Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

(2017) Bertrand Boisson et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature

(2016) Afshin Shirkani et al.   IMMUNOLOGICAL INVESTIGATIONS

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

(2016) Delfien J A Bogaert et al.   JOURNAL OF MEDICAL GENETICS

EDA-ID and IP, Two Faces of the Same Coin: How the SameIKBKG/NEMOMutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation

(2015) Francesca Fusco et al.   INTERNATIONAL REVIEWS OF IMMUNOLOGY

Addressing diagnostic challenges in primary immunodeficiencies: Laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses

(2014) Glynis Frans et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations

(2012) T. Freiberger et al.   HUMAN IMMUNOLOGY

Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

(2011) Michael D. Keller et al.   Frontiers in Immunology

Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology

(2010) J. Gautheron et al.   HUMAN MOLECULAR GENETICS

A Novel Missense Mutation in the Nuclear Factor-κB Essential Modulator (NEMO) Gene Resulting in Impaired Activation of the NF-κB Pathway and a Unique Clinical Phenotype Presenting as MRSA Subdural Empyema

(2010) Gene A. Devora et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

(2010) Anita Becker-Heck et al.   NATURE GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Highly Efficient Multicistronic Lentiviral Vectors with Peptide 2A Sequences

(2009) Abdelilah Ibrahimi et al.   HUMAN GENE THERAPY

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Shared Principles in NF-κB Signaling

(2008) Matthew S. Hayden et al.   CELL

IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

(2008) Bryn H. Salt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Structure of a NEMO/IKK-Associating Domain Reveals Architecture of the Interaction Site

(2008) Mia Rushe et al.   STRUCTURE