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Mario Abinun
Mario Abinun
Emeritus Consultant, Associate Lecturer, Institute of Cellular Medicine, Newcastle University
在 ncl.ac.uk 的电子邮件经过验证
标题
引用次数
引用次数
年份
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
R Döffinger, A Smahi, C Bessia, F Geissmann, J Feinberg, A Durandy, ...
Nature genetics 27 (3), 277-285, 2001
9452001
2016 classification criteria for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a European League Against Rheumatism/American College of …
A Ravelli, F Minoia, S Davì, AC Horne, F Bovis, A Pistorio, M Aricò, ...
Arthritis & rheumatology 68 (3), 566-576, 2016
8822016
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
A Frattini, PJ Orchard, C Sobacchi, S Giliani, M Abinun, JP Mattsson, ...
Nature genetics 25 (3), 343-346, 2000
8202000
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
A Puel, R Döffinger, A Natividad, M Chrabieh, G Barcenas-Morales, ...
Journal of Experimental Medicine 207 (2), 291-297, 2010
8182010
Early-onset stroke and vasculopathy associated with mutations in ADA2
Q Zhou, D Yang, AK Ombrello, AV Zavialov, C Toro, AV Zavialov, ...
New England Journal of Medicine 370 (10), 911-920, 2014
8152014
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
Y Minegishi, M Saito, T Morio, K Watanabe, K Agematsu, S Tsuchiya, ...
Immunity 25 (5), 745-755, 2006
8102006
Clinical spectrum of X-linked hyper-IgM syndrome
J Levy, T Espanol-Boren, C Thomas, A Fischer, P Tovo, P Bordigoni, ...
The Journal of pediatrics 131 (1), 47-54, 1997
7651997
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage
I Angulo, O Vadas, F Garçon, E Banham-Hall, V Plagnol, TR Leahy, ...
Science 342 (6160), 866-871, 2013
6432013
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99
C Antoine, S Müller, A Cant, M Cavazzana-Calvo, P Veys, J Vossen, ...
The Lancet 361 (9357), 553-560, 2003
6412003
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: a large patient cohort study
TI Coulter, A Chandra, CM Bacon, J Babar, J Curtis, N Screaton, ...
Journal of Allergy and Clinical Immunology 139 (2), 597-606. e4, 2017
5532017
C1 inhibitor deficiency: consensus document
MM Gompels, RJ Lock, M Abinun, CA Bethune, G Davies, C Grattan, ...
Clinical & Experimental Immunology 139 (3), 379-394, 2005
5412005
The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity
MG Seidel, G Kindle, B Gathmann, I Quinti, M Buckland, J van Montfrans, ...
The Journal of Allergy and Clinical Immunology: In Practice 7 (6), 1763-1770, 2019
4792019
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
C Sobacchi, A Frattini, MM Guerrini, M Abinun, A Pangrazio, L Susani, ...
Nature genetics 39 (8), 960-962, 2007
4582007
V(D)J recombination defects in lymphocytes due toRAG mutations: severe immunodeficiency with a spectrum of clinical presentations
A Villa, C Sobacchi, LD Notarangelo, F Bozzi, M Abinun, TG Abrahamsen, ...
Blood, The Journal of the American Society of Hematology 97 (1), 81-88, 2001
3942001
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
MM Guerrini, C Sobacchi, B Cassani, M Abinun, SS Kilic, A Pangrazio, ...
The American journal of human genetics 83 (1), 64-76, 2008
3402008
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
C Woellner, EM Gertz, AA Schäffer, M Lagos, M Perro, EO Glocker, ...
Journal of Allergy and Clinical Immunology 125 (2), 424-432. e8, 2010
3392010
EULAR recommendations for vaccination in paediatric patients with rheumatic diseases
MW Heijstek, LMO De Bruin, M Bijl, R Borrow, F Van Der Klis, I Koné-Paut, ...
Annals of the rheumatic diseases 70 (10), 1704-1712, 2011
2972011
Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis
A Frattini, A Pangrazio, L Susani, C Sobacchi, M Mirolo, M Abinun, ...
Journal of bone and mineral research 18 (10), 1740-1747, 2003
2762003
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I
A Meloni, M Furcas, F Cetani, C Marcocci, A Falorni, R Perniola, M Pura, ...
The Journal of Clinical Endocrinology & Metabolism 93 (11), 4389-4397, 2008
2342008
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
Q Zhou, X Yu, E Demirkaya, N Deuitch, D Stone, WL Tsai, HS Kuehn, ...
Proceedings of the National Academy of Sciences 113 (36), 10127-10132, 2016
2332016
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