Clinical aspects and main diagnostic methods of Chediak-Higashi Syndrome

Chediak-Higashi Syndrome is a pathology caused by mutation in the LYST gene, characterized immunodeficiency, oculocutaneous albinism, and neurological dysfunction resulting from neutrophil changes. Homozygotes die first decade of life. The study about literature review different sources, with articles extracted SciELO, LILACS, MEDLINE, Google Scholar, PubMed databases, published between 2000 2018, main objective was to report pathophysiology, clinic, most known diagnostic methods. syndrome affects hematological systems, laboratory diagnosis verification giant granules leukocytes, mainly neutrophils peripheral blood bone marrow. definitive made cytochemical reaction (myeloperoxidase) detection molecular