Chediak-Higashi Syndrome

Common Name(s)

Chediak-Higashi Syndrome

Chediak-Higashi syndrome is a genetic syndrome that affects the immune system, as well as other parts of the body. Signs and symptoms include a weakened immune system, repeated and persistent infections beginning in infancy and childhood, oculocutaneous albinism, blood clotting problems, and nervous system abnormalities (e.g., weakness, difficulty walking, and seizures). Complications from this syndrome can become life-threatening. It is caused by mutations in the LYST gene and is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chediak-Higashi Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chediak-Higashi Syndrome" returned 71 free, full-text research articles on human participants. First 3 results:

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.
 

Author(s): James D Weisfeld-Adams, Lakshmi Mehta, Janet C Rucker, Francine R Dembitzer, Arnold Szporn, Fred D Lublin, Wendy J Introne, Vikas Bhambhani, Michael C Chicka, Catherine Cho

Journal:

 

Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrome and immunodeficiency, and oculocutaneous albinism. A small number ...

Last Updated: 29 Mar 2013

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Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.
 

Author(s): Vikas Bhambhani, Wendy J Introne, Codrin Lungu, Andrew Cullinane, Camilo Toro

Journal: Mov. Disord.. 2013 Feb;28(2):127-9.

 

Last Updated: 25 Feb 2013

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Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome.
 

Author(s): James G White, Richard A Hess, William A Gahl, Wendy Introne

Journal: Platelets. 2013 ;24(1):71-4.

 

The present study has used electron microscopic techniques to rapidly detect the success or failure of bone marrow transplantation in three patients with the Chediak-Higashi Syndrome (CHS). The most rapid procedure was the whole mount technique to determine the presence or absence ...

Last Updated: 31 Dec 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chediak-Higashi Syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation: report of 10 cases.
 

Author(s): E Haddad, F Le Deist, S Blanche, M Benkerrou, P Rohrlich, E Vilmer, C Griscelli, A Fischer

Journal: Blood. 1995 Jun;85(11):3328-33.

 

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 ...

Last Updated: 23 Jun 1995

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Impaired microtubule function correctable by cyclic GMP and cholinergic agonists in the Chediak-Higashi syndrome.
 

Author(s): J M Oliver

Journal: Am. J. Pathol.. 1976 Nov;85(2):395-418.

 

The Chediak-Higashi (CH) syndrome of man and several animal species is characterized by the presence of abnormal giant granules in all granule-containing cells and by defects in chemotaxis and lysosomal degranulation during phagocytosis in polymorphonuclear leukocytes (PMNs). Since ...

Last Updated: 25 Jan 1977

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Chediak-Higashi Syndrome
 

Status: Recruiting

Condition Summary: Chediak Higashi Syndrome

 

Last Updated: 27 Nov 2014

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Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Thalassemia; Anemia; Granuloma; Wiskott-Aldrich Syndrome; Chediak Higashi Syndrome; Osteopetrosis; Neutropenia; Thrombocytopenia; Hurler Disease; Niemann-Pick Disease; Fucosidosis

 

Last Updated: 22 Jun 2011

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Immune Disorder HSCT Protocol
 

Status: Recruiting

Condition Summary: Immune Deficiency Disorders:; Severe Combined Immunodeficiency; Chronic Granulomatous Disease; X-linked Agammaglobulinemia; Wiskott-Aldrich Syndrome; Hyper-IgM; DiGeorge Syndrome; Chediak-Higashi Syndrome; Common Variable Immune Deficiency; Immune Dysregulatory Disorder:; Hemophagocytic Lymphohistiocytosis; IPEX; Autoimmune Lymphoproliferative Syndrome; X-linked Lymphoproliferative Syndrome

 

Last Updated: 9 Dec 2014

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