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:

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 02/01/1979 - "Efficacy of ascorbic acid in Chediak-Higashi syndrome (CHS): studies in humans and mice." 05/01/1982 - "After incubation with ascorbic acid, the clustered granules in the fibroblasts of the Chediak-Higashi syndrome showed a tendency to spread throughout the cytoplasm. " 10/01/1979 - "Impaired microtubule assembly and polymorphonuclear leucocyte function in the Chediak-Higashi syndrome correctable by ascorbic acid." 05/01/1981 - "Development of the accelerated phase during ascorbic acid therapy in Chediak-Higashi syndrome and efficacy of colchicine on its management." 08/01/1992 - "A 10-year-old boy with Chediak-Higashi syndrome in accelerated phase failed to respond to treatment with ascorbic acid, vincristine, and prednisone. "
2.	Peroxidase (Myeloperoxidase)IBA 08/01/1987 - "The present study has used ultrastructural cytochemistry to selectively stain myeloperoxidase containing granules of normal and Chediak-Higashi syndrome neutrophils and serial thin sections to determine if all peroxidase-positive organelles in Chediak-Higashi syndrome cells are protrusions of the huge inclusions characteristic of the disorder. " 08/01/1987 - "Peroxidase-positive organelles in polymorphonuclear leukocytes from three patients with Chediak-Higashi syndrome varied in size from vesicles and normal-sized lysosomes to the huge bodies filling the cytoplasm. " 12/01/1974 - "Fate of exogenous peroxidase in renal lysosomes of mice with Chediak-Higashi syndrome." 12/01/1987 - "These include examination of blood films, which may prove helpful in the diagnosis of Chediak-Higashi syndrome and specific granule deficiency; the Rebuck skin window test, which estimates chemotactic defects; the NBT test, which screens for chronic granulomatous disease patients; and peroxidase staining of the blood film in order to estimate the content of myeloperoxidase, when myeloperoxidase deficiency is suspected. " 07/01/2000 - "Chediak-Higashi syndrome (CHS) is a rare autosomal-recessive disorder characterized by immune deficiency, partial oculocutaneous albinism, and large eosinophilic, peroxidase-positive inclusion bodies in granule-containing cells. "
3.	ColchicineFDA LinkGeneric 05/01/1981 - "Development of the accelerated phase during ascorbic acid therapy in Chediak-Higashi syndrome and efficacy of colchicine on its management."
4.	Serotonin (5 Hydroxytryptamine)IBA 06/16/1986 - "The animal model of Chediak-Higashi syndrome used in the present study provides a unique opportunity to compare the kinetics of serotonin (5-hydroxytryptamine, 5-HT) uptake in platelets and brain synaptosomes in conditions of selective reduction of 5HT concentration in the platelets. " 10/01/1976 - "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. " 08/01/1976 - "Decreased nucleotide and serotonin storage associated with defective function in Chediak-Higashi syndrome cattle and human platelets." 02/01/1974 - "A platelet serotonin anomaly in the Chediak-Higashi syndrome." 05/15/1978 - "Fluorescence microscopical study of 5-hydroxytryptamine storage organelles in mepacrine-incubated blood platelets of beige mice (Chediak-Higashi syndrome)."
5.	Proteins (Proteins, Gene)IBA 04/01/1997 - "In addition, preliminary studies using antisense expression indicate that down-regulation of either Rab7 or Rab9 proteins induces severe cell vacuolation that resembles the phenotype seen in fibroblasts from patients with Chediak-Higashi syndrome." 10/24/2012 - "We propose that the detailed compendium of phenotypes exhibited by the Drosophila rg null mutant provided here will serve as a test bed for dissecting the different functional domains of BEACH (for beige and human Chediak-Higashi syndrome) proteins, such as Rugose, mouse Nbea, or Nbea orthologs in other species, such as human." 11/30/2004 - "The beige and Chediak-Higashi syndrome (BEACH) domain defines a large family of eukaryotic proteins that have diverse cellular functions in vesicle trafficking, membrane dynamics, and receptor signaling. " 01/01/2003 - "LvsB is most similar in sequence to the mammalian beige/Chediak-Higashi syndrome proteins and shares with them a common function in lysosomal trafficking. " 01/01/2003 - "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. "
6.	Sepharose (Agarose)IBA 06/01/1982 - "This study investigated the defective natural killer (NK) cell activity in two patients with the Chediak-Higashi syndrome (CHS) using both a standard 51-chromium release microcytoxicity and a single cell-in-agarose assay against K562 and Molt-4 target cells. " 06/01/1979 - "Chemotaxis of granulocytes in Chediak-Higashi syndrome with agarose plate and filter chamber methods."
7.	Membrane Proteins (Integral Membrane Proteins)IBA 12/01/1992 - "Further study will be necessary to delineate whether the function of these membrane proteins is altered in Chediak-Higashi syndrome." 10/22/1990 - "Identification of dense granule specific membrane proteins in bovine platelets that are absent in the Chediak-Higashi syndrome."
8.	EnzymesIBA 09/01/1986 - "Chediak-Higashi-syndrome cultured skin fibroblasts were used to study the possible involvement of lysosomal enzymes and lysosomal dysfunction in this disorder. " 02/15/2002 - "In lvsB mutant cells, the regulated secretion of lysosomal enzymes was enhanced, a phenotype reminiscent of the Chediak-Higashi syndrome. " 09/01/1986 - "Characterization of lysosomes and lysosomal enzymes from Chediak-Higashi-syndrome cultured fibroblasts."
9.	AgarIBA 01/01/1986 - "Studies on proliferation and differentiation of granulocyte-monocyte progenitor cells in Chediak-Higashi syndrome (CHS) were done on a 1-month-old patient, using the soft-agar bone marrow culture technique. " 01/01/1975 - "Growth characteristics of bone marrow cells from beige mutant, the mouse homologue of the Chediak-Higashi syndrome of man, propagated in semisolid agar cultures." 01/01/1975 - "Suspensions of bone marrow cells from the beige (bg/bg) mouse, a homologue of the Chediak-Higashi syndrome (C-HS) of man, and normal mouse bone marrow cells, when stimulated by colony-stimu.ating factor (CSF) from different sources, proliferate in semisolid agar cultures and produce colonies composed of granulocytic and/or mononuclear cells. "
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) 11/01/1982 - "When spleen cells (1.5 x 10(8)) from beige C57BL/6 (bgJ/bgJ, Chediak-Higashi syndrome) mice were injected into nonirradiated (C57BL/6 x CBA)F1 hybrid mice, the hematopoietic stem cells of the hybrid host were eradicated by graft-versus-host (GVH) reaction, and peripheral neutrophils of the host changed from normal type to beige type with giant sudanophilic granules in 20 days after the cell injection. " 07/01/2005 - "We also reviewed the very long-term outcome of the other 11 patients with Chediak-Higashi syndrome who had received bone marrow transplants at our center since 1981. " 10/01/2003 - "An HLA-identical sibling bone marrow transplant was done for a patient with Chediak-Higashi syndrome. " 10/01/2003 - "Fludarabine and once-daily intravenous busulfan is well tolerated and is adequate for engraftment of sibling transplant in Chediak-Higashi syndrome."
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2013 - "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). " 11/01/2015 - "This report describes a complex paediatric patient who underwent bone marrow transplantation to control the accelerated phase of the Chediak-Higashi syndrome. " 01/01/2013 - "Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome." 07/01/2005 - "Three patients with Chediak-Higashi syndrome underwent allogeneic bone marrow transplantation between the ages of 2 years 9 months and 7 years. " 01/01/2003 - "Split chimerism after allogeneic bone marrow transplantation in Chediak-Higashi syndrome."
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 08/01/1992 - "We suggest that splenectomy be considered in treatment of the accelerated phase of Chediak-Higashi syndrome unresponsive to other forms of therapy." 08/01/1992 - "Chediak-Higashi syndrome: clinical, hematologic, and immunologic improvement after splenectomy." 01/01/1988 - "Postulating a link between these findings and the known immunological defect of beige-J mice (Chediak-Higashi syndrome), we examined the effect of splenectomy on beige-J mice and the adoptive transfer of their mononuclear spleen cells to normal littermate controls (2 x 10(7) cells via tail vein). " 07/01/1985 - "[Role of splenectomy in Chediak-Higashi syndrome in its accelerated phase]." 01/01/1970 - "[Case of Chediak-Higashi syndrome treated with splenectomy]."
5.	Transplantation (Transplant Recipients) 06/01/2012 - "Unrelated cord blood transplantation can restore hematologic and immunologic functions in patients with Chediak-Higashi syndrome." 09/01/2015 - "One had Chediak-Higashi syndrome, one had ALL, one had chronic renal disease on hemodialysis and one was a renal transplant recipient. " 07/01/1992 - "Unrelated donor marrow transplantation was undertaken in eight infants with severe combined immunodeficiency (SCID) and two children each with Wiskott-Aldrich syndrome (WAS) and Chediak-Higashi syndrome (CHS) who did not have histocompatible siblings. "