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Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID), X-linked

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References

  • Carrol ED, Gennery AR, Flood TJ, et al. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch Dis Child. 2003;88(4):340–1.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chandrakasan S, Marsh RA, Uzel G, et al. Outcome of patients with NEMO deficiency following allogeneic hematopoietic cell transplant. J Allergy Clin Immunol. 2017;139(3):1040–3.

    Article  CAS  PubMed  Google Scholar 

  • Courtois G, Israël A. IKK regulation and human genetics. Curr Top Microbiol Immunol. 2011;349:73–95.

    PubMed  CAS  Google Scholar 

  • Döffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001;27(3):277–85.

    Article  PubMed  Google Scholar 

  • Dupuis-Girod S, Corradini N, Hadj-Rabia S, et al. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics. 2002;109(6):e97.

    Article  PubMed  Google Scholar 

  • Fusco F, Pescatore A, Conte MI, et al. EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-kB pathway can cause immunodeficiency and/or inflammation. Int Rev Immunol. 2015;34(6):445–59.

    Article  CAS  PubMed  Google Scholar 

  • Hubeau M, Ngadjeua F, Puel A, et al. New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Blood. 2011;118(4):926–35.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Israël A. The IKK complex, a central regulator of NF-kappaB activation. Cold Spring Harb Perspect Biol. 2010;2(3):a000158.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Jain A, Ma CA, Lopez-Granados E, et al. Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation. J Clin Invest. 2004;114(11):1593–602.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Karaca NE, Aksu G, Ulusoy E, et al. Disseminated BCG infectious disease and hyperferritinemia in a patient with a novel NEMO mutation. J Investig Allergol Clin Immunol. 2016;26(4):268–71.

    Article  CAS  Google Scholar 

  • Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int. 2012;61(2):207–17.

    Article  CAS  PubMed  Google Scholar 

  • Ku CL, Yang K, Bustamante J, et al. Inherited disorders of human toll-like receptor signaling: immunological implications. Immunol Rev. 2005;203:10–20.

    Article  CAS  PubMed  Google Scholar 

  • Maubach G, Naumann M. NEMO links nuclear factor-kB to human diseases. Trends Mol Med. 2017;23(12):1138–55.

    Article  CAS  PubMed  Google Scholar 

  • Miot C, Imai K, Imai C, et al. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Blood. 2017;130(12):1456–67.

    Article  CAS  PubMed  Google Scholar 

  • Mizukami T, Obara M, Nishikomori R, et al. Successful treatment with infliximab for inflammatory colitis in a patient with X-lined anhidrotic ectodermal dysplasia with immunodeficiency. J Clin Immunol. 2012;32(1):39–49.

    Article  PubMed  Google Scholar 

  • Nishikomori R, Akutagawa H, Maruyama K, et al. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood. 2004;103(12):4565–72.

    Article  CAS  PubMed  Google Scholar 

  • Orange JS, Brodeur SR, Jain A, et al. Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. J Clin Invest. 2002;109(11):1501–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Perez EE, Orange JS, Bonilla F, et al. Update on the use of immunoglobulin in human disease: a review of evidence. J Allergy Clin Immunol. 2017;139(3S):S1–S46.

    Article  CAS  PubMed  Google Scholar 

  • Picard C, Casanova JL, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkBalpa deficiency. Clin Microbiol Rev. 2011;24(3):490–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Temmerman ST, Ma CA, Borges L, et al. Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination. Blood. 2016;108(7):2324–31.

    Article  CAS  Google Scholar 

  • Vinolo E, Sebban H, Chaffotte A, et al. A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide and tumor necrosis factor-mediated NF-kappa B activation. J Biol Chem. 2006;281(10):6334–48.

    Article  CAS  PubMed  Google Scholar 

  • Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. 2000;67(6):1555–62.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. BC Children’s Hospital, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada

    Jacob Rozmus

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  1. Jacob Rozmus
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Correspondence to Jacob Rozmus .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, Victoria, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Noel R. Rose

Section Editor information

  1. BC Children’s Hospital, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada

    Stuart E. Turvey

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Rozmus, J. (2018). Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID), X-linked. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_44-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_44-1

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

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