Publications and Further Research Outputs
Peer-Reviewed Publications
Rensing-Ehl A, Lorenz MR, Führer M, Willenbacher W, Willenbacher E, Sopper S, Abinun M, Maccari ME, König C, Haegele P, Fuchs S, Castro C, Kury P, Pelle O, Klemann C, Heeg M, Thalhammer J, Wegehaupt O, Fischer M, Goldacker S, Schulte B, Biskup S, Chatelain P, Schuster V, Warnatz K, Grimbacher B, Meinhardt A, Holzinger D, Oommen PT, Hinze T, Hebart H, Seeger K, Lehmberg K, Leahy TR, Claviez A, Vieth S, Schilling FH, Fuchs I, Groß M, Rieux-Laucat F, Magerus A, Speckmann C, Schwarz K, Ehl S, ALPS Study Group., Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing., The Journal of allergy and clinical immunology, 153, (1), 2024, p297-308.e12
Fischer M, Olbrich P, Hadjadj J, Aumann V, Bakhtiar S, Barlogis V, von Bismarck P, Bloomfield M, Booth C, Buddingh EP, Cagdas D, Castelle M, Chan AY, Chandrakasan S, Chetty K, Cougoul P, Crickx E, Dara J, Deyà-Martínez A, Farmand S, Formankova R, Gennery AR, Gonzalez-Granado LI, Hagin D, Hanitsch LG, Hanzlikovà J, Hauck F, Ivorra-Cortés J, Kisand K, Kiykim A, Körholz J, Leahy TR, van Montfrans J, Nademi Z, Nelken B, Parikh S, Plado S, Ramakers J, Redlich A, Rieux-Laucat F, Rivière JG, Rodina Y, Júnior PR, Salou S, Schuetz C, Shcherbina A, Slatter MA, Touzot F, Unal E, Lankester AC, Burns S, Seppänen MRJ, Neth O, Albert MH, Ehl S, Neven B, Speckmann C., JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study., The Journal of allergy and clinical immunology, 153, (1), 2024, p275-286.e18
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S, ALPID study group., Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study., The Lancet. Haematology, 11, (2), 2024, pe114-e126
Trayer J, Browne F, O'Sullivan M, Leahy TR., Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome., Journal of clinical immunology, 43, (7), 2023, p1537-1539
Treston B, Petty-Saphon N, Collins A, Murray S, Colgan A, Fitzgerald E, Hassan M, Forde K, O'Farrell A, Sayers G, Linnane N, Franklin O, McMahon C, Leahy TR, Gavin P., Multisystem inflammatory syndrome in the context of paediatric COVID-19 infection in the Republic of Ireland April 2020 to April 2021., Acta Paediatr, 111, (12), 2022, p2344-2351
Clifford D, Moloney F, Leahy TR, Murray DM., Roifman syndrome: a description of further immunological and radiological features. , BMJ case reports, 15, (4), 2022, pe249109
Foley DJ, Connell AR, Gonzalez G, Connell J, Leahy TR, De Gascun C, Hassan J., Mumps-specific IgG, IgG subclasses and neutralization titres to the vaccine and outbreak mumps strains differ in vaccinated healthy controls, breakthrough mumps infection cases and naturally infected individuals., Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology, 157, 2022, p105296
Cox F, Bigley V, Irvine A, Leahy R, Conlon N., PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype., Journal of clinical immunology, 42, (5), 2022, p955-958
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Pr"hová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suegeorgz D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A, STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR., Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome., The Journal of allergy and clinical immunology, 2022, pS0091-6749(22)01182-4
Molloy B, Jones ER, Linhares ND, Buckley PG, Leahy TR, Lynch B, Knerr I, King MD, Gorman KM., Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes., Frontiers in genetics, 13, 2022, p945296
Mulvihill C, Fitzgerald K, O'Regan E, Healy CM, Leahy TR., Successful treatment of oral potentially malignant lesions with ruxolitinib in STAT3 gain-of-function disease., Oral oncology, 132, 2022, p106015
Lum SH, Greener S, Perez-Heras I, Drozdov D, Payne RP, Watson H, Carruthers K, January R, Nademi Z, Owens S, Williams E, Waugh S, Burton-Fanning S, Leahy TR, Cant A, Abinun M, Flood T, Hambleton S, Gennery AR, Slatter M., T-replete HLA-matched grafts vs T-depleted HLA-mismatched grafts in inborn errors of immunity., Blood advances, 6, (4), 2022, p1319-1328
Ghimenton E, Flinn A, Lum SH, Leahy TR, Nademi Z, Owens S, Williams E, Flood T, Hambleton S, Slatter M, Gennery AR., Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency-Improved Outcomes in the Modern Era., Journal of clinical immunology, 2022
Flinn AM, Flood T, Prendiville T, Gennery AR, Leahy TR., Adenosine Deaminase Deficient SCID with Myocardial Hypertrophy., Journal of clinical immunology, 2021
Burns H, Collins A, Marsden P, Flood TJ, Slatter MA, Booth C, Xu-Bayford J, Leahy TR., Severe Combined Immunodeficiency (SCID)-the Irish Experience., Journal of clinical immunology, 2021
Allen J, Zareen Z, Doyle S, Whitla L, Afzal Z, Stack M, Franklin O, Green A, James A, Leahy TR, Quinn S, Elnazir B, Russell J, Paran S, Kiely P, Roche EF, McDonnell C, Baker L, Hensey O, Gibson L, Kelly S, McDonald D, Molloy EJ., Multi-Organ Dysfunction in Cerebral Palsy., Frontiers in pediatrics, 9, 2021, p668544
Kelly E, Leahy R, McDermott M, Connor S, Kyne L, Irvine A, Dvorakova V, Browne F, Watson R., Persistent pruritic subcutaneous nodules at injection sites and other delayed type hypersensitivity reactions to aluminium adsorbed vaccines in Irish children: A case series., Acta Paediatr, 109, (12), 2020, p2692-2693
Connell AR, Connell J, Leahy TR, Hassan J., Mumps Outbreaks in Vaccinated Populations-Is It Time to Re-assess the Clinical Efficacy of Vaccines?, Frontiers in immunology, 11, 2020, p2089
Alsaleemi A, O'Connor C, Irvine AD, Leahy TR., Topical cidofovir for the treatment of recalcitrant viral warts and molluscum contagiosum in Jacobsen syndrome., Pediatric dermatology, 37, (6), 2020, p1191-1192
Ali A, Butler KM, Brenner C, Paran S, Gallagher T, El Delaimi F, Chiodini PL, Leahy TR., Hepatic Cystic Echinococcosis (Hydatid Cyst) in a Six Year Old., Irish medical journal, 113, (4), 2020, p61
Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F., Early-onset autoimmunity associated with SOCS1 haploinsufficiency., Nature communications, 11, (1), 2020, p5341
Eisenberg R, Gans MD, Leahy TR, Gothe F, Perry C, Raffeld M, Xi L, Blackstone S, Ma C, Hambleton S, Milner JD., JAK inhibition in early-onset somatic, nonclonal STAT5B gain-of-function disease., The journal of allergy and clinical immunology. In practice, 2020
Niamh Lagan, Dean Huggard, Fiona Mc Grane, Timothy Ronan Leahy, Orla Franklin, Edna Roche, David Webb, Aengus O'Maricaigh, Des Cox, Afif Elkuffash, Peter Greally, Joanne Balfe, Eleanor J Molloy, Multiorgan involvement and management in children with Down Syndrome, Acta Paediatrica, (1), 2020
Kelleher KJ, Russell J, Killeen OG, Leahy TR., Treatment-recalcitrant laryngeal sarcoidosis responsive to sirolimus., BMJ case reports, 13, (8), 2020
Omer M, Melo AM, Kelly L, Mac Dermott EJ, Leahy TR, Killeen O, Saugstad OD, Savani RC, Molloy EJ., Emerging Role of the NLRP3 Inflammasome and Interleukin-1ß in Neonates., Neonatology, 117, (5), 2020, p545-554
Dean Huggard, Lynne Kelly, Emer Ryan, Fiona McGrane, Niamh Lagan, Edna Roche, Joanne Balfe, T. Ronan Leahy, Orla Franklin, Derek G. Doherty, Eleanor J. Molloy, Increased systemic inflammation in children with Down syndrome, Cytokine, 127, 2020, p154938
Klemann C, Camacho-Ordonez N, Yang L, Eskandarian Z, Rojas-Restrepo JL, Frede N, Bulashevska A, Heeg M, Al-Ddafari MS, Premm J, Seidl M, Ammann S, Sherkat R, Radhakrishnan N, Warnatz K, Unger S, Kobbe R, Hüfner A, Leahy TR, Ip W, Burns SO, Fliegauf M, Grimbacher B., Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2., Frontiers in immunology, 10, 2019, p297
Kaleviste E, Saare M, Leahy TR, Bondet V, Duffy D, Mogensen TH, Jørgensen SE, Nurm H, Ip W, Davies EG, Sauer S, Syvänen AC, Milani L, Peterson P, Kisand K., Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined., European journal of immunology, 49, (5), 2019, p790-800
Al Shehri T, Gilmour K, Gothe F, Loughlin S, Bibi S, Rowan AD, Grainger A, Mohanadas T, Cant AJ, Slatter MA, Hambleton S, Lilic D, Leahy TR., Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib., Journal of clinical immunology, 39, (8), 2019, p776-785
Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL., Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease., The Journal of allergy and clinical immunology, 143, (4), 2019, p1482-1495
McCarthy KN, Leahy TR, Murray DM., Listeria Meningitis in an Immunocompetent Child: Case Report and Literature Review, Irish medical journal, 112, (5), 2019, p939
Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S., An essential role for the Zn2+ transporter ZIP7 in B cell development., Nature Immunology, 2019
Huggard D, Koay WJ, Kelly L, McGrane F, Ryan E, Lagan N, Roche E, Balfe J, Leahy TR, Franklin O, Moreno-Oliveira A, Melo AM, Doherty DG, Molloy EJ., Altered Toll-Like Receptor Signalling in Children with Down Syndrome., Mediators of inflammation, 2019, 2019, p4068734
Huggard D, McGrane F, Lagan N, Roche E, Balfe J, Leahy TR, Franklin O, Moreno A, Melo AM, Doherty DG, Molloy EJ, Altered endotoxin responsiveness in healthy children with Down syndrome., BMC immunology, 2018
Cura Daball P, Ventura Ferreira MS, Ammann S, Klemann C, Lorenz MR, Warthorst U, Leahy TR, Conlon N, Roche J, Soler-Palacín P, Garcia-Prat M, Fuchs I, Fuchs S, Beier F, Brümmendorf TH, Speckmann C, Olbrich P, Neth O, Schwarz K, Ehl S, Rensing-Ehl A., CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome., Immunology and Cell biology, 2018
Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrasakan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL., Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease. , Journal of Allergy and Clinical Immunology, 2018
Al Dhanhani H, Al Shehri T, Lilic D, Buddles M, Kisand K, Maccari ME, Leahy TR., Double Trouble? CMC with a Mutation in both AIRE and STAT1., Journal of Clinical Immunology, 2018
Smyth AE, Kaleviste E, Snow A, Kisand K, McMahon CJ, Cant AJ, Leahy TR, Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation., Journal of clinical immunology, 2018
Kernan RJ, Gavin PJ, Butler KM, Leahy TR, Lynch B, Leonard J., Expanding the Spectrum of Post-malaria Neurologic Syndrome in the Pediatric Population., Pediatric Infectious Disease Journal, 2018
Ma CA, Xi L, Cauff B, DeZure A, Freeman AF, Hambleton S, Kleiner G, Leahy TR, O'Sullivan M, Makiya M, O'Regan G, Pittaluga S, Niemela J, Stoddard J, Rosenzweig SD, Raffeld M, Klion AD, Milner JD., Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea., Blood, 129, (5), 2017, p650-653
Murad A, Leahy TR, Lenane P., Acute Genital Swelling Heralding C1 Esterase Inhibitor Deficiency in a Child., Pediatric dermatology, 34, (5), 2017, pe277-e278
Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ., Clinical spectrum and features of activated phosphoinositide 3-kinase " syndrome: A large patient cohort study., The Journal of allergy and clinical immunology, 139, (2), 2017, p597-606.e4
Davies EG, Cheung M, Gilmour K, Maimaris J, Curry J, Furmanski A, Sebire N, Halliday N, Mengrelis K, Adams S, Bernatoniene J, Bremner R, Browning M, Devlin B, Erichsen HC, Gaspar HB, Hutchison L, Ip W, Ifversen M, Leahy TR, McCarthy E, Moshous D, Neuling K, Pac M, Papadopol A, Parsley KL, Poliani L, Ricciardelli I, Sansom DM, Voor T, Worth A, Crompton T, Markert ML, Thrasher AJ., Thymus transplantation for complete DiGeorge syndrome: European experience., The Journal of allergy and clinical immunology, 140, (6), 2017, p1660-1670.e16
Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B., Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea., Inflammatory bowel diseases, 23, (12), 2017, p2109-2120
Flinn AM, Cant A, Leahy TR, Butler KM, Gennery AR., Autosomal Dominant Hyper IgE Syndrome--Treatment Strategies and Clinical Outcomes., Journal of clinical immunology, 36, (2), 2016, p107-109
Ratjen F, Waters V, Klingel M, McDonald N, Dell S, Leahy TR, Yau Y, Grasemann H., Changes in airway inflammation during pulmonary exacerbations in patients with cystic fibrosis and primary ciliary dyskinesia., The European respiratory journal, 47, (3), 2016, p829-836
Geoghegan S, Walsh A, King MD, Lynch B, Webb D, Twomey E, Ronan Leahy T, Butler K, Gavin P., Anti-N-Methyl-D-Aspartate Receptor Antibody Mediated Neurologic Relapse Post Herpes Simplex Encephalitis: A Case Series., The Pediatric infectious disease journal, 35, (8), 2016, pe258-61
Traynor R, Butler KM, Cant AJ, Leahy TR., Immunodeficiency in a Child with 22q11.2 Microduplication Syndrome., Journal of clinical immunology, 36, (5), 2016, p418-419
Leahy T.R, McManus R, Doherty D.G, Grealy R, Carr M.J, Slattery D, Ryan T, Viral Bronchiolitis is Associated with Altered Cytokine Gene Expression and Lymphocyte Activation Status, Pediatric Infectious Disease Journal, 35, (11), 2016, pp e326-e338
MacMahon JM, Ni Chroinin M, Hourihane J, Leahy TR., X-linked agammaglobulinaemia (XLA) presenting with neutropenia and Pseudomonas aeruginosa cellulitis., Archives of disease in childhood, 101, (12), 2016, p1106
Slatter M, Nademi Z, Leahy TR, Morillo-Gutierrez B, Dunn J, Barge D, Skinner R, Ryan C, Hambleton S, Abinun M, Flood T, Cant A, Gennery A., Haploidentical CD3 TCR"ß and CD19-depleted second stem cell transplant for steroid-resistant acute skin graft versus host disease., The Journal of allergy and clinical immunology, 138, (2), 2016, p603-605.e1
Fitzpatrick P, Leonard J, Twomey E, Malone A, Nademi Z, Jackson M, Abinun M, Leahy TR, Gavin PJ., Severe combined immunodeficiency syndrome presenting with disseminated BCG infection., Archives of disease in childhood, 100, (9), 2015, p891
Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, Butler KM, Morfopoulou S, Brown JR, Hubank M, Connell J, Gavin PJ, McMahon C, Dempsey E, Lynch NE, Jacques TS, Valappil M, Cant AJ, Breuer J, Engelhardt KR, Randall RE, Hambleton S., Human IFNAR2 deficiency: Lessons for antiviral immunity., Science translational medicine, 7, (307), 2015, p307ra154
Yau YC, Ratjen F, Tullis E, Wilcox P, Freitag A, Chilvers M, Grasemann H, Zlosnik J, Speert D, Corey M, Stanojevic S, Matukas L, Leahy TR, Shih S, Waters V., Randomized controlled trial of biofilm antimicrobial susceptibility testing in cystic fibrosis patients., Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 14, (2), 2015, p262-266
Leahy TR, McManus R, Doherty DG, Grealy R, Coulter T, Smyth P, Blackshields G, Sheils O, Carr MJ, Purandare N, Geary M, Hodemaekers HM, Janssen R, Bont L, Slattery D, Ryan T, Interleukin-15 is associated with disease severity in viral bronchiolitis., 2015
Kharya G, Nademi Z, Leahy TR, Dunn J, Barge D, Schulz A, Cant A, Gennery A, Slatter M., Haploidentical T-cell alpha beta receptor and CD19-depleted stem cell transplant for Wiskott-Aldrich syndrome., The Journal of allergy and clinical immunology, 134, (5), 2014, p1199-1201
Salem S, Langlais D, Lefebvre F, Bourque G, Bigley V, Haniffa M, Casanova JL, Burk D, Berghuis A, Butler KM, Leahy TR, Hambleton S, Gros P., Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation., Blood, 124, (12), 2014, p1894-1904
Leahy TR, Goode M, Lynam P, Gavin PJ, Butler KM., HIV virological suppression influences response to the AS03-adjuvanted monovalent pandemic influenza A H1N1 vaccine in HIV-infected children., Influenza and other respiratory viruses, 8, (3), 2014, p360-366
Leahy TR, Smith OP, Bacon CL, Storey L, Lynam P, Gavin PJ, Butler KM, O'Marcaigh AS, Does vaccine dose predict response to the monovalent pandemic H1N1 influenza a vaccine in children with acute lymphoblastic leukemia? A single-centre study., 2013
Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debré M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S., Phosphoinositide 3-kinase " gene mutation predisposes to respiratory infection and airway damage., Science (New York, N.Y.), 342, (6160), 2013, p866-871
Leahy TR, Cohen E, Allen UD., Incomplete Kawasaki disease associated with complicated Streptococcus pyogenes pneumonia: A case report., The Canadian journal of infectious diseases & medical microbiology = Journal canadien des maladies infectieuses et de la microbiologie medicale, 23, (3), 2012, p137-139
Leahy TR, Yau YC, Atenafu E, Corey M, Ratjen F, Waters V., Epidemiology of borderline oxacillin-resistant Staphylococcus aureus in pediatric cystic fibrosis., Pediatric pulmonology, 46, (5), 2011, p489-496
Leahy TR, Punnett AS, Richardson SE, Gharabaghi F, Wadhwa A., Molecular identification of phaeohyphomycosis due to Alternaria infectoria in a patient with acute myeloid leukemia--a case report., Diagnostic microbiology and infectious disease, 66, (3), 2010, p318-321
Bogue CO, Leahy TR, Rea DJ, Bitnun A, Brandao LR, Kahr WH, Jacobson S, Amaral JG, Connolly BL., Idiopathic suppurative pylephlebitis: interventional radiological diagnosis and management., Cardiovascular and interventional radiology, 32, (6), 2009, p1304-1307
Leahy TR, Malikiwi A, Cafferkey M, Butler KM., Imported childhood malaria: the Dublin experience, 1999-2006., Ir J Med Sci, 178, (3), 2009, p329-332
T Leahy, D Webb, H Hoey, K Butler, Varicella Zoster Virus associated acute aseptic meningitis without exanthem in an immunocompetent 14-year-old-boy, The Pediatric Infectious Disease Journal, 27, (4), 2008, p1 - 2
Leahy TR, Gorman W, Murphy J, McMahon C., Haemoglobinopathy screening in an maternity hospital., Irish medical journal, 99, (6), 2006, p184-185
Leahy TR, Downey P, Ramsay B, Philip RK., Erythema induratum of Bazin and episcleritis in a 6 year old girl., Archives of disease in childhood, 90, (11), 2005, p1132
Leahy RT, Philip RK, Gibbons RJ, Fisher C, Suri M, Reardon W., Asplenia in ATR-X syndrome: a second report., American journal of medical genetics. Part A, 139, (1), 2005, p37-39
Non-Peer-Reviewed Publications
Adriana de Jesus, Sofia Torreggiani, Bin Lin, Jacob Mitchell, Eric Karlins, Andrew Oler, Sara Alehashemi, Dana Kahle, Katelin R Honer, Gema Souto Adeva, Eric Hanson, Gina Montealegre Sanchez, Amer Khojah, Timothy Moran, Eveline Wu, Chris Scott, Timothy Ronan Leahy, Emma Jane MacDermott, Orla Killeen, Thaschawee Arkachaisri, Zoran Gucev, Kathryn Phillippi, Vafa Mammadova, Gulnara Nasrullayeva, Raphaela Goldbach-Mansky, Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients., Arthritis and Rheumatology, ACR convergence, Virtual, Nov 5-9, 2020, 72, (S10), Wiley, 2020
Sinead Kenealy, Dina Danso-Abeam, Gareth Brady, Niamh Kerslake, Jennifer Cox, Annmarie Broderick, Emma MacDermott, Michael McDermott, Helen Lachmann, Elizabeth Ryan, Ronan Leahy, Emma M. Creagh , Identification of an NLRP6 mutation in a Paediatric Patient with Autoinflammatory Disease., ESID 2020, Birmingham (virtual), 14-17 October 2020, 2020
Siobhan McCormack, David Orr, Fiona McNicholas, Ronan Leahy, Suzanne Kelleher, GP107 Integrated care for 22q11 deletion syndrome in ireland-meeting children's needs through enhanced care co-ordination, Archives of Disease in Childhood, Europediatrics, Dublin, 13-15 June 2019, 104, (Suppl 3), BMJ, 2019, ppA73 - A74
Jayne MacMahon, Ana Louise Hawke, Emma J MacDermott, Patrick Gavin, Karina Butler, Timothy Ronan Leahy, Orla G Killeen, P373 You give me fever!-the autoinflammatory clinic in an irish tertiary paediatric hospital, Archives of Disease in Childhood, Europediatrics, Dublin, 13-15 June 2019, 104, (Suppl 3), BMJ, 2019, ppA305 - A306
Elizabeth Murphy, Gearoid McGauran, David Coghlan, Ronan Leahy, Claire Purcell, Parechovirus infection as the presenting illness in an infant with SCID, Archives of Disease in Childhood, Europediatrics, Dublin, 13-15 June 2019, 104, (Suppl 3), BMJ, 2019, ppA306 - A307
Karen McCarthy, Eilis Moore, Karina Butler, Ronan Leahy, Patrick Gavin, OC29 Respiratory syncytial virus hospital admission and outcome in ireland among infants born less than 32 weeks gestation in the era of changing palivizumab prescription, Archives of Disease in Childhood, Europediatrics, Dublin, 13-15 June 2019, 104, (Suppl 3), BMJ, 2019, ppA12 - A12
Ana Louise Hawke, Timothy Ronan Leahy, Jayne M MacMahon, Emma Jane MacDermott, Karina Butler, Patrick Gavin, Orla G Killeen, GP194 Periodic fever-the irish PFAPA story so far, Archives of Disease in Childhood, Europediatrics, Dublin, 13-15 June 2019, 104, (Suppl 3), BMJ, 2019, ppA109 - A109
Anne Lawlor, Lorna Kerin, David Orr, Ronan Leahy, Fiona Crotty, Suzanne Kelleher, Sally Lynch, Laura Duggan, Eleanor Molloy, Edel Altman, Aisling O'Dwyer, Christina Cotter, Alana Ward, Fiona Mc Nicholas, Developing integrated care in the context of rare chromosomal conditions: 22q11 Deletion Syndrome; A parent/clinician collaboration., International Journal of Integrated Care, 17, (5), Ubiquity Press, 2017
Human Herpes virus 6/7 in, editor(s)Mike Sharland, Karina Butler, Andrew Cant, Ron Dagan, Graham Davies, Ronald de Groot, David Elliman, Susanna Esposito, Adam Finn, Manolis Galanakis, Carlo Giaquinto, Jim Gray, Paul Heath, Terho Heikkinen, Ulrich Heininger, Philipp Henneke, Irja Lutsar, Hermione Lyall, Federico Martinon Torres, Andrew Pollard, Mary Ramsay, Andrew Riordan, Fernanda Rodrigues, Emmanuel Roilides, Pablo Rojo, Delane Shingadia, Steve Tomlin, and Maria Tsolia , Manual of Childhood Infections; 4th Edition, Oxford University Press, Oxford University Press, 2016, [Ronan Leahy]
Abdullah Al Qayoodhi, Sophie Hambleton, Andrew Hattersley, Andrew Cant, Sarah Flanagan, Karin Engelhardt, David Swan, Joseph Willet, Yaobo Xu, Mauro Koref, Ronan Leahy, Autoimmunity In STAT3 Gain Of Function Mutations; Broadening The Phenotype: P35, Clinical and Experimental Immunology, UKPIN, Liverpool, 2015, 182, 2015
G Kharya, Z Nademi, T Leahy, K Brigham, D Barge, S Hambleton, M Abinun, T Flood, A Cant, M Slatter, A Gennery, Common Gamma chain-and JAK3-deficient SCID, conditioned versus unconditioned transplant: a single centre experience, 40th Annual Meeting of the European Group for Blood and Marrow Transplantation, 40th Annual Meeting of the European Group for Blood and Marrow Transplantation, Newcastle University, 2014
T Leahy, Y Yau, F Ratjen, M Corey, V Waters, MRSA in a Pediatric CF clinic population: clinical and molecular epidemiology, risk factors for colonization, and impact on disease progression. , Pediatric Pulmonary , North American CF Conference, Orlando, Florida, 2008, 43, 2008, pp356-357
Research Expertise
Projects
- Title
- Mumps outbreaks in a highly vaccinated population
- Summary
- This is a prospective observational study using systems immunology techniques to identify serological markers that more reliably define immunity to infection with the mumps virus post vaccination
- Funding Agency
- NCRC
- Date From
- Sept 2018
- Date To
- June 2021
- Title
- Retrospective review of clinical phenotype of Autosomal recessive natural killer and glucocorticoid deficiency (AR-NKGCD aka MCM4 deficiency).
- Summary
- Retrospective study examining the clinical phenotype of patients with AR-NKGCD, an inborn error of immunity associated with deficiency of Natural Killer cells, increased susceptibility to viral infection and adrenocortical insufficiency
- Date From
- January 2021
- Title
- Functional exploration of a novel variant in MAPK1 associated with hypogammaglobulinemia.
- Summary
- Prospective observational study exploring the immunological aspects of a novel GOF mutation in MAPK1 associated with both a Noonan syndrome phenotype and a common variable immunodeficiency phenotype
- Title
- Functional exploration of a novel variant in BCL2L11 associated with hypogammaglobulinemia.
- Summary
- Prospective observational study examining the immunological basis of common variable immunodeficiency seen in a patient with a novel variant in BCL2L11.
- Title
- Investigation of uptake rate of antenatal Tdap vaccine in maternity hospital in Republic of Ireland and factors influencing its uptake
- Summary
- Prospective observational study examining factors associated with uptake of the antenatal Tdap vaccine in pregnancy in Ireland
- Date From
- March 2021
Recognition
Representations
European Society of Immunodeficiency
European Society of Paediatric Infectious Diseases
Irish Association of Allergy and Immunology
Awards and Honours
Best Oral Research Presentation, Annual Research Day, CHI @ Crumlin
Memberships
Royal College of Physicians of Ireland (Paediatrics)
European Society of Immunodeficiency
European Society of Paediatric Infectious Diseases
Irish Association of Allergy and Immunology