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Browsing publications by Dr Mario Abinun.

Newcastle AuthorsTitleYearFull text
Dr Timothy Cheetham
Mike Cole
Dr Mario Abinun
Dr Sonya Carnell
Jon Prichard
et al.
Adjuvant Rituximab-Exploratory Trial in Young People With Graves Disease2022
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 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 Immunodeficiency2022
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 SMARCD22021
Dr Mario Abinun
Dr Mary Slatter
Haematopoietic stem cell transplantation in paediatric rheumatic disease2021
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 Syndrome2021
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) syndrome2021
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 Diseases2021
Dr Su Han Lum
Dr Zohreh Nademi
Dr Terence Flood
Dr Timothy Cheetham
Dr Mario Abinun
et al.
Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency2021
Dr Mario Abinun
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants2021
Dr Mario Abinun
Professor Andrew Gennery
Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome2020
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 deficiency2020
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 immunodeficiency2020
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 trial2019
Dr Mario Abinun
Professor Andrew Gennery
Allogeneic HSCT for Autoimmune Diseases: A Retrospective Study From the EBMT ADWP, IEWP, and PDWP Working Parties2019
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) deficiency2019
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 report2019
Dr Christopher Bacon
Dr Mario Abinun
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation2018
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 mutations2018
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 mutations2018
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 experience2018
Dr Mario Abinun
Risks of serious infections in children treated with biologic response-modifying drugs2018
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 deficiency2018
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 Experience2018
Dr Stephen Owens
Dr David Crossland
Dr Terence Flood
Dr Mario Abinun
Aggressive anti-inflammatory treatment for refractory Kawasaki disease2017
Dr Christopher Bacon
Dr Mario Abinun
Professor Andrew Cant
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study2017
Dr Mary Slatter
Dr Mario Abinun
Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene2017
Professor Andrew Gennery
Dr Mario Abinun
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations2017
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 Sequencing2017
Dr Katherine Crossland
Dr Mario Abinun
Dr Timothy Cheetham
Professor Simon Pearce
Dr Catharien Hilkens
et al.
AIRE is not essential for the induction of human tolerogenic dendritic cells2016
Dr Mario Abinun
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease2016
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 Deficiency2016
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 NLRP32016
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 disease2016
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 syndrome2016
Dr Mary Slatter
Dr Karin Engelhardt
Dr Zohreh Nademi
Dr Mario Abinun
Professor Andrew Gennery
et al.
Hematopoietic stem cell transplantation for CTLA4 deficiency2016
Dr Mario Abinun
Dr Jonathan Lane
Dr Terence Flood
Emerita Professor Helen Foster
Infection-Related Death among Persons with Refractory Juvenile Idiopathic Arthritis2016
Dr Siobhan Muthiah
Dr Sivakumar Natarajan
Dr Mario Abinun
Dr Suzy Leech
A case of Aicardi-Goutieeres syndrome illustrating the clinical heterogeneity of this disorder2015
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 Immunodeficiency2015
Dr Christopher Bacon
Dr Mario Abinun
Professor Andrew Cant
Activated PI3-Kinase Delta Syndrome: Clinical, Radiological And Laboratory Features Of A Large Cohort2015
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 Hepatitis2015
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 transplantation2015
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 cases2015
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 Sequencing2015
Dr Mario Abinun
Dr Suzy Leech
Idiopathic infantile pyoderma gangrenosum: our experience2015
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 Mutations2015
Dr Zohreh Nademi
Dr Mario Abinun
Severe combined immunodeficiency syndrome presenting with disseminated BCG infection2015
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 diseases2015
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 Mutation2015
Dr Mario Abinun
A UK national audit of hereditary and acquired angioedema2014
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 deficiency2014
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 experience2014
Professor Sophie Hambleton
Dr Mario Abinun
Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA22014
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 candidiasis2014
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 children2014
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 experience2014
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 Syndrome2014
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 Cases2014
Dr Mario Abinun
Dr Eleonora Gambineri
ICON: The early diagnosis of congenital immunodeficiencies2014
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 transplantation2014
Dr Mario Abinun
Dr Stephen Hodges
Dr 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 Immunodeficiencies2014
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 Stature2014
Dr Katherine Crossland
Professor Simon Pearce
Dr Mario Abinun
Dr Timothy Cheetham
Dr Catharien Hilkens
et al.
Role of Aire in the Induction of Human Tolerogenic Dendritic Cells2014
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 syndrome2014
Dr Mario Abinun
Professor Andrew Cant
Professor Andrew Gennery
STAT3-Deficient Hyper Ige Syndrome in a Pediatric Cohort2014
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 experience2014
Dr Mario Abinun
Professor Andrew Cant
Dr Desa Lilic
Treatment Options for Severe Immunodeficiency Due to Gain-of-Function STAT-1 Mutation2014
Dr Akash Sinha
Dr Mario Abinun
Professor Andrew Gennery
Dr Mary Slatter
Dr Timothy Cheetham
et al.
Graves' Immune Reconstitution Inflammatory Syndrome in Childhood2013
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 immunodeficiency2013
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 Deficiency2013
Dr Mario Abinun
Professor Andrew Cant
Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage2013
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 cytopenia2013
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 Pain2013
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 II2012
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 deficiency2012
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 autoimmunity2012
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 candidiasis2012
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 HSCT2012
Dr Eleonora Gambineri
Dr Sara Mannurita
Dr Helen Robertson
Professor Sophie Hambleton
Professor Andrew Gennery
et al.
Gut Immune Reconstitution in IPEX Syndrome After HSCT2012
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 1997-20092012
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 recombination2012
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 Newcastle2012
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 deficiency2012
Dr Mario Abinun
Professor Andrew Gennery
Dr Desa Lilic
Mutation screening in STAT1, CARD9 and PKC-DELTA in patients with chronic mucocutaneous candidiasis2012
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 centre2012
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 centre2012
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 centres2012
Dr Mario Abinun
Professor Andrew Cant
Professor Sophie Hambleton
Dr Stephen Owens
When should the FAS gene be sequenced in patients with lymphoproliferation and autoimmunity2012
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 immunodeficiency2012
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 instability2011
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 centre2011
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 immunodeficiency2011
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 experience2011
Dr Suzy Leech
Dr Mario Abinun
Acute haemorrhagic oedema of infancy-a case of benign cutaneous leucocytoclastic vasculitis2010
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 I2010
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 disease2010
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 immunodeficiency2010
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 TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy2010
Dr Vankateswara Ramesh
Dr Mario Abinun
Patrick Mitchell
Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis2010
Dr Mario Abinun
Professor Matthew Wright
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: Report of 20 novel mutations2010
Professor Andrew Gennery
Dr Mario Abinun
Professor Andrew Cant
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome2010
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 Syndrome2010
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 enteropathies2010
Dr Anna Basu
Dr Anita Devlin
Dr Mario Abinun
Dr Ki Pang
Spotting the wolf in sheep's clothing2010
Dr Mario Abinun
Dr Piotr Pieniazek
Successful haematopoietic stem cell transplantation or osteopetrosis due to TCRIG1 mutation2010
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 SCID2010
Dr Mario Abinun
Dr Rob Forsyth
Dr Vankateswara Ramesh
Treatment of primary angiitis of the central nervous system in childhood with mycophenolate mofetil2010
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 immunodeficiency2010
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 Infliximab2009
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 immunodeficiency2009
Dr Mario Abinun
Mucormycosis in chronic granulomatous disease: Association with iatrogenic immunosuppression2009
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 disease2009
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 dystrophy2009
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 growth2009
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 immunodeficiency2008
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 I2008
Professor Andrew Gennery
Dr Mario Abinun
Diagnostic criteria for the hyper IgE recurrent infection syndrome/Job's syndrome/STAT3 deficiency2008
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 transplantation2008
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 experience2008
Dr Mario Abinun
Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations2008
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 APECED2008
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 candidiasis2008
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 candidiasis2008
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 immunodeficiency2008
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 immunodeficiency2008
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 syndrome2008
Dr Mario Abinun
Recently identified factors predisposing children to infectious diseases2008
Dr Mario Abinun
Dr Christopher Wright
Katherine Gould
Dr Terence Flood
Dr Jane Cassidy
et al.
Absidia corymbifera in a patient with chronic granulomatous disease2007
Dr Mario Abinun
Dr Mary Slatter
Professor Andrew Gennery
Bone marrow transplant for systemic lupus erythematosis; a case study2007
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 centre2007
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 arthritis2007
Dr Mario Abinun
Fulminant mulch pneumonitis: An emergency presentation of chronic granulomatous disease2007
Dr Fareeda Coxon
Dr Mario Abinun
Professor Andrew Cant
Identification of novel mutations in rankl as a cause of osteoclast-poor osteopetrosis2007
Dr Mario Abinun
Immunodeficiencies with associated manifestations of skin, hair, teth, and skeleton2007
Dr Mario Abinun
Professor Andrew Cant
Mevalonic aciduria cured by bone marrow transplantation2007
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 gene2007
Dr Mario Abinun
Professor Andrew Cant
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL2007
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 infection2007
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 diseases2007
Dr Mario Abinun
Arthritis in pediatric patients with primary antibody deficiency syndromes2006
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 summary2006
Dr Mario Abinun
Emerita Professor Helen Foster
Hemophagocytosis during fludarabine-based SCT for systemic juvenile idiopathic arthritis2006
Professor Andrew Gennery
Dr Mario Abinun
Dr Terence Flood
Professor Andrew Cant
Human herpesvirus-6 viraemia in children with primary immunodeficiency undergoing stem-cell-transplantation2006
Dr Mario Abinun
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity2006
Dr Mario Abinun
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement2006
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 syndrome2006
Dr Mario Abinun
Emerita Professor Helen Foster
[abstract] Autologous haematopoetic stem cell transplantation for refractory juvenile idiopathic arthritis in the UK: experience 2000 - 20052005
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 immunodeficiency2005
Professor Andrew Gennery
Dr Mary Slatter
Dr Terence Flood
Dr Stephen Hodges
Professor Andrew Cant
et al.
Bone marrow transplantation for IPEX-like syndrome2005
Professor Andrew Gennery
Dr Mary Slatter
Dr Mario Abinun
Professor Andrew Cant
Bone marrow transplantation for Nijmegan breakage syndrome2005
Dr Mario Abinun
Dr Claire Bethune
Dr Anne Fay
Angela Price
Maria Price
et al.
C1 inhibitor deficiency: consensus document2005
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 infection2005
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 immunodeficiency2005
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 immunodeficiency2005
Dr Mario Abinun
Emerita Professor Helen Foster
Autologous stem cell transplantation for refractory juvenile idiopathic arthritis: Analysis of clinical effects, mortality, and transplant related morbidity2004
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 JIA2004
Dr Mario Abinun
Dr Desa Lilic
Long-term follow-up of children with primary hypogammaglobulinemia in Yugoslavia2004
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 immunodeficiency2004
Dr Mario Abinun
Emerita Professor Helen Foster
Pyrexia of unknown origin2004
Dr Mario Abinun
Emerita Professor Helen Foster
Pyrexia of unknown origin. Probelm solving in clinical practice2004
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 syndrome2004
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 anemia2004
Dr Mary Slatter
Professor Andrew Gennery
Dr 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 conditioning2004
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 syndrome2004
Professor Andrew Gennery
Dr Terence Flood
Dr Gavin Spickett
Dr Mario Abinun
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO2003
Professor Andrew Gennery
Dr Terence Flood
Dr Mario Abinun
Dr Gavin Spickett
Professor Andrew Cant
et al.
Assessing immune responses to pneumococcal vaccines2003
Dr Mario Abinun
Emerita Professor Helen Foster
Autologous haematopoietic stem cell transplantation in juvenile idiopathic arthritis2003
Dr Mario Abinun
Emerita Professor Helen Foster
Autologous stem cell transplantation as a treatment for severe juvenile arthritis2003
Dr Mario Abinun
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis2003
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 candidiasis2003
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 arthritis2003
Professor Andrew Cant
Dr Mario Abinun
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-992003
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 immunodefeciencies2003
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 treatment2003
Dr Andrea Myers
Dr Mario Abinun
Dr Lesley Kay
Emerita Professor Helen Foster
Referral delays for children with juvenile idiopathic arthritis2003
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 disease2003
Dr Sharmila Das
Dr Aileen Taylor
Dr Andrew Carmichael
Dr Mario Abinun
Widespread idiopathic pyoderma gangrenosum in infancy treated successfully with infliximab2003
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 syndrome2002
Dr Mario Abinun
Professor Andrew Cant
Autoimmunity in human primary immunodeficiency diseases2002
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 immunodeficiency2002
Professor Andrew Gennery
Dr Terence Flood
Dr Mario Abinun
Professor Andrew Cant
Bone marrow transplantation for CD40 ligand deficiency: a single centre experience2001
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 center2001
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 center2001
Dr Terence Flood
Dr Mario Abinun
Dr Clark Clark
Professor Andrew Cant
Lesson of the week - Recurrent bacterial meningitis: the need for sensitive imaging2001
Professor Andrew Gennery
Dr Terence Flood
Dr Mario Abinun
Professor Andrew Cant
Neonatal bone marrow transplantation for severe combined immunodeficiency2001
Dr Mario Abinun
Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency2001
Dr Simon Hoare
Dr Mario Abinun
Septic shock, meningitis and adrenal hemorrhages in a twelve-year-old2001
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 hemorrhage2001
Professor Andrew Gennery
Dr Mario Abinun
Dr Terence Flood
Professor Andrew Cant
Single Supraregional Centre Experience of Bone Marrow Transplantation for CD40L Deficiency2001
Dr Mario Abinun
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations2001
Dr Mario Abinun
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling2001
Professor Andrew Gennery
Dr Terence Flood
Dr Mario Abinun
Professor Andrew Cant
Bone marrow transplantation does not correct the hyper IgE syndrome2000
Dr Mario Abinun
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis2000
Dr Ben Cole
Dr Mario Abinun
Dental manifestations in severe combined immunodeficiency following bone marrow transplantation2000
Dr Mario Abinun
Professor Andrew Cant
Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia2000
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 domains2000
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 unit2000
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 immunodeficiency2000
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 immunodeficiencies1999
Dr Mario Abinun
Hereditary angio-oedema in children1999
Dr Mario Abinun
Professor Andrew Cant
Importance of neurological assessment before bone marrow transplantation for osteopetrosis1999
Nicholas Strong
Dr Mario Abinun
Emeritus Professor Alan Craft
Emerita Professor Helen Foster
An audit of screening for chronic anterior uveitis in juvenile chronic arthritis1997
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 transplantation1996