Dr. Desa Lilic MD MSc DSc/PhD FRCPath

Consultant and Clinical Senior Lecturer in Immunology

Research Focus

Chronic Mucocutaneous Candidiasis (CMC), gain-of-function STAT1 CMC, Autoimmune Polyendocrinopathy Syndrome type 1 (APS1) aka Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), primary immune deficiency

Scientific Activities

• Dr. Lilic her research proposed and documented novel pathogenic mechanisms and gene defects in the primary immune deficiency (PID) syndrome of Chronic Mucocutaneous Candidiasis (CMC), which are now regularly cited by virtually all authors in this field. Her work is well known nationally and internationally and our most important findings are:

• Identifying an underlying STAT1 mutation in the largest cohort of CMC patients (N Engl J Med 2011)

• Identifying autoantibodies to Th-17 cytokines in patients with Autoimmune Polyendocrinopathy Syndrome (APS-1) and the AIRE gene mutation as the cause of their CMC (J Exp Med 2010)

• In both cases, her findings have been translated into diagnostic NHS tests (genetic diagnosis for CMC and anti-cytokines autoantibodies in patients with APS1)

• As both a scientist and medical doctor, she has set up specialised “Candidiasis” clinics at the Royal Victoria Infirmary, Newcastle (the only such clinic in the UK) where she looks after one of the largest cohorts of these rare patients in the world.

Significant Publications

Toubiana J, Okada S, Hiller J, Oleastro M, Gomez ML, Becerra JCA, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, M5,6,#, Capucine Picard, Laszlo Marodi, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova J-L, Puel A, on behalf of the International STAT1-GOF study group: STAT1 gain of function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients. Blood 2016 127(25):3154-3164 DOI 10.1182/blood-2015-11-679902

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 STAT1 mutation with the JAK1/2 inhibitor ruxolitinib. JACI 2015,135 (2):551-553; PMID 25662309

van de Veerdonk FL, Plantinga TS, HoischenA, 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# (#co-senior author): Mutations in the CC-domain of STAT1 in Autosomal Dominant Chronic Mucocutaneous Candidiasis. New Engl J Med 2011,365 (1):54-61

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Collaborators