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...

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...

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...

Multivesicular endosomes are present in virtually every eucaryotic cell, where they arise by intra-endosomal budding of the limiting endosomal membrane. Some genetic diseases such as Chediak-Higashi syndrome are characterized by enlarged membrane-filled endosomes. The same altered endosomal morphology can be observed in cells exposed to certain drugs, for example U18666A. The mechanisms involve...

Three patients with Chediak-Higashi syndrome underwent allogeneic bone marrow transplantation between the ages of 2 years 9 months and 7 years. The outcome was uneventful, with sustained mixed chimerism. No subsequent recurrent infections or hemophagocytic syndrome were observed. At the age of 22 to 24 years, these 3 patients developed a neurologic deficit combining difficulty walking, loss of ...

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

T HE CHEDIAK-HIGASHI SYNDROME (CR5) is characterized by large abnormal cytoplasmic organelles in cells including leukocytes which contain lysosome-like structures. This rare disease is inherited as an autosomal recessive disorder, and the clinical features include partial oculocutaneous albinism, frequent and severe pyogenic infections, and the development of a lymphoma-like ( accelerated ) pha...

T. Susaki,1 A. Sekiyama,1 K. Kobayashi,1 T. Mizokawa,1 A. Fujimori,1 M. Tsunekawa,2 T. Muro,2 T. Matsushita,2,* S. Suga,2 H. Ishii,3 T. Hanyu,3 A. Kimura,4 H. Namatame,5 M. Taniguchi,5 T. Miyahara,6 F. Iga,5 M. Kasaya,7 and H. Harima8 1Department of Physics, University of Tokyo, Bunkyo-ku, Tokyo 113, Japan 2Department of Material Physics, Osaka University, Toyonaka, Osaka 560, Japan 2Department...

Kazuhiro Kawamura1,*, Yuan Cheng1, Ying-Pu Sun2, Jun Zhai2, Cesar Diaz-Garcia3, Carlos Simon3,4, Antonio Pellicer3, and Aaron J. Hsueh4,* Department of Ob/Gyn, St. Mariana University, Kawasaki, Japan Reproductive Medical Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China Fundación Instituto Valenciano de Infertilidad (FIVI), ValenciaUniversity and InstitutoUniversit...

Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...