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    1467 results match your criteria Chediak-Higashi Syndrome

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    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

    Ypt4 and lvs1 regulate vacuolar size and function in Schizosaccharomyces pombe.
    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 lvs1, the fission yeast homolog of the Chediak-Higashi Syndrome CHS1/LYST gene, increases vacuolar size, similar to deletion of the Rab4 homolog ypt4. Overexpression of lvs1-YFP rescued vacuolar size in ypt4Δ cells, but ypt4-YFP did not rescue lvs1Δ, suggesting that lvs1 may act downstream of ypt4. Read More

    The Neurobeachin-like 2 Protein Regulates Mast Cell Homeostasis.
    J Immunol 2017 Oct 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 NBEAL2 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

    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

    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

    [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

    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

    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 OD450 value in a dried blood spot samples (DBS) VP2 ELISA) while controlling for age and color type. Read More

    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 LYST, 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

    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

    The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.
    J Cell Biol 2017 May 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

    Haematopoietic stem cell transplantation in primary immunodeficiency patients in the Black Sea Region of Turkey.
    Turk J Haematol 2017 Apr 13. Epub 2017 Apr 13.
    Objective: Haematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders.

    Materials And Methods: We retrospectively reviewed paediatric cases that were diagnosed with primary immunodeficiencies and scheduled for haematopoietic stem cell transplantation.

    Results: We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received haematopoietic stem cell transplantation. Read More

    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 MYO5A, RAB27A, MLPH 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

    A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle.
    BMC Genet 2017 Mar 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

    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

    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

    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

    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

    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

    Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
    Sci Rep 2017 Feb 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

    Lysosomal trafficking regulator Lyst links membrane trafficking to toll-like receptor-mediated inflammatory responses.
    J Exp Med 2017 Jan 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

    NK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2.
    Immunol Lett 2016 Dec 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

    Development of a Peptide ELISA for the Diagnosis of Aleutian Mink Disease.
    PLoS One 2016 1;11(11):e0165793. Epub 2016 Nov 1.
    Division of Infectious Diseases of Special Animal, Institute of Special Animal and Plant Sciences, The Chinese Academy of Agricultural Sciences, Changchun, China.
    Aleutian disease (AD) is a common immunosuppressive disease in mink farms world-wide. Since the 1980s, counterimmunoelectrophoresis (CIEP) has been the main detection method for infection with the Aleutian Mink Disease Virus (AMDV). In this study, six peptides derived from the AMDV structural protein VP2 were designed, synthesized, and used as ELISA antigens to detect anti-AMDV antibodies in the sera of infected minks. Read More

    Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.
    Muscle Nerve 2017 May 3;55(5):756-760. Epub 2017 Feb 3.
    Department of Neurology, School of Medical Sciences, University of Campinas - UNICAMP, Rua Tessália Vieira de Camargo,126. Cidade Universitaria "Zeferino Vaz", Campinas, SP, Brazil.
    Introduction: Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations.

    Methods: We describe clinical, laboratory, electrophysiological, and genetic findings of a patient who developed an immune-mediated demyelinating neuropathy as the main clinical feature of CHS. Read More

    Oral rehabilitation of patients with Chediak-Higashi syndrome using zygoma and root form implant-supported fixed prostheses: A report of two patients.
    J Prosthet Dent 2016 Dec 1;116(6):831-835. Epub 2016 Aug 1.
    Professor, Department of Dental Practice, Arthur A. Dugoni School of Dentistry, University of the Pacific, San Francisco, Calif.
    Chediak-Higashi syndrome (CH-S) is a rare genetic immunodeficiency disorder. Fewer than 500 individuals with CH-S have been reported worldwide in the past 20 years. The dental management of patients in whom CH-S has been diagnosed has been rarely reported and only in the form of a case report. Read More

    Peripheral nervous system manifestations of Chediak-Higashi disease.
    Muscle Nerve 2017 Mar 16;55(3):359-365. Epub 2016 Dec 16.
    Office of the Clinical Director, Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
    Introduction: Chediak-Higashi disease (CHD) is a rare autosomal recessive disorder with hematologic, infectious, pigmentary, and neurologic manifestations. Classic CHD (C-CHD) presents in early childhood with severe infectious or hematologic complications unless treated with bone marrow transplantation. Atypical CHD (A-CHD) has less severe hematologic and infectious manifestations. Read More

    Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.
    Cutis 2016 Jun;97(6):E1-5
    Department of Dermatology, Hospital Clínic, University of Barcelona, Spain.
    Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Griscelli syndrome (GS). We report the case of a 2-month-old male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative disorders. The patient was delivered at 35 weeks' gestation with congenital hydrops fetalis associated with a chromosomal abnormality (46,XY,add[2],[p23]), hypothyroidism, hypoproteinemia, and hypogammaglobulinemia. Read More

    Accuracy of enzyme-linked immunosorbent assays for quantification of antibodies against Aleutian mink disease virus.
    J Virol Methods 2016 Sep 6;235:144-51. Epub 2016 Jun 6.
    Department of Plant and Animal Sciences, Dalhousie University Faculty of Agriculture, Truro, Nova Scotia, B2N 5E3, Canada.
    There is a growing interest among mink ranchers to select their stock for tolerance to the Aleutian mink disease virus (AMDV). Enzyme-linked immunosorbent assays (ELISA) are used to identify mink which have low anti-AMDV antibody titres and are expected to tolerate the AMDV infection. The objective of this study was to calculate the accuracy of three ELISA systems which were performed on blood or serum of AMDV-inoculated American mink (Neovison vison) at five laboratories in Canada, USA, Finland, the Netherlands and Denmark. Read More

    Progression of experimental chronic Aleutian mink disease virus infection.
    Acta Vet Scand 2016 Jun 1;58(1):35. Epub 2016 Jun 1.
    National Veterinary Institute, Technical University of Denmark, Bülowsvej 27, 1870, Frederiksberg C, Denmark.
    Background: Aleutian mink disease virus (AMDV) is found world-wide and has a major impact on mink health and welfare by decreasing reproduction and fur quality. In the majority of mink, the infection is subclinical and the diagnosis must be confirmed by serology or polymerase chain reaction (PCR). Increased knowledge based on a systematically description of clinical signs, pathology and histopathology might be a tool to reduce the risk of infection from subclinically infected mink to AMDV free herds. Read More

    Genetic characterization of the complete genome of an Aleutian mink disease virus isolated in north China.
    Virus Genes 2016 Aug 23;52(4):463-73. Epub 2016 Mar 23.
    State Key Laboratory of Agrobiotechnology, Department of Biochemistry and Molecular Biology, College of Biological Sciences, China Agricultural University, No. 2 Yuanmingyuan West Road, Haidian District, Beijing, 100193, China.
    The genome of a highly pathogenic strain of Aleutian disease mink virus (AMDV-BJ) isolated from a domestic farm in North China has been determined and compared with other strains. Alignment analysis of the major structural protein VP2 revealed that AMDV-BJ is unique among 17 other AMDV strains. Compared with the nonpathogenic strain ADV-G, the 3' end Y-shaped hairpin was highly conserved, while a 4-base deletion in the 5' U-shaped terminal palindrome resulted in a different unpaired "bubble" group near the NS1-binding region of the 5' end hairpin which may affect replication efficiency in vivo. Read More

    Severe anemia due to parvovirus B19 in a silver haired boy.
    Indian J Pathol Microbiol 2016 Jan-Mar;59(1):110-2
    Department of Pediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India.
    Griscelli syndrome (GS) is a rare autosomal recessive immunodeficiency disorder in which the affected children present with characteristic silvery-white hairs. The hair microscopy of these children is characteristic and is helpful in differentiating GS from Chediak-Higashi syndrome which also presents with immunodeficiency and silver hairs. We report a 17-month-old boy with GS type 2 who presented with severe anemia. Read More

    Neurologic involvement in patients with atypical Chediak-Higashi disease.
    Neurology 2016 04 4;86(14):1320-8. Epub 2016 Mar 4.
    From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.
    Objective: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study.

    Methods: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing. Fibroblasts were collected to investigate the cellular phenotype and correlation with the clinical presentation. Read More

    Concordance of visual and structural features between siblings with albinism.
    J AAPOS 2016 Feb;20(1):34-6
    Departments of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis; Department of Pediatrics, University of Minnesota, Minneapolis. Electronic address:
    Purpose: To evaluate similarities and differences in visual function and ocular structure between siblings with albinism.

    Methods: The medical records of all siblings diagnosed with albinism were retrospectively reviewed. Comparisons were made using examination at oldest age for younger sibling and examination closest to that age for older siblings. Read More

    [MORPHOLOGICAL FEATURES OF NEUTROPHILS AND EOSINOPHILS GRANULES IN SAPPHIRE MINKS].
    Tsitologiia 2015 ;57(10):736-41
    It has been established that sapphire minks have abnormality of subcellular structure of blood and bone marrow neutrophils and eosinophils. The abnormality consists in forming of abnormal "giant" granules. The si- ze and the number of abnormal granules significantly change during maturation of leucocytes in bone marrow. Read More

    Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder.
    J Clin Diagn Res 2015 Dec 1;9(12):ED13-4. Epub 2015 Dec 1.
    Assistant Professor, Department of Pathology, King George Medical University , Lucknow, U.P., India .
    Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an accelerated lymphohistiocytic phase. Accelerated phase at initial presentation is rarely seen as it is usually preceded by repeated episodes of infections. Read More

    Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.
    Int J Trichology 2015 Jul-Sep;7(3):133-5
    Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India.
    Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Read More

    Premature loss of primary teeth with gingival erythema: An alert to dentist.
    J Oral Maxillofac Pathol 2015 May-Aug;19(2):271
    Department of Conservative Dentistry, Pt. B. D Sharma University of Health Sciences, Post Graduate Institute of Dental Sciences, Rohtak, Haryana, India.
    Premature exfoliation of primary teeth is an important diagnostic event warranting urgent investigation. The majority of conditions presenting with early loss of teeth are serious and in some cases could be fatal. The most common causes of premature tooth loss are Papillion-Lefevre syndrome, Chediak-Higashi syndrome, hypophosphatasia, neutropenia, leukemia and in some cases Langerhans cell histiocytosis (LCH). Read More

    Development of an Enzyme-Linked Immunosorbent Assay Based on Fusion VP2332-452 Antigen for Detecting Antibodies against Aleutian Mink Disease Virus.
    J Clin Microbiol 2016 Feb 18;54(2):439-42. Epub 2015 Nov 18.
    State Key Laboratory of Veterinary Biotechnology, Harbin Veterinary Research Institute of Chinese Academy of Agricultural Sciences, Harbin, China
    For detection of Aleutian mink disease virus (AMDV) antibodies, an enzyme-linked immunosorbent assay (ELISA) was developed using the recombinant VP2332-452 protein as an antigen. Counterimmunoelectrophoresis (CIEP) was used as a reference test to compare the results of the ELISA and Western blotting (WB); the specificity and sensitivity of the VP2332-452 ELISA were 97.9% and 97. Read More

    Chediak-Higashi Syndrome: A Case Series from Karnataka, India.
    Indian J Dermatol 2015 Sep-Oct;60(5):524
    Department of Pathology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granulecontaining cells. The abnormal granules are readily seen in blood and marrow granulocytes. Other clinical features include silvery hair, photophobia, nystagmus and hepatosplenomegaly. Read More

    [Differential diagnostics of hypomelanoses].
    Hautarzt 2015 Dec;66(12):945-58; quiz 959-60
    Klinik für Hautkrankheiten, Universitätsklinikum Münster, Von-Esmarch-Str. 58, 48149, Münster, Deutschland.
    Hypomelanoses of the skin encompass a wide spectrum of congenital and acquired alterations in melanin pigmentation. These diseases can be localized or universal. The pathobiology of cutaneous hypomelanoses is heterogeneous and includes defects in melanoblast migration from the neural crest to the epidermis, alterations in melanogenesis and melanin transfer to keratinocytes, and destruction of pigment cells by autoimmune and inflammatory processes. Read More

    PREVALENCE OF ANTIBODY TO ALEUTIAN MINK DISEASE VIRUS IN EUROPEAN MINK (MUSTELA LUTREOLA) AND AMERICAN MINK (NEOVISON VISON) IN SPAIN.
    J Wildl Dis 2016 Jan 3;52(1):22-32. Epub 2015 Nov 3.
    7  Departament de Sanitat i Anatomia Animal, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.
    The European mink (Mustela lutreola) has undergone a dramatic decline and is one of the most endangered mammals in the world. The invasive American mink (Neovison vison) is considered the main factor for this decline. However, the American mink's introduction and the subsequent ecological concurrence of the two species cannot solely explain the decline or disappearance of the European mink. Read More

    Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome.
    Pediatr Transplant 2016 Mar 29;20(2):271-5. Epub 2015 Oct 29.
    Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan.
    The clinical outcome of allogeneic HSCT was retrospectively analyzed in eight patients with CHS. In total, six of these eight patients are alive. Four of five patients transplanted with MAC achieved prompt engraftment, and three of the four patients, including two patients with AP before transplant, are alive without disease. Read More

    A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
    Int J Dermatol 2016 Mar 24;55(3):317-21. Epub 2015 Oct 24.
    Division of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.
    Chediak-Higashi syndrome (CHS; OMIM no. 214500) is an inherited multisystem disorder presenting with hypopigmentation and a propensity to infections due to immunological dysfunction. CHS generally presents in infancy with a fatal outcome, but less severe cases can present in adulthood. Read More

    Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.
    J Allergy Clin Immunol 2016 Apr 21;137(4):1165-1177. Epub 2015 Oct 21.
    Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, Md. Electronic address:
    Background: Mutations in lysosomal trafficking regulator (LYST) cause Chediak-Higashi syndrome (CHS), a rare immunodeficiency with impaired cytotoxic lymphocyte function, mainly that of natural killer (NK) cells. Our understanding of NK cell function deficiency in patients with CHS and how LYST regulates lytic granule exocytosis is very limited.

    Objective: We sought to delineate cellular defects associated with LYST mutations responsible for the impaired NK cell function seen in patients with CHS. Read More

    [Sequencing Analyses of the Hypervariable Region within the VP2 Gene of a Strain of the Aleutian Mink Disease Virus].
    Bing Du Xue Bao 2015 May;31(3):226-30
    To analyze the molecular mechanisms of cross-host transmission of the Aleutian mink disease vi rus (ADV), the hypervariable region fragment of the VP2 gene of the ADV in Jilin Province (China) was amplified. Sequencing analyses showed diversity at residue 174 by comparison with other VP2 genes in GenBank. The phylogenetic tree indicated that the ADV-JL strain had a close relationship with the highly pathogenic strain from Denmark: ADV-K. Read More

    Lysosomal Trafficking Regulator (LYST).
    Adv Exp Med Biol 2016 ;854:745-50
    The Jackson Laboratory, 04609, Bar Harbor, ME, USA.
    Regulation of vesicle trafficking to lysosomes and lysosome-related organelles (LROs) as well as regulation of the size of these organelles are critical to maintain their functions. Disruption of the lysosomal trafficking regulator (LYST) results in Chediak-Higashi syndrome (CHS), a rare autosomal recessive disorder characterized by oculocutaneous albinism, prolonged bleeding, severe immunodeficiency, recurrent bacterial infection, neurologic dysfunction and hemophagocytic lympohistiocytosis (HLH). The classic diagnostic feature of the syndrome is enlarged LROs in all cell types, including lysosomes, melanosomes, cytolytic granules and platelet dense bodies. Read More

    Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.
    Br J Ophthalmol 2016 May 25;100(5):704-7. Epub 2015 Aug 25.
    Division of Neuro-ophthalmology, Department of Neurology, New York University School of Medicine, New York, New York, USA.
    Background: The classic form of Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder of lysosomal trafficking with childhood onset caused by mutations in ITALIC! LYST, is typified ophthalmologically by ocular albinism with vision loss attributed to foveal hypoplasia or nystagmus. Optic nerve involvement and ophthalmological manifestations of the late-onset neurodegenerative form of CHS are rarely reported and poorly detailed.

    Methods: Case series detailing ophthalmological and neurological findings in three adult siblings with the late-onset form of CHS. Read More

    Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.
    Hematol Oncol Stem Cell Ther 2016 Jun 1;9(2):71-5. Epub 2015 Aug 1.
    Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia.
    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Read More

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