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Items: 37

1.

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.

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.

Front Immunol. 2019 Mar 19;10:297. doi: 10.3389/fimmu.2019.00297. eCollection 2019.

2.

Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined.

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.

Eur J Immunol. 2019 May;49(5):790-800. doi: 10.1002/eji.201847955. Epub 2019 Mar 7.

PMID:
30801692
3.

An essential role for the Zn2+ transporter ZIP7 in B cell development.

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.

Nat Immunol. 2019 Mar;20(3):350-361. doi: 10.1038/s41590-018-0295-8. Epub 2019 Feb 4.

PMID:
30718914
4.

Altered endotoxin responsiveness in healthy children with Down syndrome.

Huggard D, McGrane F, Lagan N, Roche E, Balfe J, Leahy TR, Franklin O, Moreno A, Melo AM, Doherty DG, Molloy EJ.

BMC Immunol. 2018 Nov 3;19(1):31. doi: 10.1186/s12865-018-0270-z.

5.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.

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.

J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28.

PMID:
30170123
6.

Double Trouble? CMC with a Mutation in both AIRE and STAT1.

Al Dhanhani H, Al Shehri T, Lilic D, Buddles M, Kisand K, Maccari ME, Leahy TR.

J Clin Immunol. 2018 Aug;38(6):635-637. doi: 10.1007/s10875-018-0536-5. Epub 2018 Jul 27. No abstract available.

PMID:
30054782
7.

Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation.

Smyth AE, Kaleviste E, Snow A, Kisand K, McMahon CJ, Cant AJ, Leahy TR.

J Clin Immunol. 2018 May;38(4):468-470. doi: 10.1007/s10875-018-0513-z. Epub 2018 May 26. No abstract available.

PMID:
29804236
8.

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome.

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.

Immunol Cell Biol. 2018 Nov;96(10):1060-1071. doi: 10.1111/imcb.12169. Epub 2018 Jun 14.

PMID:
29790605
9.

Expanding the Spectrum of Post-malaria Neurologic Syndrome in the Pediatric Population.

Kernan RJ, Gavin PJ, Butler KM, Leahy TR, Lynch B, Leonard J.

Pediatr Infect Dis J. 2018 May;37(5):499-500. doi: 10.1097/INF.0000000000001922. No abstract available.

PMID:
29652743
10.

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

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.

Inflamm Bowel Dis. 2017 Dec;23(12):2109-2120. doi: 10.1097/MIB.0000000000001235.

PMID:
28930861
11.

Acute Genital Swelling Heralding C1 Esterase Inhibitor Deficiency in a Child.

Murad A, Leahy TR, Lenane P.

Pediatr Dermatol. 2017 Sep;34(5):e277-e278. doi: 10.1111/pde.13205. Epub 2017 Jul 21.

PMID:
28730616
12.

Thymus transplantation for complete DiGeorge syndrome: European experience.

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.

J Allergy Clin Immunol. 2017 Dec;140(6):1660-1670.e16. doi: 10.1016/j.jaci.2017.03.020. Epub 2017 Apr 8.

13.

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.

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.

Blood. 2017 Feb 2;129(5):650-653. doi: 10.1182/blood-2016-09-737817. Epub 2016 Dec 12. No abstract available.

14.

Viral Bronchiolitis is Associated With Altered Cytokine Gene Expression and Lymphocyte Activation Status.

Leahy TR, McManus R, Doherty DG, Grealy R, Carr MJ, Slattery D, Ryan T.

Pediatr Infect Dis J. 2016 Nov;35(11):e326-e338.

PMID:
27434830
15.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

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.

J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

16.

X-linked agammaglobulinaemia (XLA) presenting with neutropenia and Pseudomonas aeruginosa cellulitis.

MacMahon JM, Ni Chroinin M, Hourihane J, Leahy TR.

Arch Dis Child. 2016 Dec;101(12):1106. doi: 10.1136/archdischild-2016-311287. Epub 2016 Aug 17. No abstract available.

PMID:
27535475
17.

Immunodeficiency in a Child with 22q11.2 Microduplication Syndrome.

Traynor R, Butler KM, Cant AJ, Leahy TR.

J Clin Immunol. 2016 Jul;36(5):418-9. doi: 10.1007/s10875-016-0286-1. Epub 2016 Apr 20. No abstract available.

PMID:
27098246
18.

Haploidentical CD3 TCRαβ and CD19-depleted second stem cell transplant for steroid-resistant acute skin graft versus host disease.

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.

J Allergy Clin Immunol. 2016 Aug;138(2):603-605.e1. doi: 10.1016/j.jaci.2015.12.1335. Epub 2016 Mar 23. No abstract available.

PMID:
27016800
19.

Autosomal Dominant Hyper IgE Syndrome--Treatment Strategies and Clinical Outcomes.

Flinn AM, Cant A, Leahy TR, Butler KM, Gennery AR.

J Clin Immunol. 2016 Feb;36(2):107-9. doi: 10.1007/s10875-015-0231-8. Epub 2016 Jan 7. No abstract available.

PMID:
26743515
20.

Changes in airway inflammation during pulmonary exacerbations in patients with cystic fibrosis and primary ciliary dyskinesia.

Ratjen F, Waters V, Klingel M, McDonald N, Dell S, Leahy TR, Yau Y, Grasemann H.

Eur Respir J. 2016 Mar;47(3):829-36. doi: 10.1183/13993003.01390-2015. Epub 2015 Nov 19.

21.

Interleukin-15 is associated with disease severity in viral bronchiolitis.

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.

Eur Respir J. 2016 Jan;47(1):212-22. doi: 10.1183/13993003.00642-2015. Epub 2015 Nov 5.

22.

Human IFNAR2 deficiency: Lessons for antiviral immunity.

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.

Sci Transl Med. 2015 Sep 30;7(307):307ra154. doi: 10.1126/scitranslmed.aac4227.

23.

Severe combined immunodeficiency syndrome presenting with disseminated BCG infection.

Fitzpatrick P, Leonard J, Twomey E, Malone A, Nademi Z, Jackson M, Abinun M, Leahy TR, Gavin PJ.

Arch Dis Child. 2015 Sep;100(9):891. doi: 10.1136/archdischild-2015-308598. Epub 2015 Jun 30. No abstract available.

PMID:
26130382
24.

Randomized controlled trial of biofilm antimicrobial susceptibility testing in cystic fibrosis patients.

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.

J Cyst Fibros. 2015 Mar;14(2):262-6. doi: 10.1016/j.jcf.2014.09.013. Epub 2014 Oct 30.

25.

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation.

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.

Blood. 2014 Sep 18;124(12):1894-904.

26.

Haploidentical T-cell alpha beta receptor and CD19-depleted stem cell transplant for Wiskott-Aldrich syndrome.

Kharya G, Nademi Z, Leahy TR, Dunn J, Barge D, Schulz A, Cant A, Gennery A, Slatter M.

J Allergy Clin Immunol. 2014 Nov;134(5):1199-201. doi: 10.1016/j.jaci.2014.04.041. Epub 2014 Jun 27. No abstract available.

PMID:
24985403
27.

HIV virological suppression influences response to the AS03-adjuvanted monovalent pandemic influenza A H1N1 vaccine in HIV-infected children.

Leahy TR, Goode M, Lynam P, Gavin PJ, Butler KM.

Influenza Other Respir Viruses. 2014 May;8(3):360-6. doi: 10.1111/irv.12243. Epub 2014 Feb 18.

28.

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

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.

Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.

29.

Incomplete Kawasaki disease associated with complicated Streptococcus pyogenes pneumonia: A case report.

Leahy TR, Cohen E, Allen UD.

Can J Infect Dis Med Microbiol. 2012 Fall;23(3):137-9.

30.

Does vaccine dose predict response to the monovalent pandemic H1N1 influenza a vaccine in children with acute lymphoblastic leukemia? A single-centre study.

Leahy TR, Smith OP, Bacon CL, Storey L, Lynam P, Gavin PJ, Butler KM, O'Marcaigh AS.

Pediatr Blood Cancer. 2013 Oct;60(10):1656-61. doi: 10.1002/pbc.24589. Epub 2013 May 16.

PMID:
23682005
31.

Epidemiology of borderline oxacillin-resistant Staphylococcus aureus in pediatric cystic fibrosis.

Leahy TR, Yau YC, Atenafu E, Corey M, Ratjen F, Waters V.

Pediatr Pulmonol. 2011 May;46(5):489-96. doi: 10.1002/ppul.21383. Epub 2011 Feb 17.

PMID:
21337531
32.

Molecular identification of phaeohyphomycosis due to Alternaria infectoria in a patient with acute myeloid leukemia--a case report.

Leahy TR, Punnett AS, Richardson SE, Gharabaghi F, Wadhwa A.

Diagn Microbiol Infect Dis. 2010 Mar;66(3):318-21. doi: 10.1016/j.diagmicrobio.2009.09.019. Epub 2009 Nov 5.

PMID:
19896319
33.

Idiopathic suppurative pylephlebitis: interventional radiological diagnosis and management.

Bogue CO, Leahy TR, Rea DJ, Bitnun A, Brandao LR, Kahr WH, Jacobson S, Amaral JG, Connolly BL.

Cardiovasc Intervent Radiol. 2009 Nov;32(6):1304-7. doi: 10.1007/s00270-009-9586-7. Epub 2009 May 16.

PMID:
19449066
34.

Imported childhood malaria: the Dublin experience, 1999-2006.

Leahy TR, Malikiwi A, Cafferkey M, Butler KM.

Ir J Med Sci. 2009 Sep;178(3):329-32. doi: 10.1007/s11845-009-0343-3. Epub 2009 May 2.

PMID:
19408040
35.

Varicella zoster virus associated acute aseptic meningitis without exanthem in an immunocompetent 14-year-old boy.

Leahy TR, Webb DW, Hoey H, Butler KM.

Pediatr Infect Dis J. 2008 Apr;27(4):362-3. doi: 10.1097/INF.0b013e318160ee11.

PMID:
18316987
36.

Haemoglobinopathy screening in an maternity hospital.

Leahy TR, Gorman W, Murphy J, McMahon C.

Ir Med J. 2006 Jun;99(6):184-5.

PMID:
16921827
37.

Erythema induratum of Bazin and episcleritis in a 6 year old girl.

Leahy TR, Downey P, Ramsay B, Philip RK.

Arch Dis Child. 2005 Nov;90(11):1132. No abstract available.

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