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Silvery Hair

  • Edna Venegas-Montoya
  • Nancy Jimenez Polvo
  • Sara Espinosa-Padilla
Chapter

Abstract

Chediak-Higashi syndrome is a rare autosomal recessive disorder with hematologic and neurologic manifestations as well as pigmentation defects and susceptibility to infections

The defect relies in the lysosome trafficking regulator protein, LYST, gene.

The most lethal manifestations are severe infections and hemophagocytic lymphohistiocytosis, referred to as an accelerated phase

Keywords

Oculocutaneous albinism Chediak-Higashi syndrome LYST 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Edna Venegas-Montoya
    • 1
  • Nancy Jimenez Polvo
    • 1
  • Sara Espinosa-Padilla
    • 1
  1. 1.Primary Immunodeficiency Diseases Research Unit, Instituto Nacional de PediatríaMexico CityMexico

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