EDA-ID and IP, Two Faces of the Same Coin: How the Same IKBKG/NEMO Mutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation
F Fusco, A Pescatore, MI Conte, P Mirabelli… - International reviews …, 2015 - Taylor & Francis
F Fusco, A Pescatore, MI Conte, P Mirabelli, M Paciolla, E Esposito, MB Lioi, MV Ursini
International reviews of immunology, 2015•Taylor & FrancisAnhidrotic Ectodermal Dysplasia with ImmunoDeficiency (EDA-ID, OMIM 300291) and
Incontinentia Pigmenti (IP, OMIM 308300) are two rare diseases, caused by mutations of the
IKBKG/NEMO gene. The protein NEMO/IKKγ is essential for the NF-κB activation pathway,
involved in a variety of physiological and cellular processes, such as immunity,
inflammation, cell proliferation, and survival. A wide spectrum of IKBKG/NEMO mutations
have been identified so far, and, on the basis of their effect on NF-κB activation, they are …
Incontinentia Pigmenti (IP, OMIM 308300) are two rare diseases, caused by mutations of the
IKBKG/NEMO gene. The protein NEMO/IKKγ is essential for the NF-κB activation pathway,
involved in a variety of physiological and cellular processes, such as immunity,
inflammation, cell proliferation, and survival. A wide spectrum of IKBKG/NEMO mutations
have been identified so far, and, on the basis of their effect on NF-κB activation, they are …
Anhidrotic Ectodermal Dysplasia with ImmunoDeficiency (EDA-ID, OMIM 300291) and Incontinentia Pigmenti (IP, OMIM 308300) are two rare diseases, caused by mutations of the IKBKG/NEMO gene. The protein NEMO/IKKγ is essential for the NF-κB activation pathway, involved in a variety of physiological and cellular processes, such as immunity, inflammation, cell proliferation, and survival.
A wide spectrum of IKBKG/NEMO mutations have been identified so far, and, on the basis of their effect on NF-κB activation, they are considered hypomorphic or amorphic (loss of function) mutations. IKBKG/NEMO hypomorphic mutations, reducing but not abolishing NF-κB activation, have been identified in EDA-ID and IP patients. Instead, the amorphic mutations, abolishing NF-κB activation by complete IKBKG/NEMO gene silencing, cause only IP.
Here, we present an overview of IKBKG/NEMO mutations in EDA-ID and IP patients and describe similarities and differences between the clinical/immunophenotypic and genetic aspects, highlighting any T and B lymphocyte defect, and paying particular attention to the cellular and molecular defects that underlie the pathogenesis of both diseases.
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