1,548 results match your criteria Chediak-Higashi Syndrome

A hungry Histiocyte, altered immunity and myriad of problems: Diagnostic challenges for Pediatric HLH.

Int J Lab Hematol 2021 Jun 12. Epub 2021 Jun 12.

Division of Pediatric Hematology/Oncology, Department of Pediatrics, VMMC and Safdarjung Hospital, New Delhi, India.

Introduction: Hemophagocytic lymphohistiocytosis (HLH) is an immune deregulation disorder with varied clinical presentation which clinically overlaps with widespread tropical infections.

Methods: We conducted a retrospective chart review of children diagnosed with HLH at our center from February-2017 to October-2020.

Results: Out of the nine diagnosed patients, genetic predisposition was present in three children; two had identified infectious triggers. Read More

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Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.

Pigment Cell Melanoma Res 2021 May 7. Epub 2021 May 7.

Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Madrid, Spain.

Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally associated with variable alterations in pigmentation and with a profound visual impairment. There are non-syndromic and syndromic types of OCA, depending on whether the gene product affected impairs essentially the function of melanosomes or, in addition, that of other lysosome-related organelles (LROs), respectively. Syndromic OCA can be more severe and associated with additional systemic consequences, beyond pigmentation and vision alterations. Read More

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Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.

Front Immunol 2021 31;12:625591. Epub 2021 Mar 31.

Department of Hematology, Hospital Universitario y Politécnico La Fe, Barcelona, Spain.

Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Read More

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Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Genes (Basel) 2021 Mar 30;12(4). Epub 2021 Mar 30.

Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.

Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky-Pudlak syndrome and Chédiak-Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene, . Read More

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Relapsed RUNX1-RUNX1T1-positive acute myeloid leukemia with pseudo-Chediak-Higashi granules.

Int J Hematol 2021 May 29;113(5):616-617. Epub 2021 Mar 29.

Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.

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Mauve/LYST limits fusion of lysosome-related organelles and promotes centrosomal recruitment of microtubule nucleating proteins.

Dev Cell 2021 Apr 15;56(7):1000-1013.e6. Epub 2021 Mar 15.

University of Cambridge, Department of Genetics, Downing Street, Cambridge CB23EH, UK; Division of Biology and Biological Engineering, California Institute of Technology, 1200 E, California Blvd, Pasadena, CA 91125, USA. Electronic address:

Lysosome-related organelles (LROs) are endosomal compartments carrying tissue-specific proteins, which become enlarged in Chediak-Higashi syndrome (CHS) due to mutations in LYST. Here, we show that Drosophila Mauve, a counterpart of LYST, suppresses vesicle fusion events with lipid droplets (LDs) during the formation of yolk granules (YGs), the LROs of the syncytial embryo, and opposes Rab5, which promotes fusion. Mauve localizes on YGs and at spindle poles, and it co-immunoprecipitates with the LDs' component and microtubule-associated protein Minispindles/Ch-TOG. Read More

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Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.

Allergol Immunopathol (Madr) 2021 1;49(2):178-190. Epub 2021 Mar 1.

Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Munich, Germany.

Primary immunodeficiency diseases (PIDs) are a group of more than 400 disorders representing aberrant functioning or development of immune system. Hypopigmentation syndromes also characterize a distinguished cluster of diseases. However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2 and type 10, Vici syndrome, and P14/LAMTOR2 deficiency, all of which are linked with dysfunction in vesicular/endosomal trafficking. Read More

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Neutrophil specific granule and NETosis defects in gray platelet syndrome.

Blood Adv 2021 01;5(2):549-564

Sanquin Research and Landsteiner Laboratory, Amsterdam University Medical Center, University of Amsterdam, The Netherlands.

Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. Rare loss-of-function variants in neurobeachin-like 2 (NBEAL2), a member of the family of beige and Chédiak-Higashi (BEACH) genes, are causal of GPS. It is suggested that BEACH domain containing proteins are involved in fusion, fission, and trafficking of vesicles and granules. Read More

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January 2021

[Chediak Higashi syndrome with cytotoxic T-cell lymphoma: a case report].

Zhonghua Xue Ye Xue Za Zhi 2020 12;41(12):1051

Department of Hematology and Oncology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450018, China.

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December 2020

Chediak-Higashi syndrome: a review of the past, present, and future.

Drug Discov Today Dis Models 2020 9;31:31-36. Epub 2019 Dec 9.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Since the initial description of Chediak-Higashi syndrome (CHS), over 75 years ago, several studies have been conducted to underscore the role of the lysosomal trafficking regulator gene in the pathogenesis of disease. CHS is a rare autosomal recessive disorder, which is caused by biallelic mutations in the highly conserved gene. The disease is characterized by partial oculocutaneous albinism, prolonged bleeding, immune and neurologic dysfunction, and risk for the development of hemophagocytic lympohistiocytosis (HLH). Read More

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December 2019

Chediak-Higashi Syndrome With Epstein-Barr Virus Triggered Hemophagocytic Lymphohistiocytosis: A Case Report.

Cureus 2020 Nov 13;12(11):e11467. Epub 2020 Nov 13.

Pediatric Medicine, Swai Man Singh Medical College, Jaipur, IND.

Chediak-Higashi syndrome (CHS) is a rare, autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections, progressive neurologic abnormalities, coagulation defects and a high risk of developing hemophagocytic lymphohistiocytosis characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult with poor prognosis. Here, we report a two-and-a-half-year-old male child who was diagnosed with Chediak-Higashi Syndrome based on silvery hair, pathognomonic hair microscopy and giant azurophilic granules in granulocytes. Read More

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November 2020

Chediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood after bone marrow transplantation.

Neurocase 2021 02 9;27(1):1-7. Epub 2020 Dec 9.

Department of Neurology, Lapland Central Hospital, Rovaniemi, Finland.

Chediak-Higashi syndrome (CHS) is a rare autosomal disorder characterized by immunodeficiency, albinism, and progressive neurologic abnormalities. While survivors of the childhood-onset disease are known to exhibit learning disabilities and neuropsychiatric disorders followed by middle-age dementia, we lack detailed data on the progression. We present the case of a young adult with records from infancy to the first signs of deterioration. Read More

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February 2021

Dietary supplementation of Ascophylum nodosum improved kidney function of mink challenged with Aleutian mink disease virus.

BMC Vet Res 2020 Nov 30;16(1):465. Epub 2020 Nov 30.

Perennia Food and Agriculture, Bible Hill, Nova Scotia, B4N 1J5, Canada.

Background: Feed additives which can ease the negative effects of infection by the Aleutian mink disease virus (AMDV) are of interest to mink farmers. The effects of kelp meal (Ascophylum nodosum) supplementation on immune response, virus replication and blood parameters of mink inoculated with AMDV were assessed. AMDV-free black mink (n = 75) were intranasally inoculated with a local strain of AMDV and fed a commercial pellet supplemented with kelp meal at the rates of 1. Read More

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November 2020

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.

Haematologica 2021 02 1;106(2):337-350. Epub 2021 Feb 1.

Institut Hospitalo-Universitaire LIRYC, Pessac.

Inherited platelet disorders resulting from platelet function defects and a normal platelet count cause a moderate or severe bleeding diathesis. Since the description of Glanzmann thrombasthenia resulting from defects of ITGA2B and ITGB3, new inherited platelet disorders have been discovered, facilitated by the use of high throughput sequencing and genomic analyses. Defects of RASGRP2 and FERMT3 responsible for severe bleeding syndromes and integrin activation have illustrated the critical role of signaling molecules. Read More

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February 2021

Haploidentical Stem Cell Transplant With Post-transplant Cyclophosphamide for Chediak-Higashi Syndrome: A Very Rare Case Report.

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

Department of Hematology, Pediatric Hemato-Oncology and Bone Marrow Transplant, Fortis Memorial Research Institute (FMRI), Gurugram, Haryana, India.

Chediak-Higashi syndrome is a rare immunodeficiency disorder for which hematopoietic stem cell transplant (HSCT) is the only curative treatment option. HSCT only corrects the hematological and immunologic manifestations of the disease but neurological complications may still progress after transplant. Haploidentical HSCT (haplo-HSCT) has evolved as a feasible alternative for patients with primary immunodeficiency. Read More

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October 2020

Melanosome transport and regulation in development and disease.

Pharmacol Ther 2021 Mar 17;219:107707. Epub 2020 Oct 17.

Skin Disease Research Institute, The 2nd Hospital, Zhejiang University, Hangzhou 310058, China. Electronic address:

Melanosomes are specialized membrane-bound organelles that synthesize and organize melanin, ultimately providing color to the skin, hair, and eyes. Disorders in melanogenesis and melanosome transport are linked to pigmentary diseases, such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome. Clinical cases of these pigmentary diseases shed light on the molecular mechanisms that control melanosome-related pathways. Read More

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Development of an antigen-capture enzyme-linked immunosorbent assay for diagnosis of Aleutian mink disease virus.

Arch Virol 2021 Jan 17;166(1):83-90. Epub 2020 Oct 17.

State Key Laboratory of Veterinary Biotechnology, Harbin Veterinary Research Institute, Chinese Academy of Agricultural Sciences, 678 Haping Road, Harbin, 150069, China.

Aleutian mink disease (AMD), caused by Aleutian mink disease virus (AMDV), is a very important infectious disease of mink. Currently, elimination of antibody- or antigen-positive animals is the most successful strategy for eradicating AMD, but the claw-cutting method of blood sampling is difficult to perform and painful for the animal. In this study, we aimed to establish an antigen capture enzyme-linked immunosorbent assay (AC-ELISA) method for the efficient detection of AMDV antigens using fecal samples. Read More

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January 2021

AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review.

J Allergy Clin Immunol Pract 2021 02 30;9(2):745-752.e1. Epub 2020 Sep 30.

Sorbonne Université, AP-HP, Hôpital Tenon, Service de médecine interne, Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), GRC-28 (Groupe de recherche clinique amylose AA Sorbonne univeristé), Paris, France. Electronic address:

Background: Primary immune deficiencies (PIDs) are a heterogeneous group of disorders resulting from defects in immune system. They lead to increased susceptibility to infections and immune dysregulation. The resulting chronic inflammation can induce long-term complications, including AA amyloidosis (AAA). Read More

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February 2021

Molecular epidemiology of Aleutian mink disease virus causing outbreaks in mink farms from Southwestern Europe: a retrospective study from 2012 to 2019.

J Vet Sci 2020 Jul;21(4):e65

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

Background: Aleutian mink disease virus (AMDV) causes major economic losses in fur-bearing animal production. The control of most AMDV outbreaks is complex due to the difficulties of establishing the source of infection based only on the available on-farm epidemiological data. In this sense, phylogenetic analysis of the strains present in a farm may help elucidate the origin of the infection and improve the control and biosecurity measures. Read More

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TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Clin Exp Immunol 2020 10 21;202(1):60-71. Epub 2020 Jul 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Primary immune deficiency (PID) disorders are clinically and molecularly heterogeneous diseases. T cell receptor excision circles (TRECs) and κ (kappa)-deleting excision circles (KRECs) are markers of T and B cell development, respectively. They are useful tools to assess T and B cell function and immune reconstitution and have been used for newborn screening for severe combined immunodeficiency disease (SCID) and agammaglobulinemia, respectively. Read More

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October 2020

Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines.

Stem Cell Res 2020 Jun 22;47:101883. Epub 2020 Jun 22.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA. Electronic address:

Chediak-Higashi Syndrome (CHS) is a lysosome-related organelle (LRO) disorder caused by biallelic mutations in the lysosomal trafficking regulator gene, LYST. The clinical features of CHS include oculocutaneous albinism, primary immunodeficiency, bleeding diathesis, risk for development of hemophagocyticlymphohistiocytosis,and progressive neurological problems. The pathophysiological mechanisms underlying this disease are unknown, so developing therapeutic options remains challenging. Read More

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Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.

J Pediatr Hematol Oncol 2020 08;42(6):e434-e439

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

Br J Haematol 2020 06 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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[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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Dose response of black American mink to Aleutian mink disease virus.

Immun Inflamm Dis 2020 06 13;8(2):150-164. Epub 2020 Mar 13.

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

Introduction: Aleutian mink disease virus (AMDV) causes a serious health problem for mink globally. The disease has no cure nor an effective vaccine and selection for tolerance using antibody titer is adopted by many mink farmers. The objective of this study was to investigate the effects of various doses of a local AMDV isolate on the response of black American mink to infection with AMDV. Read More

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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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February 2020

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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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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January 2020

Mink Aleutian disease seroprevalence in China during 1981-2017: A systematic review and meta-analysis.

Microb Pathog 2020 Feb 10;139:103908. Epub 2019 Dec 10.

College of Animal Science and Technology, Jilin Agricultural University, Changchun, Jilin Province, 130118, PR China. Electronic address:

Mink Aleutian disease (AMD) is the first of the three major diseases of fur animals. It is a common immunosuppressive disease in mink farms worldwide, which seriously endangers the development of the mink farming industry. Strengthening the understanding of the positive serum rate and spatial distribution of AMD is of great significance for the prevention and control of disease caused by the Aleutian virus. Read More

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February 2020