Publications by Dr Mario Abinun - ePrints

Browsing publications by Dr Mario Abinun.

Newcastle Authors	Title	Year
Professor Timothy Cheetham Mike Cole Dr Mario Abinun Dr Sonya Carnell Jon Prichard et al.	Adjuvant Rituximab-Exploratory Trial in Young People With Graves Disease	2022
Dr Mary Slatter Dr Mario Abinun	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))	2022
Dr Mario Abinun	Osteoclast-poor osteopetrosis	2022
Dr Christo Tsilifis Dr Su Han Lum Dr Zohreh Nademi Professor Sophie Hambleton Dr Terence Flood et al.	TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency	2022
Dr Ina Schim van der Loeff Dr Mario Abinun Angela Grainger Dr Karin Engelhardt Professor Sophie Hambleton et al.	Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2	2021
Dr Mario Abinun Dr Mary Slatter	Haematopoietic stem cell transplantation in paediatric rheumatic disease	2021
Dr Christo Tsilifis Dr Mary Slatter Dr Zohreh Nademi Dr Terence Flood Professor Andrew Cant et al.	Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome	2021
Dr Alexandra Laberko Dr Mario Abinun Professor Roderick Skinner Professor Andrew Gennery	HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome	2021
Dr Zohreh Nademi Dr Su Han Lum Dr Terence Flood Dr Mario Abinun Dr Stephen Owens et al.	Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases	2021
Dr Su Han Lum Dr Zohreh Nademi Dr Terence Flood Professor Timothy Cheetham Dr Mario Abinun et al.	Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency	2021
Dr Mario Abinun	Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants	2021
Dr Mario Abinun Professor Andrew Gennery	Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome	2020
Dr Karin Engelhardt Dr Zohreh Nademi Dr Saba Habibollah Dr Aisling Flinn Dr Ben Shillitoe et al.	Improved transplant survival and long-term disease outcome in children with MHC class II deficiency	2020
Dr Sheila Waugh Dr Lisa Newton Dr Zohreh Nademi Dr Stephen Owens Professor Marieke Emonts-le Clercq et al.	Outcome of autoimmune cytopenia after hematopoietic cell transplantation in primary immunodeficiency	2020
Mike Cole Dr Ann Marie Hynes Denise Howel Dr Lesley Hall Dr Mario Abinun et al.	Adjuvant rituximab, a potential treatment for the young patient with Graves’ hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trial	2019
Dr Mario Abinun Professor Andrew Gennery	Allogeneic HSCT for Autoimmune Diseases: A Retrospective Study From the EBMT ADWP, IEWP, and PDWP Working Parties	2019
Dr Zohreh Nademi Dr Mary Slatter Dr Mario Abinun Dr Terence Flood Professor Sophie Hambleton et al.	Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency	2019
Dr Terence Flood Professor Sophie Hambleton Dr Mario Abinun Dr Stephen Owens Professor Andrew Cant et al.	Two decades of excellent transplant survival for chronic granulomatous disease: A supraregional immunology transplant center report	2019
Dr Christopher Bacon Dr Mario Abinun	Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation	2018
Dr Mario Abinun Dr Desa Lilic Professor Andrew Gennery Dr Mary Slatter	Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations	2018
Dr Mary Slatter Dr Mario Abinun Dr Desa Lilic Professor Andrew Gennery	Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations	2018
Dr Zohreh Nademi Professor Roderick Skinner Dr Terence Flood Dr Mario Abinun Professor Sophie Hambleton et al.	Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience	2018
Dr Mario Abinun	Risks of serious infections in children treated with biologic response-modifying drugs	2018
Dr Zohreh Nademi Professor Andrew Cant Professor Roderick Skinner Dr Intan Abd Hamid Dr Terence Flood et al.	T-cell receptor αβ+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency	2018
Dr Mary Slatter Dr Intan Abd Hamid Dr Zohreh Nademi Professor Mark Pearce Dr Terence Flood et al.	Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience	2018
Dr Stephen Owens Dr David Crossland Dr Terence Flood Dr Mario Abinun	Aggressive anti-inflammatory treatment for refractory Kawasaki disease	2017
Dr Christopher Bacon Dr Mario Abinun Professor Andrew Cant	Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study	2017
Dr Mary Slatter Dr Mario Abinun	Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene	2017
Professor Andrew Gennery Dr Mario Abinun	Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations	2017
Dr Karin Engelhardt Dr Yaobo Xu Angela Grainger Dr David Swan Dr Joe Willet et al.	Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing	2017
Dr Katherine Crossland Dr Mario Abinun Professor Timothy Cheetham Professor Simon Pearce Professor Catharien Hilkens et al.	AIRE is not essential for the induction of human tolerogenic dendritic cells	2016
Dr Mario Abinun	Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease	2016
Dr Tarana Singh Dang Dr Joe Willet Helen Griffin Dr Graeme O'Boyle Dr Mario Abinun et al.	Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency	2016
Dr Mario Abinun Dr Mark Anderson Dr Sivakumar Natarajan Dr Suzy Leech	Dramatic response to anakinra in a child with urticaria, cryopyrin-associated periodic syndrome-like symptoms and atypical alteration in NLRP3	2016
Dr Tarana Singh Dang Dr Joe Willet Helen Griffin Dr Graeme O'Boyle Dr Mario Abinun et al.	Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency (vol 36, pg 117, 2016)	2016
Dr Mary Slatter Dr Zohreh Nademi Janice Dunn Professor Roderick Skinner Professor Sophie Hambleton et al.	Haploidentical CD3 TCRαβ and CD19-depleted second stem cell transplant for steroid-resistant acute skin graft versus host disease	2016
Dr Zohreh Nademi Dr Mary Slatter Dr Terence Flood Dr Mario Abinun Professor Andrew Gennery et al.	Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome	2016
Dr Mary Slatter Dr Karin Engelhardt Dr Zohreh Nademi Dr Mario Abinun Professor Andrew Gennery et al.	Hematopoietic stem cell transplantation for CTLA4 deficiency	2016
Dr Mario Abinun Dr Jonathan Lane Dr Terence Flood Emerita Professor Helen Foster	Infection-Related Death among Persons with Refractory Juvenile Idiopathic Arthritis	2016
Dr Siobhan Muthiah Dr Sivakumar Natarajan Dr Mario Abinun Dr Suzy Leech	A case of Aicardi-Goutieeres syndrome illustrating the clinical heterogeneity of this disorder	2015
Nicholas Robertson Dr Karin Engelhardt Professor Andrew Cant Dr Mario Abinun Dr Yaobo Xu et al.	A Novel 10bp Frameshift Deletion In ICOS In Two Patients With Combined Immunodeficiency	2015
Dr Christopher Bacon Dr Mario Abinun Professor Andrew Cant	Activated PI3-Kinase Delta Syndrome: Clinical, Radiological And Laboratory Features Of A Large Cohort	2015
Nicholas Robertson Dr Karin Engelhardt Professor Andrew Cant Dr Mario Abinun Professor Sophie Hambleton et al.	Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis	2015
Dr Katherine Crossland Dr Chun Chan Tariq AlShehri Dr Mario Abinun Professor Andrew Gennery et al.	Gain-of-function STAT1 mutations impair STAT3 activity in patients with Chronic Mucocutaneous Candidiasis (CMC)	2015
Dr Eleonora Gambineri Dr Sara Mannurita Dr Helen Robertson Dr Beate Haugk Professor Sophie Hambleton et al.	Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation	2015
Dr Zohreh Nademi Janice Dunn Professor Sophie Hambleton Dr Mario Abinun Dr Terence Flood et al.	Haploidentical TCRab and CD19 Depleted Stem Cell Transplant for Primary Immunodeficiency-6 cases	2015
Dr Karin Engelhardt Yaobo Xu Angela Grainger Dr David Swan Dr Joe Willet et al.	Identification Of Heterozygous Single- And Multi-exon Deletions In IL7R By Whole Exome Sequencing	2015
Dr Mario Abinun Dr Suzy Leech	Idiopathic infantile pyoderma gangrenosum: our experience	2015
Tariq AlShehri Dr Mario Abinun Professor Andrew Gennery Dr Desa Lilic	Is Gain-of-function STAT1 CMC An Interferonopathy?	2015
Dr Mario Abinun Professor Andrew Gennery Dr Terence Flood Dr Desa Lilic	Long-term Lymphocyte Subset Monitoring In CMC Patients With gain-of-function STAT-1 Mutations	2015
Dr Zohreh Nademi Dr Mario Abinun	Severe combined immunodeficiency syndrome presenting with disseminated BCG infection	2015
Dr Mario Abinun Professor Roderick Skinner Dr Venetia Bigley	Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases	2015
Dr Mario Abinun Dr Desa Lilic Professor Andrew Cant Dr Terence Flood Professor Sophie Hambleton et al.	Successful Allogeneic Haematopoietic Stem Cell Transplantation In A Child With Severe Immunodeficiency 31-C (OMIM # 614162) Due To STAT1-GOF Mutation	2015
Dr Mario Abinun	A UK national audit of hereditary and acquired angioedema	2014
Dr Mario Abinun Professor Andrew Cant Professor Sophie Hambleton	Abnormally differentiated CD4⁺ or CD8⁺ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency	2014
Dr Zohreh Nademi Kenneth Brigham Professor Sophie Hambleton Dr Mario Abinun Professor Andrew Cant et al.	Common Gamma chain- and JAK3-deficient SCID, conditioned versus unconditioned transplant: a single centre experience	2014
Professor Sophie Hambleton Dr Mario Abinun	Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2	2014
Dr Katherine Crossland Dr Mario Abinun Professor Andrew Gennery Professor Jelena Mann Dr Dennis Lendrem et al.	Gain-of-function stat1 mutation impairs stat3 function predisposing to chronic mucocutaneous candidiasis	2014
Dr Mario Abinun Dr Zohreh Nademi Emerita Professor Helen Foster Professor Sophie Hambleton Professor Andrew Gennery et al.	Haematopoietic stem cell transplantation (hsct) for severe autoimmune and autoinflammatory syndromes in children	2014
Dr Zohreh Nademi Kenneth Brigham Professor Sophie Hambleton Dr Mario Abinun Professor Andrew Cant et al.	Haematopoietic stem cell transplantation for RAG1/2 severe combined immunodeficiency or Omenn syndrome: a single centre experience	2014
Dr Mary Slatter Dr Zohreh Nademi Dr Terence Flood Professor Andrew Cant Dr Mario Abinun et al.	Haematopoietic Stem Cell Transplantation May Resolve the Immune Deficit Associated with STAT-3 Deficient Hyper-IGE Syndrome	2014
Dr Zohreh Nademi Janice Dunn Professor Sophie Hambleton Dr Mario Abinun Dr Terence Flood et al.	Haploidentical TCR Alfa/Beta and CD19 Depleted Stem Cell Transplant for Primary Immunodeficiency-4 Cases	2014
Dr Mario Abinun Dr Eleonora Gambineri	ICON: The early diagnosis of congenital immunodeficiencies	2014
Emerita Professor Helen Foster Dr Mario Abinun	Immunological characteristics and T-cell receptor clonal diversity in children with systemic juvenile idiopathic arthritis undergoing T-cell-depleted autologous stem cell transplantation	2014
Dr Mario Abinun Dr Stephen Hodges Professor Timothy Cheetham Dr Milos Ognjanovic Professor Alastair Burt et al.	Immunomodulatory Therapy for Severe Autoimmune Polyendocrinopathy Type-1 (APS-1)	2014
Dr Zohreh Nademi Professor Sophie Hambleton Dr Terence Flood Professor Andrew Cant Dr Mario Abinun et al.	Low-Dose Serotherapy Improves Early Immune Reconstitution after Cord Blood Transplantation for Primary Immunodeficiencies	2014
Dr Lisa Turnbull Dr David Bourn Dr Christopher Bacon Dr Michael Wright Dr Mario Abinun et al.	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	2014
Dr Katherine Crossland Professor Simon Pearce Dr Mario Abinun Professor Timothy Cheetham Professor Catharien Hilkens et al.	Role of Aire in the Induction of Human Tolerogenic Dendritic Cells	2014
Dr Zohreh Nademi Dr Mary Slatter Dr Eleonora Gambineri Dr Sara Mannurita Dr Stephen Hodges et al.	Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome	2014
Dr Mario Abinun Professor Andrew Cant Professor Andrew Gennery	STAT3-Deficient Hyper Ige Syndrome in a Pediatric Cohort	2014
Dr Tom Altmann Dr Mary Slatter Dr Zohreh Nademi Dr Mario Abinun Professor Andrew Gennery et al.	Treatment of steroid-refractory graft versus host disease (SR-GvHD) after bone marrow transplant (BMT) for primary immune deficiency-single centre experience	2014
Dr Mario Abinun Professor Andrew Cant Dr Desa Lilic	Treatment Options for Severe Immunodeficiency Due to Gain-of-Function STAT-1 Mutation	2014
Dr Akash Sinha Dr Mario Abinun Professor Andrew Gennery Dr Mary Slatter Professor Timothy Cheetham et al.	Graves' Immune Reconstitution Inflammatory Syndrome in Childhood	2013
Dr Mary Slatter Dr Zohreh Nademi Kenneth Brigham Professor Sophie Hambleton Dr Terence Flood et al.	Haploidentical hematopoietic stem cell transplantation can lead to viral clearance in severe combined immunodeficiency	2013
Dr Catherine Stroud Dr Mario Abinun Dr Steven O'Reilly Dr Marzena Ciechomska Dr Stephen Owens et al.	Late Onset Invasive Pneumococcal Disease in a Patient with IRAK4 Deficiency	2013
Dr Mario Abinun Professor Andrew Cant	Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage	2013
Dr Mario Abinun Professor Andrew Cant Professor Sophie Hambleton Dr Stephen Owens	Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia	2013
Dr Mario Abinun Emerita Professor Helen Foster	T-Cell-Depleted Autologous Stem Cell Transplantation Results in a Chimera of Clones from Before and After Transplant in Systemic Juvenile Idiopathic Arthritis Pain	2013
Professor Sophie Hambleton Dr David McDonald Dr Helen Griffin Angela Grainger Dr Louise Reynard et al.	Autosomal recessive combines immunodeficiency due to loss of function mutation in Tripeptidyl Peptidase II	2012
Dr Mary Slatter Professor Andrew Gennery Professor Sophie Hambleton Dr Mario Abinun Dr Terence Flood et al.	Class switch memory B cells in assessing humoral immunity post HSCT for primary immune deficiency	2012
Dr Sara Mannurita Professor Andrew Cant Professor Andrew Gennery Dr Mario Abinun Dr Eleonora Gambineri et al.	Clinical analysis of the complex world of inherited multiple autoimmunity	2012
Jie Zheng Emeritus Professor Drew Rowan Professor Andrew Gennery Dr Mario Abinun Dr Desa Lilic et al.	Gain-of-function STAT1 mutations alter STAT3 activation in patients with chronic mucocutaneous candidiasis	2012
Dr Lisa Turnbull Dr David Bourn Dr Michael Wright Dr Christopher Bacon Dr Mario Abinun et al.	Granulomatous inflammation at presentation of severe T cell immunodeficiency due to RMRP mutation (cartilage-hair hypoplasis)	2012
Dr Sara Mannurita Dr Helen Robertson Professor Sophie Hambleton Professor Andrew Gennery Dr Mary Slatter et al.	Gut immune reconstitution in Ipex Syndrome after HSCT	2012
Dr Eleonora Gambineri Dr Sara Mannurita Dr Helen Robertson Professor Sophie Hambleton Professor Andrew Gennery et al.	Gut Immune Reconstitution in IPEX Syndrome After HSCT	2012
Dr Mario Abinun Professor Graham Jackson	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	2012
Dr Mario Abinun Dr Mary Slatter Professor Sophie Hambleton Dr William Howell	Hematopoietic stem cell transplantation for primary immunodeficiency: A sibling donor mismatched at HLA-A due to recombination	2012
Dr Mary Slatter Kenneth Brigham Dr Terence Flood Professor Andrew Cant Dr Mario Abinun et al.	Immune reconstitution and clinical outcome after HSCT infusion for severe combined immunodeficiency in Newcastle	2012
Professor Sophie Hambleton Dr Terence Flood Professor Andrew Cant Dr Mario Abinun Dr Mary Slatter et al.	Immunological reconstitution after haematopoietic stem cell transplantation for CD40L deficiency	2012
Dr Mario Abinun Professor Andrew Gennery Dr Desa Lilic	Mutation screening in STAT1, CARD9 and PKC-DELTA in patients with chronic mucocutaneous candidiasis	2012
Dr Jonathan Lane Dr Mary Slatter Professor Sophie Hambleton Dr Terence Flood Professor Andrew Cant et al.	Outcome of haematopoietic stem cell transplantation in patients with chronic granulomatous disease at a national centre	2012
Professor Sophie Hambleton Dr Terence Flood Professor Andrew Cant Dr Mario Abinun Dr Mary Slatter et al.	Outcome of haematopoietic stem cell transplantation in patients with major histocompatibility class II deficiency at a national centre	2012
Dr Mario Abinun Dr Sharmila Jandial	Profound muscle weakness with neurological and renal involvement: JDM or not?	2012
Dr Mario Abinun Dr Sharmila Jandial	Profound muscle weakness with neurological and renal involvement: JDM or not?	2012
Dr Mary Slatter Kasturi Rao Dr Terence Flood Dr Mario Abinun Professor Andrew Cant et al.	Treosulfan, fludarabine and alemtuzumab conditioning for haematopoietic stem cell transplantation in children with chronic granulomatous disease: experience in three centres	2012
Dr Mario Abinun Professor Andrew Cant Professor Sophie Hambleton Dr Stephen Owens	When should the FAS gene be sequenced in patients with lymphoproliferation and autoimmunity	2012
Dr Helen Griffin Dr David McDonald Dr Rachel Dickinson Angela Grainger Dr Louise Reynard et al.	Whole exome sequencing as a diagnostic tool in primary immunodeficiency	2012
Professor Sophie Hambleton Dr Mario Abinun James Tomalin	Forkhead box protein 3 (FOXP3) mutations lead to increased T(H)17 cell numbers and regulatory T-cell instability	2011
Dr Mary Slatter Professor Sophie Hambleton Dr Terence Flood Dr Mario Abinun Professor Andrew Cant et al.	Immune reconstitution post umbilical cord blood stem cell transplantation for primary immunodeficiency in a national centre	2011
Dr Mary Slatter Dr Brian Angus Dr Kevin Windebank Professor Sophie Hambleton Dr Mario Abinun et al.	Polymorphous lymphoproliferative disorder with Hodgkin-like features in common gamma-chain-deficient severe combined immunodeficiency	2011
Dr Mary Slatter Dr Terence Flood Dr Mario Abinun Professor Sophie Hambleton Professor Andrew Cant et al.	Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience	2011
Dr Suzy Leech Dr Mario Abinun	Acute haemorrhagic oedema of infancy-a case of benign cutaneous leucocytoclastic vasculitis	2010
Professor Andrew Cant Dr Mario Abinun Dr Desa Lilic	Autoantibodies against IL-17A, IL-17F and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I	2010
Dr Mary Slatter Dr Terence Flood Professor Sophie Hambleton Emerita Professor Helen Foster Professor Andrew Cant et al.	Autologous (T-cell depleted) or allogeneic haematopoietic stem cell transplantation for treatment of recalcitrant, severe autoimmune/rheumatic disorders in children?	2010
Dr Mario Abinun	Autologous hematopoietic stem cell transplantation for childhood autoimmune disease	2010
Melanie Gomes Dr Mario Abinun Professor Sophie Hambleton Professor Andrew Cant Dr Terence Flood et al.	Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency	2010
Dr Sara Mannurita Dr Mario Abinun Professor Andrew Gennery Professor Sophie Hambleton Dr Mary Slatter et al.	Exploring 'IPEX-like Syndrome': What is Beyond FOXP3 Gene?	2010
Professor Fai Ng Dr Alexei von Delwig Dr Andrew Carmichael Dr Mario Abinun Professor Andrew Cant et al.	Impaired T_H17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	2010
Dr Vankateswara Ramesh Dr Mario Abinun Patrick Mitchell	Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis	2010
Dr Mario Abinun Professor Matthew Wright	Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: Report of 20 novel mutations	2010
Professor Andrew Gennery Dr Mario Abinun Professor Andrew Cant	Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome	2010
Professor Andrew Gennery Dr Mario Abinun Professor Andrew Cant	Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE Syndrome	2010
Dr Mary Slatter Dr Stephen Hodges Dr Julian Thomas Professor Sophie Hambleton Dr Terence Flood et al.	Single-centre experience of haematopoeitic stem cell transplantation for patients with complex autoimmune enteropathies	2010
Dr Anna Basu Dr Anita Devlin Dr Mario Abinun Dr Ki Pang	Spotting the wolf in sheep's clothing	2010
Dr Mario Abinun Dr Piotr Pieniazek	Successful haematopoietic stem cell transplantation or osteopetrosis due to TCRIG1 mutation	2010
Dr Mary Slatter Dr Sheila Patel Professor Sophie Hambleton Dr Terence Flood Professor Andrew Cant et al.	Transplantation of CD3/CD19 depleted PBSC leading to viral clearance and no graft-versus-host disease in SCID	2010
Dr Mario Abinun Dr Rob Forsyth Dr Vankateswara Ramesh	Treatment of primary angiitis of the central nervous system in childhood with mycophenolate mofetil	2010
Dr Mary Slatter Dr Terence Flood Dr Mario Abinun Professor Andrew Cant Professor Sophie Hambleton et al.	UK experience of treosulfan-based conditioning regimens in children with primary immunodeficiency	2010
Dr Mario Abinun Dr Terence Flood Professor Andrew Cant Professor Andrew Gennery Emerita Professor Helen Foster et al.	Autologous T cell depleted haematopoietic stem cell transplantation in children with severe juvenile idiopathic arthritis in the UK (2000-2007)	2009
Dr Arun Gupta Dr Michael McKean Dr Christopher Wright Dr Terence Flood Katherine Gould et al.	Chronic granulomatous disease presenting as fulminant Aspergillus pneumonitis: A lethal combination?	2009
Dr Neil Rajan Dr Mario Abinun Dr David Spencer Dr Andrew Carmichael	Idiopathic Infantile Pyoderma Gangrenosum with Stridor Responsive to Infliximab	2009
Dr Kevin Windebank Dr Brian Angus Dr Mario Abinun Dr Terence Flood Professor Andrew Cant et al.	Malignancy as a presentation of common gamma chain deficient severe combined immunodeficiency	2009
Dr Mario Abinun	Mucormycosis in chronic granulomatous disease: Association with iatrogenic immunosuppression	2009
Elizabeth Rogerson Dr Terence Flood Dr Mario Abinun Professor Andrew Cant Dr Julian Thomas et al.	Nutritional assessment of children undergoing haematopoietic stem cell transplantation for primary immunodeficiency or severe autoimmune disease	2009
Dr Min Hong Professor Andrew Gennery Professor Andrew Cant Dr Mario Abinun Professor David Young et al.	Pattern recognition receptor expression is not impaired in patients with chronic mucocutanous candidiasis with or without autoimmune polyendocrinopathy candidiasis ectodermal dystrophy	2009
Dr Laura Jones Dr Stephen Hodges Dr Terence Flood Dr Gavin Spickett Professor Graham Jackson et al.	Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth	2009
Professor Andrew Gennery Dr Nicholas Bown Dr Terence Flood Professor Andrew Cant Dr Mario Abinun et al.	Assessment of reduced intensity conditioning regimens for haematopoietic stem cell transplantation in primary immunodeficiency	2008
Dr Desa Lilic Dr Kelli Ryan Professor Andrew Gennery Professor Andrew Cant Dr Mario Abinun et al.	Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I	2008
Professor Andrew Gennery Dr Mario Abinun	Diagnostic criteria for the hyper IgE recurrent infection syndrome/Job's syndrome/STAT3 deficiency	2008
Dr Mario Abinun Dr Terence Flood Professor Andrew Gennery Dr Clark Clark Professor Andrew Cant et al.	EDA-ID due to NEMO mutation complicated by disseminated mycobacterium infection: successful haematopoietic stem cell transplantation	2008
Dr Terence Flood Dr Gavin Spickett Professor Graham Jackson Professor Matthew Collin Dr Mario Abinun et al.	Haematopoeitic stem cell transplantation for chronic granulomatous disease - a single-centre experience	2008
Dr Mario Abinun	Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations	2008
Dr Min Hong Professor Andrew Gennery Professor Andrew Cant Dr Mario Abinun Dr Gavin Spickett et al.	Impaired dendritic cell maturation and cytokine production in patients with chronic mucocutanous candidiasis with or without APECED	2008
Professor Fai Ng Dr Alexei von Delwig Dr Andrew Carmichael Dr Mario Abinun Dr Desa Lilic et al.	Impaired Th-17 responses in patients with chronic mucocutaneous candidiasis	2008
Dr Alexei von Delwig Professor Fai Ng Dr Andrew Carmichael Dr Mario Abinun Dr Desa Lilic et al.	Impaired Th-17 responses in patients with chronic mucocutaneous candidiasis	2008
Professor Anne Dickinson Dr Nicholas Bown Professor Andrew Cant Dr Mario Abinun Professor Andrew Gennery et al.	Long-term immune reconstitution after anti-CD52-treated or anti-CD34-treated hematopoietic stem cell transplantation for severe T-lymphocyte immunodeficiency	2008
Dr Kevin Windebank Dr Brian Angus Dr Petra Dildey Dr Mario Abinun Dr Terence Flood et al.	Malignancy as a presentation of common gamma chain deficient severe combined immunodeficiency	2008
Professor Andrew Gennery Dr Andrew McLean-Tooke Dr Tara Montgomery Professor Judith Goodship Professor Alastair Burt et al.	Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome	2008
Dr Mario Abinun	Recently identified factors predisposing children to infectious diseases	2008
Dr Mario Abinun Dr Christopher Wright Katherine Gould Dr Terence Flood Dr Jane Cassidy et al.	Absidia corymbifera in a patient with chronic granulomatous disease	2007
Dr Mario Abinun Dr Mary Slatter Professor Andrew Gennery	Bone marrow transplant for systemic lupus erythematosis; a case study	2007
Dr Mary Slatter Dr Terence Flood Professor Andrew Cant Dr Mario Abinun Professor Andrew Gennery et al.	Comparison of immune reconstitution following anti-CD52 T-cell depleted haematopoietic stem cell transplant versus CD34+positive stem cell selection for SCID in a single centre	2007
Emerita Professor Helen Foster Mick Eltringham Dr Lesley Kay Dr Mario Abinun Dr Andrea Myers et al.	Delay in access to appropriate care for children presenting with musculoskeletal symptoms and ultimately diagnosed with juvenile idiopathic arthritis	2007
Dr Mario Abinun	Fulminant mulch pneumonitis: An emergency presentation of chronic granulomatous disease	2007
Dr Fareeda Coxon Dr Mario Abinun Professor Andrew Cant	Identification of novel mutations in rankl as a cause of osteoclast-poor osteopetrosis	2007
Dr Mario Abinun	Immunodeficiencies with associated manifestations of skin, hair, teth, and skeleton	2007
Dr Mario Abinun Professor Andrew Cant	Mevalonic aciduria cured by bone marrow transplantation	2007
Professor Andrew Gennery Dr Mary Slatter Dr Andrew McLean-Tooke Professor Judith Goodship Professor Alastair Burt et al.	Ommenn syndrome may be caused by mutations in the CHD7 gene	2007
Dr Mario Abinun Professor Andrew Cant	Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL	2007
Dr Mary Slatter Dr Vankateswara Ramesh Dr Terence Flood Dr Mario Abinun Professor Andrew Cant et al.	Outcome of hematopoietic stem cell transplantation in severe combined immune deficiency with central nervous system viral infection	2007
Dr Mary Slatter Elizabeth Rogerson Claire Taylor Dr Angela Galloway Dr Clark Clark et al.	Value of bronchoalveolar lavage before haematopoietic stem cell transplantation for primary immunodeficiency or autoimmune diseases	2007
Dr Mario Abinun	Arthritis in pediatric patients with primary antibody deficiency syndromes	2006
Emerita Professor Helen Foster Dr John Davidson Dr Mario Abinun	Autologous haematopoeitic stem cell rescue (AHSCR) for severe rheumatic disease in children: Guidance for BSPAR members - Executive summary	2006
Dr Mario Abinun Emerita Professor Helen Foster	Hemophagocytosis during fludarabine-based SCT for systemic juvenile idiopathic arthritis	2006
Professor Andrew Gennery Dr Mario Abinun Dr Terence Flood Professor Andrew Cant	Human herpesvirus-6 viraemia in children with primary immunodeficiency undergoing stem-cell-transplantation	2006
Dr Mario Abinun	Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity	2006
Dr Mario Abinun	Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement	2006
Dr Mary Slatter Dr Baidik Bhattacharya Dr Terence Flood Dr Mario Abinun Professor Andrew Cant et al.	Use of two unrelated umbilical cord stem cell units in stem cell transplantation for Wiskott-Aldrich syndrome	2006
Dr Mario Abinun Emerita Professor Helen Foster	[abstract] Autologous haematopoetic stem cell transplantation for refractory juvenile idiopathic arthritis in the UK: experience 2000 - 2005	2005
Dr Mary Slatter Dr Mario Abinun Dr Terence Flood Professor Andrew Cant Dr Margaret Wright et al.	Adenovirus type F subtype 41 causing disseminated disease following bone marrow transplantation for immunodeficiency	2005
Professor Andrew Gennery Dr Mary Slatter Dr Terence Flood Dr Stephen Hodges Professor Andrew Cant et al.	Bone marrow transplantation for IPEX-like syndrome	2005
Professor Andrew Gennery Dr Mary Slatter Dr Mario Abinun Professor Andrew Cant	Bone marrow transplantation for Nijmegan breakage syndrome	2005
Dr Mario Abinun Dr Claire Bethune Dr Anne Fay Angela Price Maria Price et al.	C1 inhibitor deficiency: consensus document	2005
Dr Andrea Myers Dr Terence Flood Emerita Professor Helen Foster Dr Mario Abinun	Case report of successful management of macrophage activation syndrome (MAS) following autologous T cell depleted stem cell transplantation (ASCT) for Systemic Onset Juvenile Idiopathic Arthritis (SOJIA)	2005
Dr Mary Slatter Dr Vankateswara Ramesh Dr Terence Flood Dr Mario Abinun Professor Andrew Cant et al.	Outcome of bone marrow transplantation in severe combined immunodeficiency with central nervous system viral infection	2005
Dr Mary Slatter Dr Mario Abinun Dr Terence Flood Professor Andrew Cant Professor Andrew Gennery et al.	Outcome of boost haemopoietic stem cell transplant for decresed donor chimerism or graft dysfunction in primary immunodeficiency	2005
Sue Bruce Dr David Spencer Dr David Crawford Dr Angela Galloway Dr Nigel Cooper et al.	Postmortem diagnosis of chronic granulomatous disease: How worthwhile is it?	2005
Sue Bruce Dr David Spencer Dr David Crawford Dr Angela Galloway Dr Nigel Cooper et al.	Postmortem diagnosis of chronic granulomatous disease: how worthwhile is it?	2005
Dr Mary Slatter Dr Terence Flood Dr Mario Abinun Professor Andrew Cant Professor Andrew Gennery et al.	Single centre experience of umbilical cord stem cell transplantation for primary immunodeficiency	2005
Dr Mario Abinun Emerita Professor Helen Foster	Autologous stem cell transplantation for refractory juvenile idiopathic arthritis: Analysis of clinical effects, mortality, and transplant related morbidity	2004
Dr Andrea Myers Mick Eltringham Dr Mario Abinun Dr Lesley Kay Emerita Professor Helen Foster et al.	Delay to paed rheum care for children with suspected JIA	2004
Dr Mario Abinun Dr Desa Lilic	Long-term follow-up of children with primary hypogammaglobulinemia in Yugoslavia	2004
Dr Mary Slatter Dr Mario Abinun Dr Terence Flood Professor Andrew Cant Professor Andrew Gennery et al.	Outcome of boost haemopoietic stem cell transplant for decrease in donor chimerism or graft dysfunction in primary immunodeficiency	2004
Dr Mario Abinun Emerita Professor Helen Foster	Pyrexia of unknown origin	2004
Dr Mario Abinun Emerita Professor Helen Foster	Pyrexia of unknown origin. Probelm solving in clinical practice	2004
Professor Andrew Gennery Dr Mary Slatter Dr Terence Flood Dr Mario Abinun Professor Andrew Cant et al.	Successful bone marrow transplantation for immunodeficiency, centromere instability and facial anomalies syndrome	2004
Professor Andrew Gennery Dr Mary Slatter Shaun Haigh Dr Mario Abinun Dr Terence Flood et al.	The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia	2004
Dr Mary Slatter Professor Andrew Gennery Professor Timothy Cheetham Dr Terence Flood Professor Andrew Cant et al.	Thyroid dysfunction after bone marrow transplantation for primary immunodeficiency without the use of total body irradiation in conditioning	2004
Dr Mary Slatter Dr Terence Flood Dr Mario Abinun Professor Andrew Cant Professor Andrew Gennery et al.	Use of two unrelated umbilical cord stem cell units in stem cell transplantation for Wiskott Aldrich syndrome	2004
Professor Andrew Gennery Dr Terence Flood Dr Gavin Spickett Dr Mario Abinun	Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO	2003
Professor Andrew Gennery Dr Terence Flood Dr Mario Abinun Dr Gavin Spickett Professor Andrew Cant et al.	Assessing immune responses to pneumococcal vaccines	2003
Dr Mario Abinun Emerita Professor Helen Foster	Autologous haematopoietic stem cell transplantation in juvenile idiopathic arthritis	2003
Dr Mario Abinun Emerita Professor Helen Foster	Autologous stem cell transplantation as a treatment for severe juvenile arthritis	2003
Dr Mario Abinun	Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis	2003
Dr Desa Lilic Dr Ian Gravenor Neil Robson Emerita Professor Jane Calvert Professor Andrew Cant et al.	Deregulated production of protective cytokines in response to Candida albicans infection in patients with chronic mucocutaneous candidiasis	2003
Amit Patel Emerita Professor Helen Foster Dr Mario Abinun	Long term follow up immune repertoire after severe immunosuppression and autologous stem cell transplantation (ASCT) in children with juvenile idiopathic arthritis (JIA)	2003
Amit Patel Emerita Professor Helen Foster Dr Mario Abinun	Long term follow up of immune repertoire after severe immunosuppression and autologous stem cell rescue in children with juvenile idiopathic arthritis.	2003
Dr Desa Lilic Dr Mario Abinun	Long-term follow-up and prognosis of chronic granulomatous disease in Yugoslavia: Is there a role for early bone marrow transplantation?	2003
Professor Carel ten Cate Emerita Professor Helen Foster Dr Mario Abinun	Long-term follow-up of autologous stem cell transplantation for refractory juvenile idiopathic arthritis	2003
Professor Andrew Cant Dr Mario Abinun	Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99	2003
Dr Mary Slatter Dr Terence Flood Dr Gavin Spickett Professor Andrew Cant Dr Mario Abinun et al.	Polysaccharide antibody responses are impaired post bone marrow transplantation for severe combined immunodefiency, but not other primary immunodefeciencies	2003
Professor Andrew Cant Dr Mario Abinun Dr Terence Flood Dr Stephen Hodges Dr Juliet Hale et al.	Recombinant tissue plasminogen activator for treatment of hepatic veno-occlusive disease following bone marrow transplantation in children: effectiveness and a scoring system for initiating treatment	2003
Dr Andrea Myers Dr Mario Abinun Dr Lesley Kay Emerita Professor Helen Foster	Referral delays for children with juvenile idiopathic arthritis	2003
Dr Mary Slatter Dr Ann Curtis Dr Terence Flood Dr Mario Abinun Professor Andrew Cant et al.	Successful umbilical cord blood stem cell transplantation for chronic granulomatous disease	2003
Dr Sharmila Das Dr Aileen Taylor Dr Andrew Carmichael Dr Mario Abinun	Widespread idiopathic pyoderma gangrenosum in infancy treated successfully with infliximab	2003
Professor Andrew Gennery Dr John O'Sullivan Dr Terence Flood Dr Mario Abinun Professor Andrew Cant et al.	Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome	2002
Dr Mario Abinun Professor Andrew Cant	Autoimmunity in human primary immunodeficiency diseases	2002
Dr Anne Fay Dr Mario Abinun	Current management of hereditary angio-oedema (C ' 1 esterase inhibitor deficiency)	2002
Dr Mario Abinun	Pityriasis lichenoides in a girl with the granulomatous form of common variable immunodeficiency	2002
Professor Andrew Gennery Dr Terence Flood Dr Mario Abinun Professor Andrew Cant	Bone marrow transplantation for CD40 ligand deficiency: a single centre experience	2001
Professor Andrew Gennery Professor Anne Dickinson Kenneth Brigham Dr Gavin Spickett Dr Ann Curtis et al.	CAMPATH-1M T-cell depleted BMT for SCID: Long-term follow-up of 19 children treated 1987-98 in a single center	2001
Professor Andrew Gennery Professor Anne Dickinson Kenneth Brigham Dr Gavin Spickett Dr Ann Curtis et al.	CAMPATH-1M T-cell depleted BMT for SCID: long-term follow-up of 19 children treated 1987-98 in a single center	2001
Dr Terence Flood Dr Mario Abinun Dr Clark Clark Professor Andrew Cant	Lesson of the week - Recurrent bacterial meningitis: the need for sensitive imaging	2001
Professor Andrew Gennery Dr Terence Flood Dr Mario Abinun Professor Andrew Cant	Neonatal bone marrow transplantation for severe combined immunodeficiency	2001
Dr Mario Abinun	Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency	2001
Dr Simon Hoare Dr Mario Abinun	Septic shock, meningitis and adrenal hemorrhages in a twelve-year-old	2001
Dr Simon Hoare Dr Mario Abinun	Septic shock, meningitis and adrenal hemorrhages in a twelve-year-old. Toxic shock-like syndrome accompanied by meningitis and bilateral adrenal hemorrhage	2001
Professor Andrew Gennery Dr Mario Abinun Dr Terence Flood Professor Andrew Cant	Single Supraregional Centre Experience of Bone Marrow Transplantation for CD40L Deficiency	2001
Dr Mario Abinun	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations	2001
Dr Mario Abinun	X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling	2001
Professor Andrew Gennery Dr Terence Flood Dr Mario Abinun Professor Andrew Cant	Bone marrow transplantation does not correct the hyper IgE syndrome	2000
Dr Mario Abinun	Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis	2000
Dr Ben Cole Dr Mario Abinun	Dental manifestations in severe combined immunodeficiency following bone marrow transplantation	2000
Dr Mario Abinun Professor Andrew Cant	Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia	2000
Dr Mario Abinun	N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains	2000
Dr Andrew Turner Dr Mario Abinun Dr Terence Flood Professor Andrew Cant	Respiratory viral infections in primary immune deficiencies: significance and relevance to clinical outcome in a single BMT unit	2000
Dr Janet Berrington Dr Terence Flood Dr Mario Abinun Dr Angela Galloway Professor Andrew Cant et al.	Unsuspected Pneumocystis carinii pneumonia at presentation of severe primary immunodeficiency	2000
Dr Andrew Turner Dr Mario Abinun Dr Terence Flood Professor Andrew Cant	Clinical experience of respiratory viral infections in children undergoing bone marrow transplantation for primary immunodeficiencies	1999
Dr Mario Abinun	Hereditary angio-oedema in children	1999
Dr Mario Abinun Professor Andrew Cant	Importance of neurological assessment before bone marrow transplantation for osteopetrosis	1999
Nicholas Strong Dr Mario Abinun Emeritus Professor Alan Craft Emerita Professor Helen Foster	An audit of screening for chronic anterior uveitis in juvenile chronic arthritis	1997
Professor Roderick Skinner Dr Michael Barer Professor John Magee Dr Mario Abinun Professor Andrew Cant et al.	Disseminated BCG infection in severe combined immunodeficiency presenting with severe anaemia and associated with gross hypersplenism after bone marrow transplantation	1996