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Mycobacterial Infection, Ectodermal Dysplasia and Thrombocytopenic Purpura

  • Noé Ramírez-Alejo
  • Marco Yamazaki-Nakashimada
  • Leopoldo Santos-ArgumedoEmail author
Chapter

Abstract

Most patients with ectodermal dysplasia-immunodeficiency (ED-ID) or incontinentia pigmenti (IP) harbor hemizygous/hypomorphic mutations in the IKBKG gene which encodes the protein NEMO

These patients display a broad spectrum of clinical features including various infections, epithelial tissue abnormalities and immune dysregulation

Keywords

NEMO Ectodermal dysplasia Incontinentia pigmenti IKBKG 

References

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Noé Ramírez-Alejo
    • 1
  • Marco Yamazaki-Nakashimada
    • 2
  • Leopoldo Santos-Argumedo
    • 3
    Email author
  1. 1.St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller UniversityNew YorkUSA
  2. 2.Immunology DepartmentNational Institute of PediatricsMexico CityMexico
  3. 3.Department of Molecular BiomedicineCenter for Research and Advanced Studies (CINVESTAV), National Polytechnic Institute (IPN)Mexico CityMexico

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