1,521 results match your criteria Chediak-Higashi Syndrome


Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.

J Pediatr Hematol Oncol 2020 Apr 21. Epub 2020 Apr 21.

Department of Pediatrics, Division of Pediatric Immunology.

Hemophagocytic lymphohistiocytosis (HLH) is characterized by uncontrolled and excessive immune responses with high mortality. We aimed to define mortality-related parameters in HLH secondary to primary immunodeficiency (PID). A total of 28 patients with HLH between the years 2013 and 2017 were enrolled in the study. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001803DOI Listing

Chédiak-Higashi syndrome approached by several different microscopy imaging technologies.

Br J Haematol 2020 Jun 3;189(6):1001. Epub 2020 Apr 3.

Department of Pathology Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo‎, Brazil.

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http://dx.doi.org/10.1111/bjh.16582DOI Listing

[Identification of a novel CHS1/LYST variant in a Chinese pedigree affected with Chediak-Higashi syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Apr;37(4):441-444

Department of Hematology and Oncology, Children's Hospital of Fudan University, Shanghai 201102, China.

Objective: To detect pathological variant in two patients with Chediak-Higashi syndrome (CHS) from a consanguineous family and to explore its genotype-phenotype correlation.

Methods: Clinical data was collected for this pedigree. Genomic DNA was prepared from probands' peripheral leukocytes and their relatives' fingernail. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.04.019DOI Listing

Novel MRI Finding of Bilateral Globus Pallidal Involvement in Accelerated Phase of Chédiak -Higashi Syndrome.

Ann Indian Acad Neurol 2020 Jan-Feb;23(1):126-129

Department of Radiology, Narayana Health City, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.4103/aian.AIAN_213_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001451PMC
February 2020
0.514 Impact Factor

Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST.

Sci Rep 2020 01 9;10(1):64. Epub 2020 Jan 9.

Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO, 65211, USA.

Chediak-Higashi Syndrome (CHS) is a well-characterized, autosomal recessively inherited lysosomal disease caused by mutations in lysosomal trafficking regulator (LYST). The feline model for CHS was originally maintained for ~20 years. However, the colonies were disbanded and the CHS cat model was lost to the research community before the causative mutation was identified. Read More

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http://dx.doi.org/10.1038/s41598-019-56896-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6952417PMC
January 2020

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.

BMC Med Genet 2020 01 6;21(1). Epub 2020 Jan 6.

School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China.

Background: Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to other species such as bovine and mouse. To date, 74 pathogenic or likely pathogenic mutations had been reported. Read More

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http://dx.doi.org/10.1186/s12881-019-0922-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943916PMC
January 2020

Chediak-Higashi Syndrome.

Arch Iran Med 2019 11 1;22(11):673-674. Epub 2019 Nov 1.

Student Research Committee, Kurdistan University of Medical Sciences, Sanandaj, Iran.

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November 2019

[A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome].

Zhonghua Er Ke Za Zhi 2019 12;57(12):963-965

Department of Hematology, Anhui Provincial Children's Hospital, Hefei 230001, China.

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2019.12.015DOI Listing
December 2019

Concentric Macular Rings Sign in Chediak-Higashi Syndrome.

Ophthalmology 2019 12;126(12):1616

Centre Hospitalier Universitaire de l'Hôpital Nord, chemin des Bourrely, Marseille, France.

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http://dx.doi.org/10.1016/j.ophtha.2019.07.005DOI Listing
December 2019

Neutrophil Defects and Diagnosis Disorders of Neutrophil Function: An Overview.

Authors:
Mary C Dinauer

Methods Mol Biol 2020 ;2087:11-29

Department of Pediatrics (Hematology/Oncology), St. Louis Children's Hospital, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.

Primary disorders of neutrophil function result from impairment in neutrophil responses that are critical for host defense. This chapter summarizes inherited disorders of neutrophils that cause defects in neutrophil adhesion, migration, and oxidative killing. These include the leukocyte adhesion deficiencies, actin defects and other disorders of chemotaxis, hyperimmunoglobulin E syndrome, Chédiak-Higashi Syndrome, neutrophil specific granule deficiency, chronic granulomatous disease, and myeloperoxidase deficiency. Read More

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http://dx.doi.org/10.1007/978-1-0716-0154-9_2DOI Listing
January 2020

Chediak-Higashi syndrome: Lessons from a single-centre case series.

Allergol Immunopathol (Madr) 2019 Nov - Dec;47(6):598-603. Epub 2019 Aug 30.

Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, Brazil.

Background: Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disease characterized by frequent bacterial infections, bleeding tendency, oculocutaneous albinism, photosensitivity and progressive neurologic dysfunction. Owing to the rarity of this condition, the objective of this study was to describe patients with CHS.

Methods: Retrospective evaluation of patients followed in a paediatric tertiary centre of Allergy and Immunology of São Paulo, Brazil, between 1986 and 2018 with a confirmed diagnosis of CHS. Read More

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http://dx.doi.org/10.1016/j.aller.2019.04.010DOI Listing
April 2020
6 Reads

Breeding parameters on a mink farm infected with Aleutian mink disease virus following the use of methisoprinol.

Arch Virol 2019 Nov 19;164(11):2691-2698. Epub 2019 Aug 19.

Department of Biological Basis of Animal Production, Faculty of Biology, Animal Sciences and Bioeconomy, University of Life Sciences in Lublin, Akademicka 13, 20-950, Lublin, Poland.

Aleutian mink disease virus is one of the greatest threats to modern mink farming. The disease reduces fecundity and causes high mortality among kits. The aim of this study was to evaluate the effectiveness of methisoprinol in counteracting the effects of Aleutian disease, both by inhibiting replication of the virus and by mitigating the harmful effects of the disease on the fecundity and weight of infected animals. Read More

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http://dx.doi.org/10.1007/s00705-019-04375-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768903PMC
November 2019
3 Reads

Detailed hair shaft analysis in a man with delayed-onset Chediak-Higashi syndrome.

Br J Dermatol 2020 01 4;182(1):223-225. Epub 2019 Sep 4.

Department of Dermatology, St John's Institute of Dermatology, London, U.K.

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http://dx.doi.org/10.1111/bjd.18341DOI Listing
January 2020
7 Reads

Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome.

Indian Pediatr 2019 06;56(6):501-503

Department of Paediatrics, Indira Gandhi Institute of Child Health, Bangaluru, Karnataka, India.

Background: Neurological manifestations of Chediak-Higashi syndrome mainly include peripheral neuropathy, ataxia, tremors, cranial nerve palsies, intellectual decline and seizures.

Case Characteristics: A 2 years 10 month old girl with silvery hair syndrome presented with sub-acute onset behavioral issues, ataxia and multiple type abnormal movements. Cerebrospinal fluid examination was positive for Anti NMDA receptor antibodies. Read More

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June 2019
5 Reads
1.014 Impact Factor

Novel gene mutations in Chédiak-Higashi syndrome with hyperpigmentation.

J Dermatol 2019 Nov 27;46(11):e416-e418. Epub 2019 Jun 27.

Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1111/1346-8138.14987DOI Listing
November 2019
1 Read

The neuropsychological phenotype of Chediak-Higashi disease.

Orphanet J Rare Dis 2019 05 6;14(1):101. Epub 2019 May 6.

National Human Genome Research Institute, Bethesda, MD, USA.

Background/objectives: Chediak-Higashi Disease (CHD) is a rare autosomal disorder, purported to have cognitive and neurological impairments. Prior descriptions of cognitive impairment, however, are solely based on subjective, unstructured observations rather than on formal neuropsychological measures.

Methods: Four pediatric and 14 adult patients with diagnostically confirmed CHD were administered a neuropsychological battery assessing memory, attention, processing speed, psychomotor speed, language fluency, executive function, and general intelligence. Read More

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http://dx.doi.org/10.1186/s13023-019-1049-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503440PMC
May 2019
26 Reads

Mouse models and strain-dependency of Chédiak-Higashi syndrome-associated neurologic dysfunction.

Sci Rep 2019 05 1;9(1):6752. Epub 2019 May 1.

VA Center for the Prevention and Treatment of Visual Loss, Iowa City VA Health Care System, Iowa City, IA, 52246, USA.

Chédiak-Higashi syndrome (CHS) is a lethal disorder caused by mutations in the LYST gene that involves progressive neurologic dysfunction. Lyst-mutant mice exhibit neurologic phenotypes that are sensitive to genetic background. On the DBA/2J-, but not on the C57BL/6J-background, Lyst-mutant mice exhibit overt tremor phenotypes associated with loss of cerebellar Purkinje cells. Read More

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http://dx.doi.org/10.1038/s41598-019-42159-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6494809PMC
May 2019
10 Reads

The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

Traffic 2019 06;20(6):404-435

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania.

Lysosome-related organelles (LROs) comprise a diverse group of cell type-specific, membrane-bound subcellular organelles that derive at least in part from the endolysosomal system but that have unique contents, morphologies and functions to support specific physiological roles. They include: melanosomes that provide pigment to our eyes and skin; alpha and dense granules in platelets, and lytic granules in cytotoxic T cells and natural killer cells, which release effectors to regulate hemostasis and immunity; and distinct classes of lamellar bodies in lung epithelial cells and keratinocytes that support lung plasticity and skin lubrication. The formation, maturation and/or secretion of subsets of LROs are dysfunctional or entirely absent in a number of hereditary syndromic disorders, including in particular the Hermansky-Pudlak syndromes. Read More

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http://dx.doi.org/10.1111/tra.12646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541516PMC
June 2019
12 Reads

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.

Medicina (Kaunas) 2019 Mar 25;55(3). Epub 2019 Mar 25.

Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy.

The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. GHSs encompass Griscelli, Chediak⁻Higashi, Elejalde, and Cross syndromes, which are all characterized by a broad spectrum of severe multisystem disorders, including neurological, ocular, skeletal, and immune system impairment. Read More

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http://dx.doi.org/10.3390/medicina55030078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6473230PMC
March 2019
10 Reads

Silvery Gray Hair: A Clue to Diagnosing Chédiak-Higashi Syndrome.

J Pediatr 2019 Jun 14;209:255-255.e1. Epub 2019 Mar 14.

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

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http://dx.doi.org/10.1016/j.jpeds.2019.02.004DOI Listing
June 2019
2 Reads

A comparison between intraperitoneal injection and intranasal and oral inoculation of mink with Aleutian mink disease virus.

Res Vet Sci 2019 Jun 26;124:85-92. Epub 2019 Feb 26.

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

Intranasal, with (INS) and without (IN) sedation, and oral inoculation were compared with intraperitoneal (IP) injection for establishing infection with a local isolate of Aleutian mink disease virus (AMDV) in 35 American mink. Blood samples were collected on 0, 21, 36 and 56 day post-inoculation (dpi). Antiviral-antibodies and viral DNA in plasma and tissues were measured by counter-immunoelectrophoresis (CIEP) and PCR, respectively. Read More

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http://dx.doi.org/10.1016/j.rvsc.2019.02.006DOI Listing
June 2019
2 Reads

Genetic analysis in Egyptian patients with Chediak-Higashi syndrome reveals new LYST mutations.

Clin Exp Dermatol 2019 Oct 27;44(7):814-817. Epub 2019 Feb 27.

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

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http://doi.wiley.com/10.1111/ced.13937
Publisher Site
http://dx.doi.org/10.1111/ced.13937DOI Listing
October 2019
13 Reads

Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immune Deficiency Disorders in Children: Challenges and Outcome from a Tertiary Care Center in South India.

J Clin Immunol 2019 02 18;39(2):182-187. Epub 2019 Feb 18.

Department of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, 320, Padma complex, Anna salai, Teynampet, Chennai, Tamil Nadu, 600035, India.

Haploidentical stem cell transplantation (haplo SCT) has emerged as an acceptable alternative to matched family donor transplantation for children diagnosed to have primary immune deficiency disorders (PIDs). We present data over 4 years on the challenges and efficacy of unmanipulated T cell replete haplo SCTs with post-transplant cyclophosphamide (PTCy) in children diagnosed to have PIDs. We performed a retrospective study in the pediatric blood and marrow transplantation unit where all children less than 18 years of age diagnosed to have PIDs and who underwent haplo SCT with PTCy from January 2014 to February 2018 were included in the study. Read More

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http://dx.doi.org/10.1007/s10875-019-00600-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7100782PMC
February 2019
29 Reads
3.184 Impact Factor

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

Int Immunopharmacol 2019 Apr 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
April 2019
9 Reads

Co-circulation of highly diverse Aleutian mink disease virus strains in Finland.

J Gen Virol 2019 02 10;100(2):227-236. Epub 2018 Dec 10.

1​Department of Veterinary Biosciences, Faculty of Veterinary Medicine, University of Helsinki, Agnes Sjöbergin katu 2, 00790, Helsinki, Finland.

Aleutian mink disease virus (AMDV) is the causative agent of Aleutian disease (AD), which affects mink of all genotypes and also infects other mustelids such as ferrets, martens and badgers. Previous studies have investigated diversity in Finnish AMDV strains, but these studies have been restricted to small parts of the virus genome, and mostly from newly infected farms and free-ranging mustelids. Here, we investigated the diversity and evolution of Finnish AMDV strains by sequencing the complete coding sequences of 31 strains from mink originating from farms differing in their virus history, as well as from free-ranging mink. Read More

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http://dx.doi.org/10.1099/jgv.0.001187DOI Listing
February 2019
2 Reads

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
14 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
27 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
8 Reads

[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
5 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
5 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
4 Reads

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
12 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
6 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
12 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
20 Reads

A lysosome targetable versatile fluorescent probe for imaging viscosity and peroxynitrite with different fluorescence signals in living cells.

J Mater Chem B 2018 Jan 8;6(4):580-585. Epub 2018 Jan 8.

Key Laboratory of Cluster Science of Ministry of Education, Beijing Key Laboratory of Photoelectronic/Electrophotonic Conversion Materials, Analytical and Testing Center, School of Chemistry and Chemical Engineering, Beijing Institute of Technology, Beijing 100081, P. R. China.

The lysosome, which acts as the cellular recycling centre, is filled with numerous hydrolases that can degrade most cellular macromolecules. The abnormalities of the lysosome are closely associated with diseases, such as Heřmanský-Pudlák syndrome, Griscelli syndrome and Chédiak-Higashi syndrome. Studies have shown that abnormal viscosity and the accumulation of reactive oxygen species (ROS) in the lysosome will disorder the normal function of the lysosome. Read More

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http://dx.doi.org/10.1039/c7tb02615cDOI Listing
January 2018

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
18 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
14 Reads

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

J Allergy Clin Immunol 2018 09 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
39 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
3 Reads

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
16 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
11 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
6 Reads

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
21 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
11 Reads