To the Editor, Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive inherited disorder characterized by variable degrees of oculocutaneous albinism, severe immune deficiency and unassociated lymphoproliferative syndrome, and intracytoplasmic giant granules in leukocytes, monocytes, platelets, melanocytes, and erythroid precursors [1,2,3,4,5]. CHS is caused by mutations in the lysosomal...

Chediak-Higashi syndrome is a rare autosomal recessive disorder due to a qualitative defect in leucocyte function characterized clinically by partial oculocutaneous albinism, recurrent bacterial infections, photophobia etc. The diagnostic feature is the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors. Here we report this syndrome in two siblings who pres...

Chemotaxis of mononuclear leukocytes from humans, mink, and cattle was evaluated in vitro using a morphologic Boyden chamber technique and a new 51-Cr-labeled mononuclear radioassay with a double micropore filter system. Significantly decreased mononuclear leukocyte chemotactic response were noted when human, mink, or cattle Chediak-Higashi cells were tested using autologous serum or endotoxin-...

1. Markovic O, Markovic N: Chediak-Higashi similar granules in acute promyelocytic leukemia. Proceedings of The 9th Congress of Macedonian Physicians 2:1191, 1974 2. Markovic N, Henderson E: Subcellular morphology and prognosis of acute leukemia. Proceedings of The 4th Congress of Yugoslavian Internists 1:375, 1973 3. Akashi K, Shibuya T, Harada M, Oogami A, Teshima T, Takamatsu Y, Kikuchi M, N...

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 20...

Chediak-Higashi syndrome is a rare condition characterized by susceptibility to bacterial infections, defective natural killer activity, and episodes of macrophage activation known as accelerated phases. Chemotherapy can induce transient remission of the accelerated phase, but relapses become less and less sensitive to treatment and ultimately lead to death. Allogenic bone marrow transplantatio...

Cultured fibroblasts from a patient with the Chediak-Higashi syndrome, the mother of the patient, and a normal control were studied by light and electron microscopy. The distribution pattern of PAS-positive and acid phosphatase-containing granules in the cytoplasm differed significantly in the fibroblasts from the patient when compared with those from the mother and control. The granules in the...

Among mice of strain SB/Le, homozygous for the mutant genes beige (bg), satin (sa), and white-bellied agouti (A(w)), 70% developed progressive pneumonitis by 6 months of age. Among backcross offspring from an outcross to C57BL/6J-A(w-J), 49% of homozygous beige and 11% of nonbeige genotypes developed pneumonitis by 6 months of age. The evidence indicates that a specific action of the beige gene...