Mario Abinun

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Qing Zhou, Dan Yang, Amanda K. Ombrello et al. · New England Journal of Medicine · 2014 · 893 citations · Full text

Life Sciences, Genetics, Neurology +14

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

Rainer Döffinger, Asma Smahi, Christine Bessia et al. · Nature Genetics · 2001 · 819 citations

Life Sciences, Genetics, Molecular Genetics +13

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

Anne Puel, Rainer Döffinger, Angels Natividad et al. · The Journal of Experimental Medicine · 2010 · 721 citations · Full text

Life Sciences, Dermatology, Immunology +17

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

Yoshiyuki Minegishi, Masako Saitō, Tomohiro Morio et al. · Immunity · 2006 · 696 citations · Full text

Life Sciences, Immunology, Molecular Biology +17

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 et al. · Nature Genetics · 2000 · 676 citations

Life Sciences, Genetics, Molecular Genetics +6