A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency

(2015) Tomoki Kawai et al.   ALLERGOLOGY INTERNATIONAL

C-type lectin receptor-induced NF-κB activation in innate immune and inflammatory responses

(2012) Lara M Kingeter et al.   Cellular & Molecular Immunology

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or I B  Deficiency

(2011) C. Picard et al.   CLINICAL MICROBIOLOGY REVIEWS

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome

(2011) Hidenori Ohnishi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

Severe Candida spp. infections: new insights into natural immunity

(2010) Jos W.M. van der Meer et al.   INTERNATIONAL JOURNAL OF ANTIMICROBIAL AGENTS

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

(2010) Lena F. Schimke et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome

(2009) Laurence E. Cheng et al.   CLINICAL IMMUNOLOGY

A HomozygousCARD9Mutation in a Family with Susceptibility to Fungal Infections

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Autoimmune manifestations in primary immune deficiencies

(2008) Guillaume Bussone et al.   AUTOIMMUNITY REVIEWS

Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency

(2008) J D Fish et al.   BONE MARROW TRANSPLANTATION

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

(2008) Eduardo Lopez-Granados et al.   HUMAN MUTATION

Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-κB essential modulator deficiency

(2008) Sung-Yun Pai et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

(2008) Ellen D. Renner et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deficiency of Th17 cells in hyper IgE syndrome due to mutations inSTAT3

(2008) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells

(2008) Ludovic de Beaucoudrey et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

(2008) Joshua D. Milner et al.   NATURE