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Chediak-Higashi Syndrome

A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
Also Known As:
Chediak Higashi Syndrome; Syndrome, Chediak-Higashi
Networked: 178 relevant articles (4 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Chronic Granulomatous Disease
2. Lung Injury
3. Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
4. Infection
5. Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)

Experts

1. De Lozanne, Arturo: 4 articles (01/2003 - 01/2002)
2. Tanabe, Fuminori: 3 articles (07/2014 - 07/2007)
3. Kasai, Hirotake: 3 articles (07/2014 - 07/2007)
4. White, James G: 3 articles (01/2013 - 03/2002)
5. Moin, Mostafa: 3 articles (08/2006 - 04/2005)
6. Pourpak, Zahra: 3 articles (08/2006 - 04/2005)
7. Gharagozlou, Mohammad: 3 articles (08/2006 - 04/2005)
8. Movahedi, Masoud: 3 articles (08/2006 - 04/2005)
9. Rezaei, Nima: 3 articles (08/2006 - 04/2005)
10. Aghamohammadi, Asghar: 3 articles (08/2006 - 04/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chediak-Higashi Syndrome:
1. Ascorbic Acid (Vitamin C)FDA LinkGeneric
2. Peroxidase (Myeloperoxidase)IBA
3. ColchicineFDA LinkGeneric
4. Serotonin (5 Hydroxytryptamine)IBA
5. Proteins (Proteins, Gene)IBA
6. Sepharose (Agarose)IBA
7. Membrane Proteins (Integral Membrane Proteins)IBA
8. EnzymesIBA
9. AgarIBA
10. polyacrylamideIBA
10/01/1985 - "Protein and glycoprotein abnormalities in platelets from human Chediak-Higashi syndrome: polyacrylamide gel electrophoretic study of platelets from five patients."
10/01/1985 - "Polyacrylamide electrophoretic analysis of proteins and Tritium-labelled glycoproteins of the platelets from five patients with Chediak-Higashi Syndrome shows the existence of marked quantitative differences when compared to normal platelets. "
12/01/1994 - "normalization) of tyrosinase in OCA cells but reduced activity in controls; 4) The spectrophotometric assay for 3,4-dihydroxyphenylalanine oxidase activity correlated very well with the tyrosine hydroxylase activity determined by the in vitro assay; 5) sodium dodecyl sulfate-polyacrylamide gel electrophoresis of melanocyte lysates either stained with 3,4-dihydroxyphenylalanine or immunoblotted with anti-tyrosinase detected abnormal tyrosinase bands in the Chediak-Higashi Syndrome and one line of tyrosinase positive OCA melanocytes, and both lines had release of tyrosinase into the growth media. "
12/01/1994 - "Tyrosine hydroxylase activity determined with cell lysates (in vitro), entire fixed cells (postfixation), or intact living cells (in situ), and 3,4-dihydroxyphenylalanine oxidase assayed spectrophotometrically or by 3,4-dihydroxyphenylalanine staining on sodium dodecyl sulfate-polyacrylamide gel electrophoresis, demonstrated the following results: 1) The in situ assay displayed reduced tyrosine hydroxylase activity in all three tyrosinase-positive oculocutaneous albino (OCA) lines except for Chediak-Higashi Syndrome melanocytes, which displayed normal activity; 2) The in vitro assay had comparable activity of tyrosinase-positive OCA melanocytes as controls, except for one tyrosinase-positive OCA cell line, which demonstrated increased activity; 3) The postfixation assay, compared with the in situ assay, had elevated activity (ie. "

Therapies and Procedures

1. Transplants (Transplant)
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Stem Cell Transplantation
03/01/2015 - "Successful stem cell transplantation in Chediak-Higashi syndrome."
05/01/2014 - "Chediak-Higashi syndrome (CHS) is a rare, autosomal, recessive lysosomal disorder with hematological and immunologic abnormalities; however, stem-cell transplantation from a matched or related donor may be curative. "
01/01/2009 - "Stem cell transplantation was performed for various diseases including acute myelogenous leukemia, acute lymphoblastic leukemia, chronic myelogenous leukemia, chronic lymphoblastic leukemia, thalassemia major, sickle cell thalassemia, sickle cell disease, multiple myeloma, myelodysplasia, mucopolysaccharidosis, paroxysmal nocturnal hemoglobinuria, non-Hodgkin's lymphoma, Hodgkin's disease, severe aplastic anemia, plasma cell leukemia, Niemann-Pick disease, Fanconi anemia, severe combine immunodeficiency, congenital neutropenia, leukocyte adhesion deficiencies, Chediak-Higashi syndrome, osteopetrosis, histiocytosis X, Hurler syndrome, amyloidosis, systemic sclerosis, breast cancer, Ewing's sarcoma, testicular cancer, germ cell tumors, neuroblastoma, medulloblastoma, renal cell carcinoma, nasopharyngeal carcinoma, ovarian cancer, Wilms' tumor, rhabdomyosarcoma, pancreatoblastoma, and multiple sclerosis. "
02/01/2013 - "Stem cell transplantation was performed for treatment of various diseases such as acute myelogenous leukemia, acute lymphoblastic leukemia, chronic myelogenous leukemia, chronic lymphoblastic leukemia, beta-thalassemia major, sickle- cell thalassemia, sickle- cell disease, multiple myeloma, myelodysplasia, mucopolysaccharidosis, paroxysmal nocturnal hemoglobinuria, non-Hodgkin's lymphoma, Hodgkin's disease, severe aplastic anemia, plasma cell leukemia, Niemann-Pick disease, Fanconi anemia, severe combined immunodeficiency, congenital neutropenia, leukocyte adhesion deficiencies, Chediak-Higashi syndrome, osteopetrosis, histiocytosis X, Hurler syndrome, amyloidosis, systemic sclerosis, breast cancer, Ewing's sarcoma, testicular cancer, germ cell tumors, neuroblastoma, medulloblastoma, renal cell carcinoma, nasopharyngeal carcinoma, ovarian cancer, Wilms' tumor, rhabdomyosarcoma, pancreatoblastoma, and multiple sclerosis. "
4. Splenectomy
5. Transplantation (Transplant Recipients)