Staff Profile
Dr Mario Abinun
Associate Lecturer
- Email: mario.abinun@ncl.ac.uk
- 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.
- Harrison S, Slatter M, Nademi Z, Jolles S, Al-Herz W, Flood T, Cant A, Doffinger R, Glocker C, Grimbacher B, Abinun M, Gennery A. Haematopoietic Stem Cell Transplantation May Resolve the Immune Deficit Associated with STAT-3 Deficient Hyper-IGE Syndrome. In: 16th Biennial ESID Meeting 2014. 2014, Prague, Czech Republic: Springer.
- Morillo-Gutierrez B, Nademi Z, Dunn J, Barge D, Hambleton S, Abinum M, Flood T, Cant AJ, Gennery AR, Slatter M. Haploidentical TCR Alfa/Beta and CD19 Depleted Stem Cell Transplant for Primary Immunodeficiency-4 Cases. In: European Society for Immunodeficiencies. 2014, Prague, Czech Republic: Springer.
- Routes J, Abinun M, Al-Herz W, Bustamante J, Condino-Neto A, De La Morena MT, Etzioni A, Gambineri E, Haddad E, Kobrynski L, Le Deist F, Nonoyama S, Oliveira JB, Perez E, Picard C, Rezaei N, Sleasman J, Sullivan KE, Torgerson T. ICON: The early diagnosis of congenital immunodeficiencies. Journal of Clinical Immunology 2014, 34(4), 398-424.
- Wu Q, Pesenacker AM, Stansfield A, King D, Barge D, Foster HE, Abinun M, Wedderburn LR. Immunological characteristics and T-cell receptor clonal diversity in children with systemic juvenile idiopathic arthritis undergoing T-cell-depleted autologous stem cell transplantation. Immunology 2014, 142(2), 227-236.
- 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.
- Lane JR, Evans PTG, Nademi Z, Barge D, Jackson A, Hambleton S, Flood TJ, Cant AJ, Abinun M, Slatter MA, Gennery AR. Low-Dose Serotherapy Improves Early Immune Reconstitution after Cord Blood Transplantation for Primary Immunodeficiencies. Biology of Blood and Marrow Transplantation 2014, 20(2), 243-249.
- McCann LJ, McPartland J, Barge D, Strain L, Bourn D, Calonje E, Verbov J, Riordan A, Kokai G, Bacon CM, Wright M, Abinun M. Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature. Journal of Clinical Immunology 2014, 34(1), 42-48.
- 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.
- Nademi Z, Slatter M, Gambineri E, Mannurita SC, Barge D, Hodges S, Bunn S, Thomas J, Haugk B, Hambleton S, Flood T, Cant A, Abinun M, Gennery A. Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Bone Marrow Transplantation 2014, 49(2), 310-312.
- Flinn A, Abinun M, Leahy R, Cant A, Butler K, Gennery AR. STAT3-Deficient Hyper Ige Syndrome in a Pediatric Cohort. In: 2014 CIS Annual Meeting: Primary Immune Deficiency Diseases North American Conference. 2014, Baltimore, MD: Springer.
- Altmann T, Slatter M, Nademi Z, Abinun M, Gennery A. Treatment of steroid-refractory graft versus host disease (SR-GvHD) after bone marrow transplant (BMT) for primary immune deficiency-single centre experience. In: 40th Annual Meeting of the European Group for Blood and Marrow Transplantation. 2014, Milan, Italy: Nature Publishing Group.
- 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.
- Sinha A, Abinun M, Gennery AR, Barge D, Slatter M, Cheetham T. Graves' Immune Reconstitution Inflammatory Syndrome in Childhood. Thyroid 2013, 23(8), 1010-1014.
- Slatter M, Nademi Z, Patel S, Barge D, Valappil M, Brigham K, Hambleton S, Clark J, Flood T, Cant A, Abinun M, Gennery A. Haploidentical hematopoietic stem cell transplantation can lead to viral clearance in severe combined immunodeficiency. Journal of Allergy and Clinical Immunology 2013, 131(6), 1705-1708.e1.
- O'Sullivan MD, Stroud C, Abinun M, Doffinger R, O'Reilly S, Ciechomska M, Barge D, Treacy R, Owens S, Flood T, Gennery A, Hambleton S. Late Onset Invasive Pneumococcal Disease in a Patient with IRAK4 Deficiency. In: AAAAI Annual Meeting. 2013, San Antonio, TX, USA: Mosby, Inc.
- Angulo I, Vadas O, Garcon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu CX, 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, Debre 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 δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage. Science 2013, 342(6160), 866-871.
- Rensing-Ehl A, Janda A, Lorenz MR, Gladstone BP, Fuchs I, Abinun M, Albert M, Butler K, Cant A, Cseh AM, Ebinger M, Goldacker S, Hambleton S, Hebart H, Houet L, Kentouche K, Kuhnle I, Lehmberg K, Mejstrikova E, Niemeyer C, Minkov M, Neth O, Duckers G, Owens S, Rosler J, Schilling FH, Schuster V, Seidel MG, Smisek P, Sukova M, Svec P, Wiesel T, Gathmann B, Schwarz K, Vach W, Ehl S, Speckmann C. Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. Haematologica 2013, 98(12), 1948-1955.
- Wu Q, Pesenacker AM, Stansfield A, King D, Barge D, Abinun M, Foster HE, Wedderburn L. T-Cell-Depleted Autologous Stem Cell Transplantation Results in a Chimera of Clones from Before and After Transplant in Systemic Juvenile Idiopathic Arthritis Pain. In: Rheumatology 2013. 2013, Birmingham, UK: Oxford University Press.
- Hambleton S, McDonald DO, Morgan NV, Griffin H, Singh-Dang T, Grainger A, Reynard L, Gennery AR, Slatter M, Flood TJ, McKiernan P, Barge D, Abinun M, Hackett S, Loughlin J, Lakey J, Cant AJ, Santibanez-Koref M. Autosomal recessive combines immunodeficiency due to loss of function mutation in Tripeptidyl Peptidase II. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
- Barge D, Bainbridge M, Slatter M, Gennery A, Hambleton S, Abinun M, Flood T, Cant A, Spickett G. Class switch memory B cells in assessing humoral immunity post HSCT for primary immune deficiency. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
- Colarusso G, Mannurita SC, Vignoli M, Barzaghi F, Passerini L, Cancrini C, Cant A, Gennery A, Abinun M, Ikinciogullari A, Lionetti P, Bacchetta R, Gambineri E. Clinical analysis of the complex world of inherited multiple autoimmunity. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: 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.
- McCann LJ, McPartland J, Barge D, Strain L, Calonje E, Verbov J, Riordan A, Bourn D, Wright M, Bacon C, Kokai G, Abinun M. Granulomatous inflammation at presentation of severe T cell immunodeficiency due to RMRP mutation (cartilage-hair hypoplasis). In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
- Mannurita SC, Robertson H, Vignoli M, Hambleton S, Gennery AR, Slatter M, Nademi Z, Barge D, Abinun M, Cant AW, Gambineri E. Gut immune reconstitution in Ipex Syndrome after HSCT. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer New York LLC.
- Gambineri E, Mannurita SC, Robertson H, Vignoli M, Hambleton S, Gennery A, Slatter M, Nademi Z, Barge D, Abinun M, Cant AJ. Gut Immune Reconstitution in IPEX Syndrome After HSCT. In: Annual Meeting of the Clinical Immunology Society (CIS). 2012, Chicago, Illinois, USA: Springer.
- Snowden JA, Pearce RM, Lee J, Kirkland K, Gilleece M, Veys P, Clark RE, Kazmi M, Abinun M, Jackson GH, Mackinnon S, Russell NH, Cook G, BSBMT Clinical Trials Comm. Haematopoietic stem cell transplantation (HSCT) in severe autoimmune diseases: analysis of UK outcomes from the British Society of Blood and Marrow Transplantation (BSBMT) data registry 1997-2009. British Journal of Haematology 2012, 157(6), 742-746.
- Matthews CJ, Abinun M, Dunn AN, Green MA, Morris J, Slatter MA, Hambleton S, Carter V, Howell WM. Hematopoietic stem cell transplantation for primary immunodeficiency: A sibling donor mismatched at HLA-A due to recombination. In: 16th International HLA and Immunogenetics Workshop. 2012, Liverpool, UK: Wiley-Blackwell Publishing, Inc.
- Moreira D, Slatter M, Nademi Z, Brigham K, Barge D, Jackson A, Flood T, Cant A, Abinun M, Hambleton S, Gennery A. Immune reconstitution and clinical outcome after HSCT infusion for severe combined immunodeficiency in Newcastle. In: Biology of Blood and Marrow Transplantation: BMT Tandem Meeting. 2012, San Diego, California, USA: Elsevier Inc.
- Esteves I, Badawy S, Nademi Z, Barge D, Hambleton S, Flood T, Cant AJ, Abinun M, Slatter M, Gennery AR. Immunological reconstitution after haematopoietic stem cell transplantation for CD40L deficiency. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
- 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.
- Lane J, Slatter M, Nademi Z, Tierney P, Barge D, Hambleton S, Flood T, Cant A, Abinun M, Jackson G, Collin M, Gennery A. Outcome of haematopoietic stem cell transplantation in patients with chronic granulomatous disease at a national centre. In: 38th Annual Meeting of the European Group for Blood and Marrow Transplantation (EBMT). 2012, Geneva, Switzerland: Nature Publishing Group.
- Maggina P, Nademi Z, Barge D, Hambleton S, Flood T, Cant AJ, Abinun M, Slatter M, Gennery A. Outcome of haematopoietic stem cell transplantation in patients with major histocompatibility class II deficiency at a national centre. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
- Warrier K, Sen E, Abinun M, Jandial S. Profound muscle weakness with neurological and renal involvement: JDM or not?. In: Annual Conference of the British Society for Paediatric and Adolescent Rheumatology (BSPAR). 2012, Edinburgh, UK: Oxford University Press.
- Warrier K, Sen E, Abinun M, Jandial S. Profound muscle weakness with neurological and renal involvement: JDM or not?. In: Annual Conference of the British Society for Paediatric and Adolescent Rheumatology (BSPAR). 2012, Edinburgh, UK: Oxford University Press.
- Slatter M, Rao K, Krol L, Sedlacek P, Nademi Z, Chiesa R, Amrolia P, Flood T, Abinun M, Cant A, Hambleton S, Gaspar H, Veys P, Gennery A. Treosulfan, fludarabine and alemtuzumab conditioning for haematopoietic stem cell transplantation in children with chronic granulomatous disease: experience in three centres. In: 38th Annual Meeting of the European Group for Blood and Marrow Transplantation (EBMT). 2012, Geneva, Switzerland: Nature Publishing Group.
- Rensing-Ehl A, Janda A, Vach W, Gladstone BP, Abinun M, Albert MH, Butler K, Cant A, Cseh A, Ebinger M, Goldacker S, Hambleton S, Hebart H, Houet L, Kentouche K, Kuhnle I, Lehmberg K, Mejstrikova E, Niemeyer C, Minkov M, Neth O, Dueckers G, Owens S, Richards M, Rosler J, Schilling FH, Schuster V, Seidel MG, Smisek P, Sukova M, Svec P, Wiesel T, Lorenz M, Schwarz K, Ehl S, Speckmann C. When should the FAS gene be sequenced in patients with lymphoproliferation and autoimmunity. In: 15th Biennial Meeting of the European Society for Immunodeficiencies. 2012, Florence, Italy: Springer.
- Griffin H, McDonald DO, Singh-Dang T, Dickinson R, Grainger A, Reynard L, Hussain R, Cant AJ, Gennery AR, Abinun M, Flood TJ, Collin MP, Loughlin J, Morgan NV, Santibanez-Koref M, Hambleton S. Whole exome sequencing as a diagnostic tool in primary immunodeficiency. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
- Passerini L, Olek S, Di Nunzio S, Barzaghi F, Hambleton S, Abinun M, Tommasini A, Vignola S, Cipolli M, Amendola M, Naldini L, Guidi L, Cecconi M, Roncarolo MG, Bacchetta R. Forkhead box protein 3 (FOXP3) mutations lead to increased T(H)17 cell numbers and regulatory T-cell instability. Journal of Allergy and Clinical Immunology 2011, 128(6), 1376-1379.e1.
- Lane JP, Evans PTG, Slatter MA, Barge D, Jackson A, Hambleton S, Flood T, Abinun M, Cant J, Gennery A. Immune reconstitution post umbilical cord blood stem cell transplantation for primary immunodeficiency in a national centre. In: Bone Marrow Transplantation: 37th European Group for Bone and Marrow Transplantation. 2011, Paris, France: Nature Publishing Group.
- Slatter MA, Angus B, Windebank K, Taylor A, Meaney C, Lester T, Norbury G, Hambleton S, Abinun M, Flood TJ, Cant AJ, Gennery AR. Polymorphous lymphoproliferative disorder with Hodgkin-like features in common gamma-chain-deficient severe combined immunodeficiency. Journal of Allergy and Clinical Immunology 2011, 127(2), 533-535.
- Slatter MA, Rao K, Amrolia P, Flood T, Abinun M, Hambleton S, Nademi Z, Goulden N, Davies G, Qasim W, Gaspar HB, Cant A, Gennery AR, Veys P. Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience. Blood 2011, 117(16), 4367-4375.
- Milanetti F, Abinun M, Voltarelli J, Burt R. Autologous hematopoietic stem cell transplantation for childhood autoimmune disease. Pediatric Clinics of North America 2010, 57(1), 239-271.
- Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nature Genetics 2007, 39(8), 960-962.
- Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Ayse M, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006, 25(5), 745-755.
- Pangrazio A, Poliani PL, Megarbane A, Lefranc G, Lanino E, Di Rocco M, Rucci F, Lucchini F, Ravanini M, Facchetti F, Abinun M, Vezzoni P, Villa A, Frattini A. Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. Journal of Bone and Mineral Research 2006, 21(7), 1098-1105.
- De Kleer IM, Brinkman DMC, Ferster A, Abinun M, Quartier P, Van Der Net J, Ten Cate R, Wedderburn LR, Horneff G, Oppermann J, Zintl F, Foster HE, Prieur AM, Fasth A, Van Rossum MAJ, Kuis W, Wulffraat NM. Autologous stem cell transplantation for refractory juvenile idiopathic arthritis: Analysis of clinical effects, mortality, and transplant related morbidity. Annals of the Rheumatic Diseases 2004, 63(10), 1318-1326.
- Wedderburn LJ, Palmer P, Abinun MA, Foster HE. Autologous stem cell transplantation as a treatment for severe juvenile arthritis. Archives Disease of Childhood 2003, 88(3), 201-205.
- Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. Journal of Bone and Mineral Research 2003, 18(10), 1740-1747.
- 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.
- Wedderburn LR, Patel A, King D, Varsani H, Foster HE, Abinun MA. Long term follow up immune repertoire after severe immunosuppression and autologous stem cell transplantation (ASCT) in children with juvenile idiopathic arthritis (JIA). Clinical and Experimental Rheumatology 2003, 21(4), 537.
- Wedderburn LR, Patel A, King D, Varsani H, Foster HE, Abinun MM. Long term follow up of immune repertoire after severe immunosuppression and autologous stem cell rescue in children with juvenile idiopathic arthritis. In: Arthritis & Rheumatism: 67th Annual Scientific Meeting of the American College of Rheumatology. 2003, Orlando, Florida, USA: John Wiley & Sons, Inc.
- Antoine C, Muller S, Cant A, Cavazzana-Calvo M, Veys P, Vossen J, Fasth A, Heilmann C, Wulffraat N, Seger R, Blanche S, Friedrich W, Abinun M, Davies G, Bredius R, Schulz A, Landais P, Fischer A, European Grp Blood Marrow Transpla. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet 2003, 361(9357), 553-560.
- Eltringham ME, Myers A, Friswell M, Abinun MA, Kay LJ, Foster HE. Referral delays for children with juvenile idiopathic arthritis. Clinical and Experimental Rheumatology 2003, 21(4), 532.
- Das S, Patwardhan K, Taylor AEM, Carmichael AJ, Abinun M. Widespread idiopathic pyoderma gangrenosum in infancy treated successfully with infliximab. In: British Journal of Dermatology: 83rd Annual Meeting of the British Association of Dermatologists. 2003, Brighton, UK: Wiley-Blackwell Publishing Ltd.
- Arkwright PD, Abinun M, Cant AJ. Autoimmunity in human primary immunodeficiency diseases. Blood 2002, 99(8), 2694-2702.
- Gennery AR, Dickinson AM, Brigham K, Barge D, Spickett GP, Curtis A, Spencer V, Jackson A, Carter V, Palmer P, Flood TJ, Cant AJ, Abinun M. CAMPATH-1M T-cell depleted BMT for SCID: long-term follow-up of 19 children treated 1987-98 in a single center. Cytotherapy 2001, 3(3), 221-232.
- Hoare S, Bajwa RSP, Abinun M. Septic shock, meningitis and adrenal hemorrhages in a twelve-year-old. Pediatric Infectious Disease Journal 2001, 20(1), 89-90.
- Khawaja K, Gennery AR, Abinun M, Flood TJ, Cant AJ. Single Supraregional Centre Experience of Bone Marrow Transplantation for CD40L Deficiency. Archives of Disease in Childhood 2001, 84(6), 508-511.
- Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israel A, Courtois G, Casanova JL. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling. Nature Genetics 2001, 27(3), 277-285.
- Gennery AR, Flood TJ, Abinun M, Cant AJ. Bone marrow transplantation does not correct the hyper IgE syndrome. Bone Marrow Transplantation 2000, 25(12), 1303-1305.
- Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nature Genetics 2000, 25(3), 343-346.
- Cole BOI, Welbury RR, Bond E, Abinun M. Dental manifestations in severe combined immunodeficiency following bone marrow transplantation. Bone Marrow Transplantation 2000, 25(9), 1007-1009.
- Srinivasan M, Abinun M, Cant AJ, Tan K, Oakhill A, Steward CG. Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia. Archives of Disease in Childhood: Fetal & Neonatal 2000, 83(1), F21-F23.
- Crooks BNA, Taylor CE, Turner AJL, Osman HKE, Abinun M, Flood TJ, Cant AJ. Respiratory viral infections in primary immune deficiencies: significance and relevance to clinical outcome in a single BMT unit. Bone Marrow Transplantation 2000, 26(10), 1097-1102.
- Berrington JE, Flood TJ, Abinun M, Galloway A, Cant AJ. Unsuspected Pneumocystis carinii pneumonia at presentation of severe primary immunodeficiency. Archives of Disease in Childhood 2000, 82(2), 144-147.
- Crooks BNA, Taylor CE, Turner AJL, Abinun M, Flood TJ, Cant AJ. Clinical experience of respiratory viral infections in children undergoing bone marrow transplantation for primary immunodeficiencies. In: Bone Marrow Transplantation. 1999, Nature Publishing Group.
- Abinun M. Hereditary angio-oedema in children. Lancet 1999, 353(9171), 2242-2242.
- Abinun M, Newson T, Rowe PW, Flood TJ, Cant AJ. Importance of neurological assessment before bone marrow transplantation for osteopetrosis. Archives of Disease in Childhood 1999, 80(3), 273-274.