Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive congenital immunodeficiency caused by mutations in CHS1, a gene encoding a putative lysosomal trafficking protein. In the majority of patients, this disorder is typically characterized by infantile-onset hemophagocytic lymphohistiocytosis (HLH), which is lethal unless allogeneic transplantation is performed. A small number of individ...

Although Chediak-Higashi syndrome (CHS) has been found in various mammalian species, it has not been described in rats. Since giant granules characterizing CHS are easily recognizable in mast cells of beige (CHS) mice, we screened mast-cell granules in the auricle of some mutant rats, of which coat color was diluted by mutation. Giant granules of mast cells were found in a mutant trait that occ...

1 Central Research Laboratory, Hamamatsu Photonics K.K., Hamamatsu, Japan 2 Department of Biofunctional Imaging, Medical Photonics Research Centre, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, Japan 3 Department of Molecular Imaging, Medical Photonics Research Centre, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, Japan 4 D...

AR(;E ANOMALOUS GRANULATIONS in circulating leukocytes and cells of other tissues are a characteristic feature of Chediak-Higashi ( C.FI.) svndrcme)4 In addition to unusual intracellular particles, atie1 ts with this disease manifest partial albinism, photophobia, neurologic deficits, hepatosplenornegalv, lvmphadenopathy, increased susceptibility to viral and bacterial infections, and early dea...

The Chediak-Higashi syndrome (CHS) is a rare hereditary fatal disease, if not treated. These changes are associated with various diseases and syndromes that mainly cause periodontal disease and thus the premature loss of teeth. This paper describes the monitoring of premature loss of primary teeth that began when the child was 5 years old. On presentation his teeth were mobile and there was a h...

A 3-year-old boy presented with recurrent infections. Physical examination revealed hepatosplenomegaly, bilateral cervical lymphadenopathy, silvery gray hair, and bilateral nystagmus. Giant granules in lymphocytes, monocytes, and granulocytes were seen on blood smear (Figure A). Bone marrow aspirate exhibited erythrophagocytosis and numerous giant granules of predominantly myeloid lineage (Figu...

By JAMES C. WHITE A RARE FAMILIAL DISORDER characterized cytologically by enormous particles in all varieties of leukocytes has been reported from various parts of the world and is known in this country as the Chediak-Higashi (C.H.) syndrome.1-4 The variable clinical manifestations of patients with this disease have included defective pigmentation, neuropathies, lymphadenopathy, hepatosplenomeg...

AR(;E ANOMALOUS GRANULATIONS in circulating leukocytes and cells of other tissues are a characteristic feature of Chediak-Higashi ( C.FI.) svndrcme)4 In addition to unusual intracellular particles, atie1 ts with this disease manifest partial albinism, photophobia, neurologic deficits, hepatosplenornegalv, lvmphadenopathy, increased susceptibility to viral and bacterial infections, and early dea...

Granulocyte function was evaluated using activity of S. aureus and group D strepperitoneal exudate granulocytes from a tococcus by CHS cells through 90 mm of instrain of beige mice with the Chediak-Hicubation. The bactericidal defect was most gashi syndrome (CHS). Defective granupronounced at early time periods and was locyte chemotaxi of CHS cells (43% related to impaired intracellular killing...