1,497 results match your criteria Chediak-Higashi Syndrome


Morphological and functional analysis of beige (Chèdiak-Higashi syndrome) mouse mast cells with giant granules.

Int Immunopharmacol 2019 Feb 6;69:202-212. Epub 2019 Feb 6.

Department of Pharmacology, Ehime University Graduate School of Medicine Shitsukawa, Toon, Ehime 791-0295, Japan.

Chèdiak-Higashi syndrome is a rare autosomal recessive disease that causes hypopigmentation, recurrent infections, mild coagulation defects and neurological problems. Beige mice carry a mutation in the lysosome trafficking regulator (LYST) gene and display some of the key characteristics of human Chèdiak-Higashi syndrome, in particular, a high susceptibility to infection due to aberrant natural killer (NK) cell and polymorphonuclear leucocyte function. Morphological analysis of beige mice reveals the presence of enlarged lysosomes in a variety of cell types, including leucocytes, hepatocytes, fibroblasts and renal tubule cells. Read More

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http://dx.doi.org/10.1016/j.intimp.2019.01.053DOI Listing
February 2019
1 Read

Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

Pediatr Dermatol 2018 Nov 18;35(6):780-783. Epub 2018 Oct 18.

Department of Dermatology, National Institute of Pediatrics, Mexico City, Mexico.

Background/objectives: Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. Read More

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http://dx.doi.org/10.1111/pde.13624DOI Listing
November 2018
5 Reads

Acute Transient Sixth Nerve Palsy in Chediak-Higashi Syndrome.

J Pediatr Ophthalmol Strabismus 2018 Aug 29;55:e22-e25. Epub 2018 Aug 29.

Neurologic disorders in Chediak-Higashi syndrome are usually late presentations and also may manifest long after bone marrow stem cell transplantation. To the authors' knowledge, transient neurological deficit has not been reported yet. They describe a 6-year-old boy with Chediak-Higashi syndrome in the accelerated phase who presented with transient sixth nerve palsy. Read More

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https://www.healio.com/doiresolver?doi=10.3928/01913913-2018
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http://dx.doi.org/10.3928/01913913-20180806-02DOI Listing
August 2018
14 Reads

Molecular assessment of visitor personal protective equipment contamination with the Aleutian mink disease virus and porcine circovirus-2 in mink and porcine farms.

PLoS One 2018 27;13(8):e0203144. Epub 2018 Aug 27.

Department of Animal Pathology (INVESAGA Group), Faculty of Veterinary Sciences, Universidade de Santiago de Compostela, Lugo, Spain.

Personal protective equipment (PPE) is an element of biosecurity intended to prevent the access or spread of diseases in farms. Nevertheless, to date no extensive reports exist about the effectiveness of different available PPE on farms. Thus, our aim was to estimate the degree of protection of PPE from viral contamination during farm visits. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203144PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110490PMC
February 2019
1 Read

[Rare diseases recognizable from blood smears].

Internist (Berl) 2018 Oct;59(10):1106-1113

Klinik für Hämatologie, Onkologie und Immunologie, Universitätsklinikum Gießen und Marburg, Standort Marburg, Philipps-Universität Marburg, Baldingerstr., 35043, Marburg, Deutschland.

The examination of peripheral blood smears is not only essential for the differential diagnostics of hematological diseases but can also provide important indications for general internal diseases, infections, hereditary diseases and poisoning. By the systematic analysis of a blood smear for alterations to thrombocytes, erythrocytes and leukocytes, a blood smear investigation can make a decisive contribution to the formulation of a diagnosis. In this way evidence of rare diseases can also be gained when taking the corresponding clinical findings into consideration. Read More

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http://dx.doi.org/10.1007/s00108-018-0467-5DOI Listing
October 2018
2 Reads

Lesser housefly (Fannia canicularis) as possible mechanical vector for Aleutian mink disease virus.

Vet Microbiol 2018 Jul 4;221:90-93. Epub 2018 Jun 4.

Department of Animal Pathology (INVESAGA Group), Faculty of Veterinary Sciences, Universidade de Santiago de Compostela, Lugo, Spain.

Flies are known vectors for a variety of infectious diseases in animals. In fur mink farming, one of the most severe diseases is Aleutian disease, which is caused by the Aleutian mink disease virus (AMDV). The presence of large fly populations is a frequent issue in mink farms; however, no studies assessing their role as AMDV carrier vectors have been conducted to-date. Read More

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http://dx.doi.org/10.1016/j.vetmic.2018.05.024DOI Listing
July 2018
2 Reads

NBEAL2 mutations and bleeding in patients with gray platelet syndrome.

Platelets 2018 Sep 5;29(6):632-635. Epub 2018 Jun 5.

a Cell Biology Program , Research Institute, Hospital for Sick Children , Toronto , ON , Canada.

Homozygosity/compound heterozygosity for loss of function mutations in neurobeachin-like 2 (NBEAL2) is causative for Gray platelet syndrome (GPS; MIM #139090), characterized by thrombocytopenia and large platelets lacking α-granules and cargo. Most GPS-associated NBEAL2 mutations generate nonsense codons; frameshifts causing premature translation termination and/or changes in mRNA splicing have also been observed. Data regarding NBEAL2 protein expression in GPS patients is limited. Read More

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http://dx.doi.org/10.1080/09537104.2018.1478405DOI Listing
September 2018
1 Read

A comparative molecular characterization of AMDV strains isolated from cases of clinical and subclinical infection.

Virus Genes 2018 Aug 29;54(4):561-569. Epub 2018 May 29.

Department of Epizootiology and Clinic of Infectious Diseases, Faculty of Veterinary Medicine, University of Life Sciences, Głęboka 30, 20-612, Lublin, Poland.

The Aleutian mink disease virus (AMDV) is one of the most serious threats to modern mink breeding. The disease can have various courses, from progressive to subclinical infections. The objective of the study was to provide a comparative molecular characterization of isolates of AMDV from farms with a clinical and subclinical course of the disease. Read More

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http://dx.doi.org/10.1007/s11262-018-1576-xDOI Listing
August 2018
9 Reads

[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Apr;35(2):188-192

Department of Neonatology, Xi'an Children's Hospital, Xi'an, Shaanxi 710002, China.

Objective: To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS).

Methods: Clinical data of two CHS patients from the pedigree was collected and analyzed. Targeted next generation sequencing and Sanger sequencing were conducted to detect potential mutation of the LYST gene. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.02.009DOI Listing
April 2018
2 Reads

Genetic diversity and phylogenetic analysis of Aleutian mink disease virus isolates in north-east China.

Arch Virol 2018 May 17;163(5):1241-1251. Epub 2018 Feb 17.

College of Chinese Medicine Material, Jilin Agricultural University, No. 2888, Xincheng Street, Changchun, 130118, People's Republic of China.

Aleutian mink disease is the most important disease in the mink-farming industry worldwide. So far, few large-scale molecular epidemiological studies of AMDV, based on the NS1 and VP2 genes, have been conducted in China. Here, eight new Chinese isolates of AMDV from three provinces in north-east China were analyzed to clarify the molecular epidemiology of AMDV. Read More

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http://dx.doi.org/10.1007/s00705-018-3754-5DOI Listing
May 2018
6 Reads

Chediak-Higashi Syndrome in Accelerated Phase.

Indian J Hematol Blood Transfus 2018 Jan 27;34(1):146-147. Epub 2017 Mar 27.

1Department of Pathology, PSG Institute of Medical Sciences and Research, Peelamedu, Coimbatore, 641004 India.

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http://dx.doi.org/10.1007/s12288-017-0805-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786603PMC
January 2018
2 Reads

Identification and characterization of a novel B-cell epitope on Aleutian Mink Disease virus capsid protein VP2 using a monoclonal antibody.

Virus Res 2018 03 24;248:74-79. Epub 2017 Dec 24.

Heilongjiang Provincial Key Laboratory of Laboratory Animal and Comparative Medicine, State Key Laboratory of Veterinary Biotechnology, Harbin Veterinary Research Institute, Chinese Academy of Agricultural Sciences, 678 Haping Road, Harbin, 150069, People's Republic of China. Electronic address:

Aleutian mink disease is caused by a highly contagious parvovirus (Aleutian mink disease virus, AMDV). This disease is one of the most commercially important infectious disease worldwide and causes considerable economic losses to mink farmers. The capsid protein VP2 is the major immunogenic antigenic protein of AMDV, and is involved in viral tropism, pathogenicity, and host selection. Read More

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http://dx.doi.org/10.1016/j.virusres.2017.12.008DOI Listing
March 2018
12 Reads

Periodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response.

JDR Clin Trans Res 2018 Jan 3;3(1):35-46. Epub 2017 Aug 3.

Department of Pediatric Dentistry, State University of Campinas, Piracicaba Dental School, Piracicaba, SP, Brazil.

Chédiak-Higashi syndrome (CHS), a rare autosomal recessive disorder caused by mutations in the lysosomal trafficking regulator gene (LYST), is associated with aggressive periodontitis. It is suggested that LYST mutations affect the toll-like receptor (TLR)-mediated immunoinflammatory response, leading to frequent infections. This study sought to determine the periodontal status of patients with classic (severe) and atypical (milder) forms of CHS and the immunoregulatory functions of gingival fibroblasts in CHS patients. Read More

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http://dx.doi.org/10.1177/2380084417724117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734460PMC
January 2018
9 Reads

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.

J Allergy Clin Immunol 2018 Sep 11;142(3):914-927.e6. Epub 2017 Dec 11.

Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD. Electronic address:

Background: Chediak-Higashi syndrome (CHS) is a rare disorder caused by biallelic mutations in the lysosomal trafficking regulator gene (LYST), resulting in formation of giant lysosomes or lysosome-related organelles in several cell types. The disease is characterized by immunodeficiency and a fatal hemophagocytic lymphohistiocytosis caused by impaired function of cytotoxic lymphocytes, including natural killer (NK) cells.

Objective: We sought to determine the underlying biochemical cause of the impaired cytotoxicity of NK cells in patients with CHS. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00916749173188
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http://dx.doi.org/10.1016/j.jaci.2017.10.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995607PMC
September 2018
9 Reads

[Umbilical cord blood transplantation in the treatment of Chediak-Higashi syndrome with hemophagocytic syndrome: a case report and literature review].

Zhonghua Xue Ye Xue Za Zhi 2017 Nov;38(11):986-988

Shanghai Daopei Hospital, Shanghai 200240, China.

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2017.11.019DOI Listing
November 2017
1 Read

Ultrastructural aspects of hairs of Chediak-Higashi syndrome.

J Eur Acad Dermatol Venereol 2018 Jun 26;32(6):e227-e229. Epub 2017 Dec 26.

EMBRAPA-CPA-CT, Rodovia BR 392, km 78, 9° Distrito, Pelotas, Brazil.

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http://dx.doi.org/10.1111/jdv.14750DOI Listing
June 2018
8 Reads

Rare inclusion bodies within monocytes at accelerated phase of Chediak-Higashi syndrome.

Clin Chem Lab Med 2018 04;56(5):e105-e107

Department of Clinical Laboratory, The Second Hospital of Hebei Medical University, 215#, Heping West Road, Shijiazhuang 050000, Hebei Province, P.R. China, Phone: +86-0311-66002720, Fax: +86-0311-66002213.

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http://dx.doi.org/10.1515/cclm-2017-0736DOI Listing
April 2018
8 Reads

Global phylogenetic analysis of contemporary aleutian mink disease viruses (AMDVs).

Virol J 2017 11 22;14(1):231. Epub 2017 Nov 22.

National Veterinary Institute, Technical University of Denmark, Bülowsvej 27, DK-1870, Frederiksberg C, Denmark.

Background: Aleutian mink disease has major economic consequences on the mink farming industry worldwide, as it causes a disease that affects both the fur quality and the health and welfare of the mink. The virus causing this disease is a single-stranded DNA virus of the genus Amdoparvovirus belonging to the family of Parvoviridae. In Denmark, infection with AMDV has largely been restricted to a region in the northern part of the country since 2001, affecting only 5% of the total Danish mink farms. Read More

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http://dx.doi.org/10.1186/s12985-017-0898-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700682PMC
November 2017
1 Read

Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.

Pediatr Dermatol 2017 Nov 16;34(6):638-646. Epub 2017 Oct 16.

Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet-dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid-like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. Read More

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http://dx.doi.org/10.1111/pde.13266DOI Listing
November 2017
12 Reads

Comparative molecular analysis of strains of the Aleutian Disease Virus isolated from farmed and wild mink.

Ann Agric Environ Med 2017 Sep 5;24(3):366-371. Epub 2017 Jul 5.

Department of Biological Basis of Animal Production, Faculty of Biology and Animal Breeding, University of Life Sciences, Lublin, Poland.

Introduction And Objective: Aleutian Disease is a significant biological factor causing substantial losses in mink farming. The virus inducing the disease also infects wild populations which may constitute an asymptomatic reservoir. To compare genetic variants of the AMD virus occurring in wild and farmed mink populations, an analysis was performed on a fragment of the VP2 protein sequence of the virus infecting both populations, taken from different living environments. Read More

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http://dx.doi.org/10.26444/aaem/75688DOI Listing
September 2017
6 Reads

and regulate vacuolar size and function in .

Cell Logist 2017 9;7(3):e1335270. Epub 2017 Jun 9.

Department of Biology, Birmingham-Southern College, Birmingham, AL, USA.

The yeast vacuole plays key roles in cellular stress responses. Here, we show that deletion of , the fission yeast homolog of the Chediak-Higashi Syndrome / gene, increases vacuolar size, similar to deletion of the Rab4 homolog . Overexpression of lvs1-YFP rescued vacuolar size in cells, but ypt4-YFP did not rescue , suggesting that may act downstream of . Read More

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http://dx.doi.org/10.1080/21592799.2017.1335270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602425PMC
June 2017
9 Reads

The Neurobeachin-like 2 Protein Regulates Mast Cell Homeostasis.

J Immunol 2017 10 8;199(8):2948-2957. Epub 2017 Sep 8.

Institute of Immunology, Jena University Hospital, 07743 Jena, Germany.

The neurobeachin-like 2 protein (Nbeal2) belongs to the family of beige and Chediak-Higashi (BEACH) domain proteins. Loss-of-function mutations in the human gene or Nbeal2 deficiency in mice cause gray platelet syndrome, a bleeding disorder characterized by macrothrombocytopenia, splenomegaly, and paucity of α-granules in megakaryocytes and platelets. We found that in mast cells, Nbeal2 regulates the activation of the Shp1-STAT5 signaling axis and the composition of the c-Kit/STAT signalosome. Read More

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http://dx.doi.org/10.4049/jimmunol.1700556DOI Listing
October 2017
14 Reads

Construction and Immunogenicity Analysis of Whole-Gene Mutation DNA Vaccine of Aleutian Mink Virus Isolated Virulent Strain.

Viral Immunol 2018 Jan/Feb;31(1):69-77. Epub 2017 Aug 22.

1 College of Chinese Medicine Material, Jilin Agricultural University , Changchun, People's Republic of China .

Aleutian mink disease (AD) is a chronic viral infection that causes autoimmune disorders in minks and presents a significant economic burden on mink farming. Despite the substantial challenges presented by AD, no effective vaccine is available and only partial protection has been achieved. We constructed a whole-gene nucleic acid vaccine from an isolated virulent Aleutian mink disease virus (ADV) strain (pcDNA3. Read More

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http://dx.doi.org/10.1089/vim.2017.0044DOI Listing
September 2018
36 Reads

A case of Chediak-Higashi syndrome presented with accelerated phase could be treated effectively by unrelated cord blood transplantation.

Pediatr Transplant 2017 Nov 1;21(7). Epub 2017 Aug 1.

Research Center of Hematology, Fudan University, Shanghai Daopei Hospital, Shanghai, China.

CHS is a rare immunodeficiency syndrome with defects in the functions of cytotoxic cells and neutrophils. Approximately 85% of patients with CHS undergo an AP within the first decade, which is similar to FHLH. Chemotherapy could induce transient remission, but only allogeneic HCT could correct the underlying genetic defect and prevent relapse. Read More

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http://doi.wiley.com/10.1111/petr.13014
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http://dx.doi.org/10.1111/petr.13014DOI Listing
November 2017
3 Reads

Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.

Int J Trichology 2017 Jan-Mar;9(1):38-41

Department of Pediatrics, Division of Pediatric Neurology, Rainbow Children's Tertiary Care Centre, Hyderabad, Telangana, India.

Gray hair syndromes are rare syndromes which have an autosomal recessive inheritance and are characterized by pigmentary dilution of skin and hair, defects in immunological function, and nervous system defects. They comprise three disorders namely Chediak-Higashi syndrome (CHS), Griscelli syndrome (GPS), and Elejalde syndrome. Clinically, it is difficult to distinguish these disorders as their clinical features may overlap. Read More

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http://dx.doi.org/10.4103/ijt.ijt_21_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514796PMC
August 2017
4 Reads

[Clinical and genetic aspects of albinism].

Presse Med 2017 Jul - Aug;46(7-8 Pt 1):648-654. Epub 2017 Jul 19.

CHU de Bordeaux, service de dermatologie, 33076 Bordeaux, France.

Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07554982173025
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http://dx.doi.org/10.1016/j.lpm.2017.05.020DOI Listing
September 2017
5 Reads

Outbreak tracking of Aleutian mink disease virus (AMDV) using partial NS1 gene sequencing.

Virol J 2017 06 21;14(1):119. Epub 2017 Jun 21.

National Veterinary Institute, Technical University of Denmark, Bülowsvej 27, DK-1870, Frederiksberg C, Denmark.

Background: Aleutian Mink Disease (AMD) is an infectious disease of mink (Neovison vison) and globally a major cause of economic losses in mink farming. The disease is caused by Aleutian Mink Disease Virus (AMDV) that belongs to the genus Amdoparvovirus within the Parvoviridae family. Several strains have been described with varying virulence and the severity of infection also depends on the host's genotype and immune status. Read More

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http://dx.doi.org/10.1186/s12985-017-0786-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480136PMC
June 2017
4 Reads

Evolutionary analysis of whole-genome sequences confirms inter-farm transmission of Aleutian mink disease virus.

J Gen Virol 2017 Jun 13;98(6):1360-1371. Epub 2017 Jun 13.

1​Kopenhagen Diagnostics, Kopenhagen Fur, Glostrup, Denmark.

Aleutian mink disease virus (AMDV) is a frequently encountered pathogen associated with mink farming. Previous phylogenetic analyses of AMDV have been based on shorter and more conserved parts of the genome, e.g. Read More

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http://dx.doi.org/10.1099/jgv.0.000777DOI Listing
June 2017
11 Reads

Distribution of Aleutian mink disease virus contamination in the environment of infected mink farms.

Vet Microbiol 2017 May 14;204:59-63. Epub 2017 Apr 14.

Department of Animal Pathology (INVESAGA Group), Faculty of Veterinary Sciences, Universidade de Santiago de Compostela, 27002 Lugo, Spain.

Control and eradication of Aleutian Mink Disease Virus (AMDV) are a major concern for fur-bearing animal production. Despite notably reducing disease prevalence, current control programs are unable to prevent the reinfection of farms, and environmental AMDV persistence seems to play a major role regarding this issue. In this study 114 samples from different areas and elements of seven infected mink farms were analyzed by qPCR in order to evaluate the environmental distribution of AMDV load. Read More

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http://dx.doi.org/10.1016/j.vetmic.2017.04.013DOI Listing
May 2017
6 Reads

A retrospective cohort study estimating the individual Aleutian disease progress in female mink using a VP2 ELISA and its association to reproductive performance.

Prev Vet Med 2017 May 24;140:60-66. Epub 2017 Feb 24.

The National Veterinary Institute, Department of Animal Health and Antimicrobial Strategies, SE-751 89 Uppsala, Sweden.

Aleutian Disease (AD) is an important disease in mink characterized by a persistent chronic infection typically causing a progressive disease with symptoms such as weight loss, polydipsia, polyuria, reduced reproductive performance and increased herd mortality. Due to lack of success in eradicating AD by stamping out, disease control programs based on estimating the disease progression have been implemented and used in the selection of future breeding animals. The aim of this project was to evaluate the association between the reproductive performance of female mink (expressed as being barren or not and litter size of non-barren females) and the individual AD status (defined as diseased or non-diseased based on the OD value in a dried blood spot samples (DBS) VP2 ELISA) while controlling for age and color type. Read More

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http://dx.doi.org/10.1016/j.prevetmed.2017.02.010DOI Listing
May 2017
10 Reads

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Front Immunol 2017 18;8:426. Epub 2017 Apr 18.

Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.

Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in , resulting in enlarged lysosomal compartments in multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects in T cell-mediated cytotoxicity has been observed. Read More

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http://dx.doi.org/10.3389/fimmu.2017.00426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394158PMC
April 2017
59 Reads

Oral mass revealing Chédiak-Higashi syndrome.

Int J Oral Maxillofac Surg 2017 Sep 26;46(9):1158-1161. Epub 2017 Apr 26.

Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.

This case report describes common oral inflammatory findings leading to the identification of Chédiak-Higashi syndrome (CHS). A 15-year-old girl presented with an enlarging and painful mass on the upper lip. Two weeks after the initial visit, the mass showed further protrusion in the absence of fever. Read More

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http://dx.doi.org/10.1016/j.ijom.2017.04.003DOI Listing
September 2017
3 Reads

The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.

J Cell Biol 2017 05 12;216(5):1301-1320. Epub 2017 Apr 12.

State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China

Autophagy-dependent clearance of ubiquitinated and aggregated proteins is critical to protein quality control, but the underlying mechanisms are not well understood. Here, we report the essential role of the BEACH (beige and Chediak-Higashi) and WD40 repeat-containing protein WDR81 in eliminating ubiquitinated proteins through autophagy. WDR81 associates with ubiquitin (Ub)-positive protein foci, and its loss causes accumulation of Ub proteins and the autophagy cargo receptor p62. Read More

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http://dx.doi.org/10.1083/jcb.201608039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412561PMC
May 2017
6 Reads

Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.

Turk J Haematol 2017 Dec 13;34(4):345-349. Epub 2017 Apr 13.

Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Genetic, Samsun, Turkey.

Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary immunodeficiencies and scheduled for hematopoietic stem cell transplantation. We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received hematopoietic stem cell transplantation. Read More

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http://dx.doi.org/10.4274/tjh.2016.0477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774364PMC
December 2017
24 Reads

Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature.

Intractable Rare Dis Res 2017 Feb;6(1):76-79

Department of Pediatrics, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.

Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genes are responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2 commonly develops hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency. Read More

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http://dx.doi.org/10.5582/irdr.2016.01084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359361PMC
February 2017
5 Reads

A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle.

BMC Genet 2017 03 29;18(1):30. Epub 2017 Mar 29.

Institute of Veterinary Medicine, University of Goettingen, Burckhardtweg 2, 37077, Goettingen, Germany.

Background: Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, mutations only affecting pigmentation of coat color and eye have also been described. Herein 18 Holstein Friesian cattle affected by bicolored and hypopigmented irises have been investigated. Read More

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http://bmcgenet.biomedcentral.com/articles/10.1186/s12863-01
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http://dx.doi.org/10.1186/s12863-017-0496-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372310PMC
March 2017
3 Reads

A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase.

Braz J Med Biol Res 2017 Mar 23;50(4):e5727. Epub 2017 Mar 23.

Department of Pediatric Hematology-Oncology, The Second Hospital of Hebei Medical University, Shijiazhuang, China.

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. Read More

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http://dx.doi.org/10.1590/1414-431X20165727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423745PMC
March 2017
4 Reads

Reduced severity of histopathological lesions in mink selected for tolerance to Aleutian mink disease virus infection.

Res Vet Sci 2017 Apr 16;111:127-134. Epub 2017 Feb 16.

Pathology Laboratory, Veterinary Services, Nova Scotia Department of Agriculture, Canada.

The objective of this study was to measure the effect of selection for tolerance on the severity of the Aleutian disease (AD) lesions in mink. Sensitivity and specificity of antibody detection in the blood by counter-immunoelectrophoresis (CIEP) relative to the presence of Aleutian mink disease virus (AMDV) in the spleen by PCR in naturally infected farmed mink were also estimated. Carcasses of 680 sero-positive (CIEP-P) black mink from 28 farms in Nova Scotia, Canada, and from 132 sero-negative (CIEP-N) mink from 14 of these farms were collected at pelting time. Read More

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http://dx.doi.org/10.1016/j.rvsc.2017.02.009DOI Listing
April 2017
2 Reads

Living-Donor Lung Transplantation After Bone Marrow Transplantation for Chediak-Higashi Syndrome.

Ann Thorac Surg 2017 Mar;103(3):e281-e283

Department of Thoracic Surgery, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address:

An 8-year-old girl with Chediak-Higashi syndrome (CHS) had pulmonary complications after hematopoietic stem cell transplantation (HSCT) for hemophagocytic lymphohistiocytosis (HLH) and eventually underwent single living-donor lobar lung transplantation (LDLLT). Electron micrographic findings showed vagus nerve tissue in extracted lung having granular inclusions, which are pathognomonic for CHS. Because her mother was the donor for both hematopoietic stem cell and lung transplantations, she was weaned from immunosuppression and is doing well 3 years after lung transplantation. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2016.08.049DOI Listing
March 2017
3 Reads

Chédiak-Higashi syndrome with novel gene mutation.

BMJ Case Rep 2017 Feb 9;2017. Epub 2017 Feb 9.

Haematolgy & Transfusion unit, Pathology Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.

Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5-6 years. Read More

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http://dx.doi.org/10.1136/bcr-2016-216628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307269PMC
February 2017
4 Reads

A fast and accurate method of detecting Aleutian mink disease virus in blood and tissues of chronically infected mink.

Can J Microbiol 2017 Apr 18;63(4):341-349. Epub 2017 Jan 18.

Department of Animal Science and Aquaculture, Dalhousie University Faculty of Agriculture, Truro, NS B2N 5E3, Canada.

The objective of this study was to assess the sensitivity of the Omni Klentaq-LA DNA polymerase for detecting Aleutian mink disease virus (AMDV) in mink blood and tissues by PCR without DNA extraction. The presence of AMDV DNA was directly tested by Klentaq in the plasma, serum, whole blood, and spleen homogenates of 188 mink 4 and 16 months after inoculation with the virus. Samples from bone marrow, small intestine, liver, lungs, kidneys, and lymph nodes of 20 of the same mink were also tested by Klentaq. Read More

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http://dx.doi.org/10.1139/cjm-2016-0567DOI Listing
April 2017
1 Read

Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.

Sci Rep 2017 02 1;7:41308. Epub 2017 Feb 1.

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by varying degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. This syndrome is molecularly characterized by pathognomonic mutations in the LYST (lysosomal trafficking regulator). Using whole genome sequencing (WGS) we attempted to identify novel mutations of CHS based on a family of CHS with atypical symptoms. Read More

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http://dx.doi.org/10.1038/srep41308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5286514PMC
February 2017
10 Reads

Pseudo Chediak-Higashi anomaly in acute monoblastic leukemia.

Blood 2016 11;128(21):2583

University of Texas MD Anderson Cancer Center.

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http://dx.doi.org/10.1182/blood-2016-08-732339DOI Listing
November 2016
4 Reads

Lysosomal trafficking regulator Lyst links membrane trafficking to toll-like receptor-mediated inflammatory responses.

J Exp Med 2017 01 23;214(1):227-244. Epub 2016 Nov 23.

Institute of Clinical Chemistry, Inflammation Research Group, Hannover Medical School, 30625 Hannover, Germany

Subcellular compartmentalization of receptor signaling is an emerging principle in innate immunity. However, the functional integration of receptor signaling pathways into membrane trafficking routes and its physiological relevance for immune responses is still largely unclear. In this study, using Lyst-mutant beige mice, we show that lysosomal trafficking regulator Lyst links endolysosomal organization to the selective control of toll-like receptor 3 (TLR3)- and TLR4-mediated proinflammatory responses. Read More

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http://dx.doi.org/10.1084/jem.20141461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206490PMC
January 2017
11 Reads

NK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2.

Immunol Lett 2016 12 2;180:46-53. Epub 2016 Nov 2.

Department of Molecular Medicine, Istituto Pasteur-Fondazione Cenci Bolognetti, "Sapienza" University of Rome, Italy.

NK cell cytotoxicity in Chédiak-Higashi syndrome (CHS) is strongly impaired as lytic granules are not released upon NK-target cell contact, contributing to several defects typical of this severe immunodeficiency. Correction of NK cell defects in CHS should improve the outcome of hematopoietic stem-cell transplantation, proposed as therapy. We investigated NK cell functions in a CHS patient before and after cord-blood transplantation, and the ability of in vitro IL-2 treatment to restore them. Read More

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http://dx.doi.org/10.1016/j.imlet.2016.10.009DOI Listing
December 2016
16 Reads