نتایج جستجو برای: chediak

تعداد نتایج: 572  

Journal: :Blood 1966
J G White

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...

Journal: :Human molecular genetics 1997
M D Barbosa F J Barrat V T Tchernev Q A Nguyen V S Mishra S D Colman E Pastural R Dufourcq-Lagelouse A Fischer R F Holcombe M R Wallace S J Brandt G de Saint Basile S F Kingsmore

Chediak-Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome. Recent reports have described the identification of homologous genes that are mutated in human CHS and bg mice. Here we report the sequences of two major mRNA isoforms of the CHS gene in ...

Journal: :Blood 2011
Birthe Jessen Andrea Maul-Pavicic Heike Ufheil Thomas Vraetz Anselm Enders Kai Lehmberg Alfred Längler Ute Gross-Wieltsch Ali Bay Zuhre Kaya Yenan T Bryceson Ewa Koscielniak Sherif Badawy Graham Davies Markus Hufnagel Annette Schmitt-Graeff Peter Aichele Udo Zur Stadt Klaus Schwarz Stephan Ehl

Perforin-mediated cytotoxicity is important for controlling viral infections, but also for limiting immune reactions. Failure of this cytotoxic pathway leads to hemophagocytic lymphohistiocytosis (HLH), a life-threatening disorder of uncontrolled T-cell and macrophage activation. We studied susceptibility to HLH in 2 mouse strains (souris and beige(J)) and a cohort of patients with partial defe...

Journal: :The Journal of Experimental Medicine 1987
K H Takeuchi M P McGarry R T Swank

Elicited peritoneal neutrophils of beige (Chediak-Higashi) mice essentially lack activities of the neutral serine proteinases elastase and cathepsin G, which may explain the increased susceptibility to infection of beige mice and Chediak-Higashi patients. We have examined neutrophils of beige mice at earlier points in their development to determine if the proteinase genes are never expressed or...

Journal: :Traffic 2003
Arturo De Lozanne

The BEACH family of proteins is a novel group of proteins with diverse roles in eukaryotic cells. The identifying feature of these proteins is the BEACH domain named after the founding members of this family, the mouse beige and the human Chediak-Higashi syndrome proteins. Although all BEACH proteins share a similar structural organization, they appear to have very distinct cellular roles, rang...

Journal: :The Journal of clinical investigation 1977
D G Wright C H Kirkpatrick J I Gallin

The anti-helminthic drug levamisole hydrochloride has been reported to stimulate immune responses in humans and experimental animals. We have investigated levamisole effects on human leukocyte locomotion in vitro in studies of neutrophils and mononuclear cells from normal adults, from patients with Chediak-Higashi disease and from patients with the syndrome of hyperimmunoglobulin E, recurrent p...

2015
İrfan Yavaşoğlu

To the Editor, The letter entitled “A Rare Cause of Recurrent Oral Lesions: Chediak-Higashi Syndrome”, written by Karabel et al. and published in a recent issue of your journal, was quite interesting [1]. Here we would like to emphasize some relevant points. A number of systemic diseases, including hematologic disorders, do have manifestations in the orofacial region. Although non-pathognomonic...

2005
JAMES C. WHITE

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...

Journal: :Blood 1976
J L Costa A S Fauci S M Wolff

Platelets from two probands homozygous for the Chediak-Higashi syndrome have approximately 10% of the normal number of serotonin-containing dense bodies as visualized electron microscopically in air-dried whole mounts. Since transport of serotonin across the platelet plasma membrane proceeds at a normal rate, and the few dense bodies present appear to store normal amounts of serotonin, the abse...

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