EDA-ID and IP, Two Faces of the Same Coin: How the Same IKBKG / NEMO Mutation Affecting the NF-B Pathway Can Cause Immunodeficiency and/or Inflammation

International Reviews of Immunology

Volumn 34, Issue 6, 2015, Pages 445-459

  Fusco, Francesca ^a   Pescatore, Alessandra ^a   Conte, Matilde Immacolata ^a   Mirabelli, Peppino ^b   Paciolla, Mariateresa ^a,c   Esposito, Elio ^a   Lioi, Maria Brigida ^c   Ursini, Matilde Valeria ^a,b  

^a INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^b IRCCS SDN   (Italy)

^c UNIVERSITY OF BASILICATA   (Italy)

Author keywords

IKBKG NEMO mutations; immunodeficiency; inflammation; mutation sequence analysis; NF B

Indexed keywords

I KAPPA B KINASE GAMMA; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; I KAPPA B KINASE; IKBKG PROTEIN, HUMAN;

B LYMPHOCYTE; CLINICAL FEATURE; GENE LOCUS; GENE MUTATION; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNE DEFICIENCY; IMMUNOPHENOTYPING; INCONTINENTIA PIGMENTI; INFLAMMATION; INHERITANCE; PATHOGENESIS; PHENOTYPE; PLASTICITY; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; T LYMPHOCYTE; ANIMAL; CHEMISTRY; ECTODERMAL DYSPLASIA; GENETIC ASSOCIATION STUDY; GENETIC DISEASES, X-LINKED; GENETICS; GENOTYPE; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; METABOLISM; MUTATION;

ANIMALS; ECTODERMAL DYSPLASIA; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENETIC LOCI; GENOTYPE; HUMANS; I-KAPPA B KINASE; IMMUNOLOGIC DEFICIENCY SYNDROMES; INCONTINENTIA PIGMENTI; INFLAMMATION; MUTATION; NF-KAPPA B; PHENOTYPE; SIGNAL TRANSDUCTION;

EID: 84947027239     PISSN: 08830185     EISSN: 15635244     Source Type: Journal    
DOI: 10.3109/08830185.2015.1055331     Document Type: Review

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