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 81 free, full-text research articles on human participants. First 3 results:

Chediak-Higashi Syndrome in Accelerated Phase Masquerading as Acute Leukemia.
 

Author(s): Mili Jain, Ashutosh Kumar, Uma Shankar Singh, Rashmi Kushwaha

Journal: Turk J Haematol. 2016 Dec;33(4):349-350.

 

Last Updated: 20 Apr 2016

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Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.
 

Author(s): Aleksandra Gil-Krzewska, Stephanie M Wood, Yousuke Murakami, Victoria Nguyen, Samuel C C Chiang, Andrew R Cullinane, Giovanna Peruzzi, William A Gahl, John E Coligan, Wendy J Introne, Yenan T Bryceson, Konrad Krzewski

Journal: J. Allergy Clin. Immunol.. 2016 Apr;137(4):1165-77.

 

Mutations in lysosomal trafficking regulator (LYST) cause Chediak-Higashi syndrome (CHS), a rare immunodeficiency with impaired cytotoxic lymphocyte function, mainly that of natural killer (NK) cells. Our understanding of NK cell function deficiency in patients with CHS and how LYST ...

Last Updated: 9 Apr 2016

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Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response.
 

Author(s): Le Wang, Kamila Rosamilia Kantovitz, Andrew Robert Cullinane, Francisco Humberto Nociti, Brian Lee Foster, Joseph Concepcion Roney, Anne Bich Tran, Wendy Jewell Introne, Martha Joan Somerman

Journal:

 

Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by immunodeficiency, oculocutaneous albinism, neurological dysfunction, and early death. Individuals with CHS present with increased susceptibility to infections of the skin, upper-respiratory tract, ...

Last Updated: 28 Apr 2015

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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 7 free, full-text review articles on human participants. First 3 results:

Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.
 

Author(s): I Maaloul, J Talmoudi, I Chabchoub, L Ayadi, T H Kamoun, T Boudawara, C H Kallel, M Hachicha

Journal: Hematol Oncol Stem Cell Ther. 2016 Jun;9(2):71-5.

 

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by ...

Last Updated: 23 May 2016

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Towards the targeted management of Chediak-Higashi syndrome.
 

Author(s): Maria L Lozano, Jose Rivera, Isabel Sánchez-Guiu, Vicente Vicente

Journal:

 

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 ...

Last Updated: 20 Aug 2014

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome.
 

Author(s): D M Ward, G M Griffiths, J C Stinchcombe, J Kaplan

Journal: Traffic. 2000 Nov;1(11):816-22.

 

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder of human, mouse (beige) and other mammalian species. The same genetic defect was found to result in the disease in all species identified, permitting a positional cloning approach using the mouse model beige to ...

Last Updated: 1 Mar 2001

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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: 20 Apr 2017

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BMT Abatacept for Non-Malignant Diseases
 

Status: Recruiting

Condition Summary: Hurler Syndrome; Fanconi Anemia; Glanzmann Thrombasthenia; Wiskott-Aldrich Syndrome; Chronic Granulomatous Disease; Severe Congenital Neutropenia; Leukocyte Adhesion Deficiency; Shwachman-Diamond Syndrome; Diamond-Blackfan Anemia; Dyskeratosis-congenita; Chediak-Higashi Syndrome; Severe Aplastic Anemia; Thalassemia Major; Hemophagocytic Lymphohistiocytosis; Sickle Cell Disease

 

Last Updated: 16 Aug 2016

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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 Disorders; Hemophagocytic Lymphohistiocytosis; IPEX; Autoimmune Lymphoproliferative Syndrome; X-linked Lymphoproliferative Syndrome

 

Last Updated: 1 Nov 2016

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