Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

(2012) T. Kawai et al.   BLOOD

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

Regulation and Function of NF-κB Transcription Factors in the Immune System

(2009) Sivakumar Vallabhapurapu et al.   Annual Review of Immunology

Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes

(2009) Perdita Permaul et al.   IMMUNOLOGIC RESEARCH

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

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

(2008) Eric P. Hanson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY