrade, Serbia, March 2012
- UK Primary Immunodeficiency Network (UK-PIN) Forum, Liverpool, UK, December 2011
- Institute of Genetic Medicine, Newcastle University, November 2011
- European Bone Marrow Transplantation Workshop, October 2011
- British Society for Medical Mycology, April 2011
- European Society for Immune Deficiency, XIV Meeting, October 2010
- British Society for Medical Mycology, August 2010
- Primary Immunodeficiency Day. Great Ormond Street London (June 2009)
- Nanjing University of Traditional Chinese Medicine, NCL-UK/China collaboration (May 2009)
- Valedictory Symposium for Professor Nick Willcox, Waldham College, Oxford (January 2009)
- 2nd European Federation for Immunological Societies (EFIS) meeting, Belgrade, Serbia (September 2008)
International / national expert on Chronic Mucocutaneous Candidiasis (CMC)
Grants reviewer (MRC (Senior Clinical Fellowships /MRC Career Development Awards / Research project grants), DoH Grampian NHS, Primary Immunodeficiency Association Charity, etc)
Member of Editorial boards for professional / scientific journals (J Clin Cell Immunol, ISRN Immunology)
Reviewer of scientific papers for professional journals (Blood, J Immunol, J Allergy Clin Immunol, Eur J Immunol, Clin Exp Immunol, Clin Immunol, Infect Immun, etc)
International evaluator for National Project proposals for the Ministry of Science in Serbia
I am invited to write reviews for professional journals and books (Current Opin Microbiol 2012, Curr Opin Immunol 2010, Immunity to Fungal Pathogens 2007, Curr Opinion Infect Dis 2002, J Clin Path 2001)
RCPath representative on interview panels for appointment of Consultant Immunologists
RCPath assessor of national ACCEA awards
1. Teaching on Immunology/Clinical Immunology modules as Fellow of Graduate School (since 1993, P/T 2d/week (4Pas) on voluntary basis):
· Clinical and Paediatric Immunology RCP/RCPath/RCPCH SpR training days (since 2003 annually)
· MRES Applied Immunobology (since 2007 )
· Supervision of Sponsored Visiting Post-doctoral researcher in UK/China scholarships for excellence programme (2007-8)
· MBBS (1995-2003, 6 lectures + 3 seminars, annually)
· Microbiology & Medical Microbiology (since 1997-2002, 9 lectures + 3 seminars, annually)
· Biomedical Sciences (2003-2006 ,9 lectures + seminar, annually)
· Pharmacology (2004-2006 2 lectures + seminar, annually)
· Marking essays and other exam papers over the years for all of the above courses
· Postgraduate student supervisor & assessor (PhD, RAs, Mphil, MD)
· Undergraduate student supervisor (Microbiology & Medical Microbiology laboratory and literature projects; BMedSci / BSc students)
· PhD external examiner
· MBBS internal examiner (vivas)
· BMedSci Honors internal examiner
· As part of the Newcastle University MBBS expansion programme, I co-jointly set up and delivered (2001-2008) a 30 credit MBBS Immunology module at Durham University (repeatedly scored best module of this Stage)
- Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova J-L, Puel A, on behalf of the International STAT1-GOF study group. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients. Blood 2016, 127(25), 3154-3164.
- Crossland KL, Abinun M, Arkwright PD, Cheetham TD, Pearce SH, Hilkens CMU, Lilic D. AIRE is not essential for the induction of human tolerogenic dendritic cells. Autoimmunity 2016, 49(4), 211-218.
- Moorhouse AJ, Renisson C, Raza M, Lilic D, Gow NAR. Clonal strain persistence of Candida albicans isolates from Chronic Mucocutaneous Candidiasis patients. PLoS One 2016, 11(2), e0145888.
- Zheng J, vandeVeerdonk FL, Crossland KL, Smeekens SP, Chan CM, AlShehri T, Abinun M, Gennery AR, Mann J, Lendrem DW, Netea MG, Rowan AD, Lilic D. Gain-of-function STAT1 mutations impair STAT3 activity in patients with Chronic Mucocutaneous Candidiasis (CMC). European Journal of Immunology 2015, 45(10), 2834-2846.
- Higgins E, AlShehri T, McLeer MA, Feighery C, Lilic D, Irvine AD. Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transciption 1 (STAT1) mutation. Journal of Allergy and Clinical Immunology 2015, 135(2), 551-553.
- Zheng J, de Veerdonk FV, Crossland K, Smeekens SP, Abinun M, Gennery AR, Mann J, Lendrem D, Netea MG, Rowan AD, Lilic D. Gain-of-function stat1 mutation impairs stat3 function predisposing to chronic mucocutaneous candidiasis. In: 100th J Project Meeting. 2014, Antalya, TURKEY: Springer.
- Lilic D. Immunity to Yeasts - Candidiasis. In: Dermatology. Belgrade, Serbia: Versalpress, 2014.
- Abinun M, Hodges S, Cheetham T, Ognjanovic M, Hopper N, Burt A, Wood K, Lilic D. Immunomodulatory Therapy for Severe Autoimmune Polyendocrinopathy Type-1 (APS-1). In: 16th Biennial Meeting of the European Society for Immunodeficiences (ESID 2014). 2014, Prague, Czech Republic: Springer.
- Crossland KL, Pearce S, Abinun M, Cheetham T, Hilkens CMU, Lilic D. Role of Aire in the Induction of Human Tolerogenic Dendritic Cells. In: European Society for Immunodeficiencies. 2014, Prague, Czech Republic: Springer.
- Pasic S, Vujic D, Velickovic D, Slavkovic B, Mostarica-Stojkovic M, Minic P, Minic A, Ristic G, Giliani S, Villa A, Sobacchi C, Lilic D, Abinun M. Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience. Journal of Clinical Immunology 2014, 34(3), 304-308.
- Abinun M, Cant A, Strain L, Lilic D. Treatment Options for Severe Immunodeficiency Due to Gain-of-Function STAT-1 Mutation. In: ESID Meeting. 2014, Prague, Czech Republic: Springer.
- Zheng J, Rowan AD, Gennery AR, Abinun M, Lilic D, Primary Immune Deficiency Grp, Inst Cellular Med. Gain-of-function STAT1 mutations alter STAT3 activation in patients with chronic mucocutaneous candidiasis. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer New York LLC.
- Depner M, van de Veerdonk F, Wanders J, Stauss H, Raabe J, Atkinson TP, Schroeder HW, Niehues T, Duckers G, Puck J, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CMA, Carneiro-Sampaio M, Devlin LA, Edgar JD, Gkrania-Klotsas E, Kumararatne D, Doffinger R, Henderson P, Russell RK, Dyrso T, Seneviratne SL, Matthijs G, Abinun M, Gennery A, Johnson M, van der Meer JWM, Netea MG, Lilic D, Grimbacher B. Mutation screening in STAT1, CARD9 and PKC-DELTA in patients with chronic mucocutaneous candidiasis. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
- Lilic D. Unravelling fungal immunity through primary immune deficiencies. Current Opinion in Microbiology 2012, 15(1), 1-2.
- Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LAB, Arkwright PD, Gennery A, Kullberg BJ, Veltman JA, Lilic D, van der Meer JWM, Netea MG. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant Chronic Mucocutaneous Candidiasis. PLoS One 2011, 6(12), e29248.
- van de Veerdonk FL, Plantinga TA, Hoischen A, Smeekens SP, Joosten LAB, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, van der Graaf CAA, Kullberg BJ, van der Meer JWM, Lilic D, Veltman JA, Netea MG. STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis. New England Journal of Medicine 2011, 365, 54-61.
- Kisand K, Lilic D, Casanova J-L, Peterson P, Meager A, Willcox N. Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinic and pathogenetic implications. European Journal of Immunology 2011, 41(6), 1517-1527.
- Ng WF, Tudhope SJ, von Delwig A, Lilic D. Invariant natural killer T (iNKT) cell deficiency in chronic mucocutaneous candidiasis - A consequence or a cause?. Immunology Letters 2011, 135(1-2), 180-183.
- Puel A, Natividad A, Chrabieh M, Döffinger R, Barcenas-Morales G, Picard C, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Blanche S, Fischer AM, Bodemer C, Abel L, Lilic D, Casanova JL. Autoantibodies against IL-17A, IL-17F and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. Journal of Experimental Medicine 2010, 207(2), 291-297.
- Ng WF, von Delwig A, Carmichael AJ, Arkwright PD, Abinun M, Cant AJ, Jolles S, Lilic D. Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Journal of Allergy and Clinical Immunology 2010, 126(5), 1006-1015.
- Puel A, Picard C, Cypowyj S, Lilic D, Abel L, Casanova J. Inborn errors of mucocutaneous immunity to Candida albicans in humans: A role for IL-17 cytokines?. Current Opinion in Immunology 2010, 22(4), 467-474.
- Koch D, Lilic D, Carmichael AJ. Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma. Clinical and Experimental Dermatology 2009, 34(8), e818-e820.
- Lilic D. Immune response to infection. Anaesthesia and Intensive Care Medicine 2009, 10(5), 218-220.
- Hong M, Ryan KR, Arkwright P, Gennery A, Costigan C, Denning D, Cant AJ, Abinun M, Young DA, McConnell V, Spickett GP, Swan DC, Gillespie CS, Lilac D, Dominguez M. Pattern recognition receptor expression is not impaired in patients with chronic mucocutanous candidiasis with or without autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. Clinical and Experimental Immunology 2009, 156(1), 40-51.
- Meloni A, Furcas M, Cetani F, Marcocci C, Falorni A, Perniola R, Pura M, Wolff ASB, Husebye ES, Lilic D, Ryan KR, Gennery AR, Cant AJ, Abinun M, Spickett GP, Arkwright PD, Denning D, Costigan C, Dominguez M, McConnell V, Willcox N, Meager A. Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I. Journal of Clinical Endocrinology & Metabolism 2008, 93(11), 4389-4397.
- Ryan KR, Hong M, Arkwright PD, Gennery AR, Costigan C, Dominguez M, Denning D, McConnell V, Cant AJ, Abinun M, Spickett GP, Lilic D. Impaired dendritic cell maturation and cytokine production in patients with chronic mucocutanous candidiasis with or without APECED. Clinical and Experimental Immunology 2008, 154(3), 406-414.
- Koch D, Lilic D, Carmichael AJ. Autosomal dominant chronic mucocutaneous candidiasis and hypothyroidism complicated by oesophageal carcinoma. In: 87th Annual Meeting of the British Association of Dermatologists. 2007, Birmingham, UK: British Journal of Dermatology, Wiley-Blackwell.
- Lilic D, Haynes K. Candida. In: Brown, GD; Netea, MG, ed. Immunology of Fungal Infections. The Netherlands: Springer, 2007, pp.361-382.
- Smellie WS, Forth JO, McNulty CAM, Hirschowitz L, Lilic D, Gosling R, Bareford D, Logan E, Kerr KG, Spickett GP, Hoffman J, Galloway A, Bloxham CA. Best practice in primary care pathology: Review 2. Journal of Clinical Pathology 2006, 59(2), 113-120.
- Ryan KR, Lawson CA, Lorenzi AR, Arkwright PD, Isaacs JD, Lilic D. CD4+CD25+ T-regulatory cells are decreased in patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy . Journal of Allergy and Clinical Immunology 2005, 116(5), 1158-1159.
- Abinun M, Lilic D, Gagic N, Pasic S. Long-term follow-up of children with primary hypogammaglobulinemia in Yugoslavia. Clinical Immunology 2004, 107(3), 202-203.
- Lilic D, Gravenor I, Robson N, Lammas DA, Drysdale P, Calvert JE, Cant AJ, Abinun M. Deregulated production of protective cytokines in response to Candida albicans infection in patients with chronic mucocutaneous candidiasis. Infection and Immunity 2003, 71(10), 5690-5699.
- Pasic S, Minic A, Minic P, Veljkovic D, Lilic D, Slavkovic B, Pejnovic N, Abinun M. Long-term follow-up and prognosis of chronic granulomatous disease in Yugoslavia: Is there a role for early bone marrow transplantation?. Journal of Clinical Immunology 2003, 23(1), 55-61.
- Lilic D. New perspectives on the immunology of chronic mucocutaneous candidiasis. Current Opinion in Infectious Diseases 2002, 15(2), 143-147.
- Lilic D, Sewell CWA. IgA Deficiency: what we should - or should not - be doing. Journal of Clinical Pathology 2001, 54(5), 337-338.
- Lilic D, Gravenor I. Immunology of chronic mucocutaneous candidiasis. Journal of Clinical Pathology 2001, 54(2), 81-83.
- Wahid ST, Lilic D, Newman PK, Bilous RW. Meningoencephalitis following streptokinase treatment. Journal of Neurology, Neurosurgery and Psychiatry 2001, 70, 132-133.
- Parvaneh N, Lilic D, Roesler J, Niehues T, Casanova JL, Picard C. Chapter 6: Defects in intrinsic and innate immunity: receptors and signalling components. In: Rezai,N;Aghamohammadi,A;Notarangelo,L, ed. Primary Immunodeficiency Diseases – Definition, Diagnosis and Management 2nd Ed. Springer, 2017, pp.339-392. In Preparation.
- Koo S, Kejariwal D, Al-Shehri T, Dhar A, Lilic D. Oesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation. United European Gastroenterology Journal 2017, 5(5), 625-631.
- Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin ODL, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR. Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations. Journal of Allergy and Clinical Immunology 2018, 141(2), 704-717.e5.
- Al Shehri T, Abinun M, Gennery AR, Rice GI, Crow YJ, Lilic D. Is Gain-of-function STAT1 CMC An Interferonopathy?. In: UKPIN 2015. 2015, Wiley-Blackwell.
- Sarkar E, Barge D, Dockey D, Abinun M, Gennery A, Flood T, Blazina S, Lendem D, Lilic D. Long-term Lymphocyte Subset Monitoring In CMC Patients With gain-of-function STAT-1 Mutations. In: UKPIN 2015. 2015, Wiley-Blackwell.
- Abinun M, Lilic D, Devlin L, Christie S, Edgar D, Depner M, Fuchs S, Grimbacher B, Cant A, Flood T, Hambleton S, Gennery A, Nademi Z, Slatter M. Successful Allogeneic Haematopoietic Stem Cell Transplantation In A Child With Severe Immunodeficiency 31-C (OMIM # 614162) Due To STAT1-GOF Mutation. In: UKPIN 2015. 2015, Wiley-Blackwell.
- Higgins E, Al Shehri T, McAleer MA, Feighery C, Lilic D, Irvine AD. Successful treatment of a patient with chronic mucocutaneous candidiasis due to a gain-of-function mutation in signal transducer and activator of transcription-1 with the Janus kinase-1/2 inhibitor ruxolitinib. In: BRITISH JOURNAL OF DERMATOLOGY. 2015, 111 RIVER ST, HOBOKEN 07030-5774, NJ USA: WILEY-BLACKWELL.