Mario Abinun

Overview

Best Publications

• X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

  Rainer Döffinger;Asma Smahi;Christine Bessia;Frédéric Geissmann

  936
  Citations

• Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

  Qing Zhou;Dan Yang;Amanda K Ombrello;Andrey V Zavialov

  920
  Citations

• Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.

  Annalisa Frattini;Paul J. Orchard;Cristina Sobacchi;Silvia Giliani

  827
  Citations

• Human Tyrosine Kinase 2 Deficiency Reveals Its Requisite Roles in Multiple Cytokine Signals Involved in Innate and Acquired Immunity

  Yoshiyuki Minegishi;Masako Saito;Tomohiro Morio;Ken Watanabe

  804
  Citations

• Clinical spectrum of X-linked hyper-IgM syndrome

  Jacov Levy;Teresa Espanol-Boren;Carolin Thomas;Alain Fischer

  763
  Citations

• Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

  Ivan Angulo;Oscar Vadas;Fabien Garçon;Edward Banham-Hall

  680
  Citations

• Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

  Anne Puel;Anne Puel;Rainer Döffinger;Angels Natividad;Angels Natividad;Maya Chrabieh;Maya Chrabieh

  680
  Citations

• Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99

  Corinne Antoine;Susanna Müller;Andrew Cant;Marina Cavazzana-Calvo

  637
  Citations

• The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

  Markus G. Seidel;Gerhard Kindle;Benjamin Gathmann;Isabella Quinti

  588
  Citations

• C1 inhibitor deficiency: consensus document

  M. M. Gompels;R. J. Lock;M. Abinun;C. A. Bethune

  557
  Citations

• Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

  Tanya I Coulter;Anita Chandra;Chris M Bacon;Judith Babar

  468
  Citations

• Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

  Cristina Sobacchi;Annalisa Frattini;Matteo M Guerrini;Mario Abinun

  447
  Citations

• V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

  Anna Villa;Cristina Sobacchi;Luigi D. Notarangelo;Fabio Bozzi

  406
  Citations

• Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

  Cristina Woellner;E. Michael Gertz;Alejandro A. Schäffer;Macarena Lagos

  356
  Citations

• Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

  Matteo M. Guerrini;Cristina Sobacchi;Barbara Cassani;Mario Abinun

  335
  Citations

• EULAR recommendations for vaccination in paediatric patients with rheumatic diseases

  M. W. Heijstek;L. M. Ott de Bruin;M. Bijl;R. Borrow

  282
  Citations

• Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

  Annalisa Frattini;Alessandra Pangrazio;Lucia Susani;Cristina Sobacchi

  275
  Citations

• Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

  Qing Zhou;Xiaomin Yu;Erkan Demirkaya;Natalie Deuitch

  265
  Citations

• Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.

  Lisa R. Forbes;Tiphanie P. Vogel;Megan A. Cooper;Johana Castro-Wagner

  254
  Citations

• Autologous haematopoietic stem cell transplantation and other cellular therapy in multiple sclerosis and immune-mediated neurological diseases: updated guidelines and recommendations from the EBMT Autoimmune Diseases Working Party (ADWP) and the Joint Accreditation Committee of EBMT and ISCT (JACIE).

  Basil Sharrack;Riccardo Saccardi;Tobias Alexander;Manuela Badoglio

  249
  Citations

• Autoimmunity in human primary immunodeficiency diseases

  Peter D. Arkwright;Mario Abinun;Andrew J. Cant

  225
  Citations