Disseminated BCG Infection Mimicking Metastatic Nasopharyngeal Carcinoma in an Immunodeficient Child with a Novel Hypomorphic NEMO Mutation

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

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

Orchidée Filipe‐Santos, Jacinta Bustamante, Margje H. Haverkamp et al. · The Journal of Experimental Medicine · 2006 · 279 citations · Full text

Life Sciences, Genetics, Immunology +17

Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

Eric P. Hanson, Linda Monaco-Shawver, Laura A. Solt et al. · Journal of Allergy and Clinical Immunology · 2008 · 248 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

The presentation and natural history of immunodeficiency caused by nuclear factor κB essential modulator mutation

Jordan S. Orange, Ashish Jain, Zuhair K. Ballas et al. · Journal of Allergy and Clinical Immunology · 2004 · 180 citations

Life Sciences, Genetics, Immunology +12

Nuclear factor κB essential modulator–deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

Tim Niehues, Janine Reichenbach, Jennifer Neubert et al. · Journal of Allergy and Clinical Immunology · 2004 · 118 citations · Full text

Life Sciences, Genetics, Immunology +12