Staff Profile
Dr Mario Abinun
Associate Lecturer
- Email: [email protected]
- Telephone: +44 (0) 191 233 6161
- Fax: +44 (0) 191 2820497
- Address: Children's BMT Unit
Great North Children's Hospital
Royal Victoria Infirmary
Queen Victoria Road
Newcastle upon Tyne
NE1 4LP
Clinical research:
Underlying causes of and treatments for rare Inborn Errors of Immunity (IEI), including PIDs, autoimmune, and autoinflammatory disorders in children, integrated within the NHS centre of excellence and part of national (UK Primary Immunodeficiency Network, UKPIN) and international collaborative network (European Society for Immunodeficiency/ESID, European Group for Bone Marrow Transplantation/EBMT, European Society for Pediatric Infectious Diseases/ESPID, Pediatric Rheumatology European Society/PRES).
Co-founder (with Desa Lilic) - Serbian Clinical Immunology Fund (https://www.ncl.ac.uk/medical-sciences/research/serbian-clinical-immunology-fund), with aims to enable and enhance the practice of clinical immunology in Serbia by supporting projects and/or educational activities of reciprocal exchange between candidates from Serbia and Newcastle, UK.
Current posts since retirement from the NHS in 2017:
Associate (Honorary) Lecturer, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University
Emeritus Consultant in Paediatric Immunology, Great North Children's Hospital (GNCH), Newcastle upon Tyne Hospitals NHS FT
Background:
MD (1976), Medical School, Sarajevo University. Board exam in Paediatrics (1983), MSc (1988) and DSc(PhD) (1996), Medical School, Belgrade University. British Council/WHO Visiting Fellowship in Paediatric Immunology (1986), Great Ormond Street Hospital, and Institute of Child Health, London.
Consultant in Paediatric Immunology (1987), Head of the Department of Clinical Paediatric Immunology, Mother and Child Health Institute, Belgrade (1989-92), Assistant Professor of Paediatrics, Medical School, Belgrade University (1991-92). Together with D Lilic, leading the team performing the 1st T cell depleted haematopoietic stem cell transplantation (HSCT) for severe combined immunodeficiency (SCID) in former Yugoslavia (1990).
Invited to join AJ Cant (1992) in the national Supra-regional HSCT Unit for SCID/primary immunodeficiency (PID) at Newcastle General Hospital. Consultant in Paediatric Immunology and Infectious Diseases, and Honorary Clinical Senior Lecturer (1992-2017), FRCPCH (1997) and Honorary FRCP (2004). I had a pivotal role in building and developing the team/Unit to become one of the leading in Europe, and as a national/international lead I developed pioneering HSCT for treatment of severe autoimmune, rheumatological diseases in children.
Google Scholar: Click here.
Research Interests and areas of expertise
Primary Immunodeficiencies (PID)
Haematopoietic Stem Cell Transplantation (HSCT)
Paediatric Rheumatology/Autoimmune/Autoinflammatory Disorders
Research Roles
Collaborator in multi-centre, national and international projects; planning, supervising and data evaluation; writing papers.
Postgraduate Supervision
Clinical research, MD/PhD theses
Postgraduate Teaching
Paediatric immunology and rheumatology (RCPCH; RCP; RCPath).
- Cheetham TD, Cole M, Abinun M, Allahabadia A, Barratt T, Davies JH, Dimitri P, Drake A, Mohamed Z, Murray RD, Steele CA, Zammitt N, Carnell S, Prichard J, Watson G, Hambleton S, Matthews JNS, Pearce SHS. Adjuvant Rituximab-Exploratory Trial in Young People With Graves Disease. Journal of Clinical Endocrinology and Metabolism 2022, 107(3), 743-754.
- Palagano E, Slatter MA, Uva P, Menale C, Villa A, Abinun M, Sobacchi C. Corrigendum to "Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene" [Bone 97. 2017 Apr:126–129. doi:10.1016/j.bone.2017.01.012.] (Bone (2017) 97 (126–129), (S8756328217300121), (10.1016/j.bone.2017.01.012)). Bone 2022, 158, 116345.
- Tsilifis C, Lum SH, Nademi Z, Hambleton S, Flood TJ, Williams EJ, Owens S, Abinun M, Cant AJ, Slatter MA, Gennery AR. TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency. Journal of Clinical Immunology 2022, 42, 851-858.
- Schim van der Loeff I, Sprenkeler EGG, Tool ATJ, Abinun M, Grainger A, Engelhardt KR, van Houdt M, Janssen H, Kuijpers TW, Hambleton S. Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2. Journal of Allergy and Clinical Immunology 2021, 147(6), 2381-2385.e2.
- Abinun M, Slatter MA. Haematopoietic stem cell transplantation in paediatric rheumatic disease. Current Opinion in Rheumatology 2021, 33(5), 387-397.
- Harrison SC, Tsilifis C, Slatter MA, Nademi Z, Worth A, Veys P, Ponsford MJ, Jolles S, Al-Herz W, Flood T, Cant AJ, Doffinger R, Barcenas-Morales G, Carpenter B, Hough R, Haraldsson Á, Heimall J, Grimbacher B, Abinun M, Gennery AR. Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome. Journal of Clinical Immunology 2021, 41, 934-943.
- Laberko A, Burlakov V, Maier S, Abinun M, Skinner R, Kozlova A, Suri D, Lehmberg K, Muller I, Balashov D, Novichkova G, Holzinger D, Gennery AR, Shcherbina A. HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. Journal of Allergy and Clinical Immunology 2021, 148(1), 250-255.e1.
- Radwan N, Nademi Z, Lum SH, Flood T, Abinun M, Owens S, Williams E, Gennery AR, Hambleton S, Slatter MA. Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases. Journal of Clinical Immunology 2021, 41, 1774-1780.
- Lum SH, Elfeky R, Achini FR, Margarit-Soler A, Cinicola B, Perez-Heras I, Nademi Z, Flood T, Cheetham T, Worth A, Qasim W, Amin R, Rao K, Chiesa R, Bredius RGM, Amrolia P, Abinun M, Hambleton S, Veys P, Gennery AR, Lankester A, Slatter M. Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency. Journal of Clinical Immunology 2021, 41, 171-184.
- Di Zanni E, Palagano E, Lagostena L, Strina D, Rehman A, Abinun M, De Somer L, Martire B, Brown J, Kariminejad A, Balasubramanian S, Baynam G, Gurrieri F, Pisanti MA, De Maggio I, Abboud MR, Chiesa R, Burren CP, Villa A, Sobacchi C, Picollo A. Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants. Journal of Bone and Mineral Research 2021, 36(3), 531-545.
- Ponsford MJ, Clark J, Mock J, Abinun M, Carne E, El-Shanawany T, Williams PE, Choudhury A, Freeman AF, Gennery AR, Jolles S. Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome. Frontiers in Pediatrics 2020, 8, 575.
- Lum SH, Anderson C, McNaughton P, Engelhardt K, MacKenzie B, Watson H, Al-Mousa H, Al-Herz W, Al-Saud B, Mohammed R, ALZahrani D, Alghamdi HA, Goronfolah L, Nademi Z, Habibolla S, Flinn AM, Shillitoe B, Owens S, Williams E, Emonts M, Hambleton S, Abinun M, Flood T, Cant A, Gennery AR, Slatter M. Improved transplant survival and long-term disease outcome in children with MHC class II deficiency. Blood 2020, 135(12), 954-973.
- Lum SH, Selvarajah S, Deya-Martinez A, McNaughton P, Sobh A, Waugh S, Burton-Fanning S, Newton L, Gandy J, Nademi Z, Owens S, Williams E, Emonts M, Flood T, Cant A, Abinun M, Hambleton S, Gennery AR, Slatter M. Outcome of autoimmune cytopenia after hematopoietic cell transplantation in primary immunodeficiency. Journal of Allergy and Clinical Immunology 2020, 146(2), 406-416.
- Cole M, Hynes AM, Howel D, Hall L, Abinun M, Allahabadia A, Barrett T, Boelaert K, Drake AJ, Dimitri P, Kirk J, Zammitt N, Pearce S, Cheetham T. Adjuvant rituximab, a potential treatment for the young patient with Graves’ hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trial. BMJ Open 2019, 9, e024705.
- Greco R, Labopin M, Badoglio M, Veys P, Silva JMF, Abinun M, Gualandi F, Bornhauser M, Ciceri F, Saccardi R, Lankester A, Alexander T, Gennery AR, Bader P, Farge D, Snowden JA. Allogeneic HSCT for Autoimmune Diseases: A Retrospective Study From the EBMT ADWP, IEWP, and PDWP Working Parties. Frontiers in Immunology 2019, 10, 1570.
- Nademi Z, Wynn RF, Slatter M, Hughes SM, Bonney D, Qasim W, Latour S, Truck J, Patel S, Abinun M, Flood T, Hambleton S, Cant AJ, Gennery AR, Arkwright PD. Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency. Bone Marrow Transplantation 2019, 54(1), 130-133.
- Lum SH, Flood T, Hambleton S, McNaughton P, Watson H, Abinun M, Owens S, Cigrovski N, Cant A, Gennery AR, Slatter M. Two decades of excellent transplant survival for chronic granulomatous disease: A supraregional immunology transplant center report. Blood 2019, 133(23), 2546-2549.
- Cuchet-Lourenco D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S. Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. Science 2018, 361(6404), 810-813.
- 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.
- Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, Plant AS, Su HC, Allenspach EJ, Slatter M, Abinun M, Lilic D, Cunningham-Rundles C, Eckstein O, Olbrich P, Guillerman RP, Patel NC, Demirdag YY, Zerbe C, Freeman AF, Holland SM, Szabolcs P, Gennery A, Torgerson TR, Milner JD, Leiding JW. Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. Journal of Allergy and Clinical Immunology 2018, 142(5), 1665-1669.
- Unni MNM, Elfeky R, Rao K, Nademi Z, Chiesa R, Amrolia P, Skinner R, Slater O, Worth A, Flood T, Abinun M, Hambleton S, Qasim W, Gaspar HB, Cant AJ, Gennery AR, Veys P, Slatter MA. Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience. Journal of Allergy and Clinical Immunology 2018, 141(6), 2319-2321.e1.
- Abinun M. Risks of serious infections in children treated with biologic response-modifying drugs. Rheumatology 2018, 57(2), 211-212.
- Shah RM, Elfeky R, Nademi Z, Qasim W, Amrolia P, Chiesa R, Rao K, Lucchini G, Silva JMF, Worth A, Barge D, Ryan D, Conn J, Cant AJ, Skinner R, Abd Hamid IJ, Flood T, Abinun M, Hambleton S, Gennery AR, Veys P, Slatter M. T-cell receptor αβ+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency. Journal of Allergy and Clinical Immunology 2018, 141(4), 1417-1426.e1.
- Slatter MA, Rao K, Abd Hamid IJ, Nademi Z, Chiesa R, Elfeky R, Pearce MS, Amrolia P, Worth A, Flood T, Abinun M, Hambleton S, Qasim W, Gaspar HB, Cant AJ, Gennery AR, Veys P. Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience. Biology of Blood and Marrow Transplantation 2018, 24(3), 529-536.
- Owens S, Agyeman P, Whyte M, Crossland D, Flood T, Abinun M. Aggressive anti-inflammatory treatment for refractory Kawasaki disease. Journal of Infection 2017, 74(1), 91-95.
- 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 JDM, 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 MAA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova J-L, 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 δ syndrome: A large patient cohort study. Journal of Allergy and Clinical Immunology 2017, 139(2), 597-606.e4.
- Palagano E, Slatter MA, Uva P, Menale C, Villa A, Abinun M, Sobacchi C. Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene. Bone 2017, 97, 126-129.
- Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Girod SD, Rosain J, Sasaki S, Chandrakasan S, Schmid JP, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Padilla SE, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Gungor T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Doffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova J-L, Orange JS, Picard C. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Blood 2017, 130(12), 1456-1467.
- Engelhardt KR, Xu Y, Grainger A, Germani Batacchi MGC, Swan DJ, Willet JDP, Abd Hamid IJ, Agyeman P, Barge D, Bibi S, Jenkins L, Flood TJ, Abinun M, Slatter MA, Gennery AR, Cant AJ, Santibanez Koref M, Gilmour K, Hambleton S. Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. Journal of Clinical Immunology 2017, 37(1), 42-50.
- 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.
- Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Guzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Ozen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proceedings of the National Academy of Sciences 2016, 113(36), 10127-10132.
- Singh Dang T, Willet JDP, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Santibanez Koref M, Reynard LN, Ali S, Hambleton S. Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency. Journal of Clinical Immunology 2016, 36(2), 117-122.
- Goodhead C, Friswell M, Abinun M, Anderson M, Lachman H, Natarajan S, Leech S. Dramatic response to anakinra in a child with urticaria, cryopyrin-associated periodic syndrome-like symptoms and atypical alteration in NLRP3. In: Annual Meeting of the British Society for Paediatric Dermatology. 2016, Sheffield: Wiley-Blackwell.
- Dang TS, Willet JDP, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S. Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency (vol 36, pg 117, 2016). Journal of Clinical Immunology 2016, 36(3), 336-337.
- 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 TCRαβ and CD19-depleted second stem cell transplant for steroid-resistant acute skin graft versus host disease. Journal of Allergy and Clinical Immunology 2016, 138(2), 603-605.
- Nademi Z, Slatter MA, Dvorak CC, Neven B, Fischer A, Suarez F, Booth C, Rao K, Laberko A, Rodina J, Bertrand Y, Koltan S, Debski R, Flood T, Abinun M, Gennery AR, Hambleton S, Ehl S, Cant AJ. Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome. Journal of Allergy and Clinical Immunology 2016, 139(6), 1046-1049.
- Slatter MA, Engelhardt KR, Burroughs LM, Arkwright PD, Nademi Z, Skoda-Smith S, Hagin D, Kennedy A, Barge D, Flood T, Abinun M, Wynn RF, Gennery AR, Cant AJ, Sansom D, Hambleton S, Torgerson TR. Hematopoietic stem cell transplantation for CTLA4 deficiency. Journal of ALlergy and Clinical Immunology 2016, 138(2), 615-619.
- Abinun M, Lane JP, Wood M, Friswell M, Flood TJ, Foster HE. Infection-Related Death among Persons with Refractory Juvenile Idiopathic Arthritis. Emerging Infectious Diseases 2016, 22(10), 1720-1727.
- Muthiah S, Goodhead C, Friswell M, Natarajan S, Crow YJ, Abinun M, Leech SN. A case of Aicardi-Goutieeres syndrome illustrating the clinical heterogeneity of this disorder. In: British Society for Paediatric Dermatology Annual Meeting. 2015, Oxford, UK: Wiley-Blackwell Publishing Ltd.
- Robertson N, Engelhardt K, Morgan N, Barge D, Cant A, Hugues S, Abinun M, Xu YB, Koref M, Arkwright P, Hambleton S. A Novel 10bp Frameshift Deletion In ICOS In Two Patients With Combined Immunodeficiency. In: UK PIN 2015. 2015, Belfast, Northern Ireland: Wiley-Blackwell Publishing Ltd.
- Coulter T, Chandra A, Bacon CM, Babar J, Curtis J, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JDM, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Faust SN, Williams AP, Hayman G, Kucuk ZY, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Feighery C, Gavin PJ, Jones A, Ibrahim MAA, Markelj G, Abinun M, Touzot F, Rieux-Laucat F, Latour S, Moshous D, Pellier I, Fischer A, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ. Activated PI3-Kinase Delta Syndrome: Clinical, Radiological And Laboratory Features Of A Large Cohort. In: UKPIN 2015 Meeting. 2015, Belfast, Northern Ireland: Wiley-Blackwell Publishing Ltd.
- Robertson N, Engelhardt KR, Morgan NV, Barge D, Cant AJ, Hughes SM, Abinun M, Xu YB, Koref MS, Arkwright PD, Hambleton S. Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis. Journal of Clinical Immunology 2015, 35(7), 598-603.
- 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.
- Gambineri E, Mannurita SC, Robertson H, Vignoli M, Haugk B, Lionetti P, Hambleton S, Barge D, Gennery AR, Slatter M, Nademi Z, Flood TJ, Jackson A, Abinun M, Cant AJ. Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation. Journal of Allergy and Clinical Immunology 2015, 135(1), 260-262.e8.
- Morillo-Gutierrez B, Nademi Z, Dunn J, Barge D, Hambleton S, Abinun M, Flood T, Cant AJ, Gennery A, Slatter M. Haploidentical TCRab and CD19 Depleted Stem Cell Transplant for Primary Immunodeficiency-6 cases. In: 41st Annual Meeting of the European Society for Blood and Marrow Transplantation. 2015, Istanbul, Turkey: Nature Publishing Group.
- Engelhardt KR, Xu YB, Grainger A, Batacchi MGCG, Swan DJ, Willet JDP, Abd Hamid IJ, Agyeman P, Barge D, Bibi S, Jenkins L, Flood T, Abinun M, Slatter M, Gennery AR, Cant AJ, Koref MS, Hambleton S. Identification Of Heterozygous Single- And Multi-exon Deletions In IL7R By Whole Exome Sequencing. In: UKPIN 2015 Meeting. 2015, Belfast, Northern Ireland: Wiley-Blackwell Publishing Ltd.
- Muthiah S, Brown S, Abinun M, Leech S. Idiopathic infantile pyoderma gangrenosum: our experience. In: British Association of Dermatologists 95th Annual Meeting. 2015, Manchester, UK: Wiley-Blackwell.
- 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.
- 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 2015, 100(9), 891.
- Holzinger D, Fassl SK, de Jager W, Lohse P, Rohrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodriguez-Gallego C, Lopez-Almaraz R, Arostegui JI, Colino E, Roldan R, Fessatou S, Isidor B, Poignant S, Ito K, Epple HJ, Bernstein JA, Jeng M, Frankovich J, Lionetti G, Church JA, Ong PY, LaPlant M, Abinun M, Skinner R, Bigley V, Sachs UJ, Hinze C, Hoppenreijs E, Ehrchen J, Foell D, Chae JJ, Ombrello A, Aksentijevich I, Sunderkoetter C, Roth J. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. Journal of Allergy and Clinical Immunology 2015, 136(5), 1337-1345.
- 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.
- Jolles S, Williams P, Carne E, Mian H, Huissoon A, Wong G, Hackett S, Lortan J, Platts V, Longhurst H, Grigoriadou S, Dempster J, Deacock S, Khan S, Darroch J, Simon C, Thomas M, Pavaladurai V, Alachkar H, Herwadkar A, Abinun M, Arkwright P, Tarzi M, Helbert M, Bangs C, Pastacaldi C, Phillips C, Bennett H, El-Shanawany T. A UK national audit of hereditary and acquired angioedema. Clinical and Experimental Immunology 2014, 175(1), 59-67.
- Rensing-Ehl A, Volkl S, Speckmann C, Lorenz MR, Ritter J, Janda A, Abinun M, Pircher H, Bengsch B, Thimme R, Fuchs I, Ammann S, Allgauer A, Kentouche K, Cant A, Hambleton S, da Cunha CB, Huetker S, Kuhnle I, Pekrun A, Seidel MG, Hummel M, Mackensen A, Schwarz K, Ehl S. Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency. Blood 2014, 124(6), 851-860.
- Kharya G, Nademi Z, Leahy T, Brigham K, Barge D, Hambleton S, Abinun M, Flood T, Cant A, Slatter M, Gennery A. Common Gamma chain- and JAK3-deficient SCID, conditioned versus unconditioned transplant: a single centre experience. In: 40th Annual Meeting of the European Group for Blood and Marrow Transplantation. 2014, Milan, Italy: Nature Publishing Group.
- Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WXL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CCR, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2. New England Journal of Medicine 2014, 370(10), 911-920.
- 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.
- Abinun M, Nademi Z, Flood TJ, Friswell M, Foster HE, Hambleton S, Gennery AR, Cant AJ, Slatter M. Haematopoietic stem cell transplantation (hsct) for severe autoimmune and autoinflammatory syndromes in children. In: 100th J Project Meeting. 2014, Antalya, TURKEY: Springer.
- Elfeky R, Nademi Z, Brigham K, Barge D, Hambleton S, Abinun M, Flood T, Cant A, Slatter M, Gennery A. Haematopoietic stem cell transplantation for RAG1/2 severe combined immunodeficiency or Omenn syndrome: a single centre experience. In: 40th Annual Meeting of the European Group for Blood and Marrow Transplantation. 2014, Milan, Italy: Nature Publishing Group.
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