1,233 results match your criteria Chediak-Higashi 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
Blood Res 2018 Sep 28;53(3):188. Epub 2018 Sep 28.
Department of Hematology-Oncology, Ajou University School of Medicine, Suwon, Korea.
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
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
Leuk Res 2018 Jun 8;70:87-90. Epub 2018 Jun 8.
Service and Central Laboratory of Hematology, CHUV, University Hospital of Lausanne, Lausanne, Switzerland.
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
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
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.
Blood Res 2017 Dec 26;52(4):240. Epub 2017 Dec 26.
Lab Hematology Division, Department of Pathology, Institute of Medical Sciences and Sum Hospital, Bhubaneswar, India.
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
J Allergy Clin Immunol 2018 Sep 11;142(3):914-927.e6. Epub 2017 Dec 11.
Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD. Electronic address:
Background: Chediak-Higashi syndrome (CHS) is a rare disorder caused by biallelic mutations in the lysosomal trafficking regulator gene (LYST), resulting in formation of giant lysosomes or lysosome-related organelles in several cell types. The disease is characterized by immunodeficiency and a fatal hemophagocytic lymphohistiocytosis caused by impaired function of cytotoxic lymphocytes, including natural killer (NK) cells.
Objective: We sought to determine the underlying biochemical cause of the impaired cytotoxicity of NK cells in patients with CHS. Read More
Zhonghua Xue Ye Xue Za Zhi 2017 Nov;38(11):986-988
Shanghai Daopei Hospital, Shanghai 200240, China.
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.
Front Plant Sci 2017 20;8:1969. Epub 2017 Nov 20.
Botanical Institute, Cologne Biocenter, University of Cologne, Cologne, Germany.
Beige and Chediak Higashi (BEACH) domain-containing proteins (BDCPs) are facilitators of membrane-dependent cellular processes in eukaryotes. Mutations in BDCPs cause malfunctions of endosomal compartments in various cell types. Recently, the molecular analysis of the BDCP homolog gene () has revealed a molecular function in P-bodies and the regulation of RNA stability. Read More
Clin Chem Lab Med 2018 Apr;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.
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
Br J Haematol 2018 01 29;180(2):175. Epub 2017 Sep 29.
Division of Pathology and Clinical Laboratories, National Cancer Centre Hospital, Tokyo, Japan.
Cell Logist 2017 9;7(3):e1335270. Epub 2017 Jun 9.
Department of Biology, Birmingham-Southern College, Birmingham, AL, USA.
The yeast vacuole plays key roles in cellular stress responses. Here, we show that deletion of , the fission yeast homolog of the Chediak-Higashi Syndrome / gene, increases vacuolar size, similar to deletion of the Rab4 homolog . Overexpression of lvs1-YFP rescued vacuolar size in cells, but ypt4-YFP did not rescue , suggesting that may act downstream of . Read More
J Immunol 2017 10 8;199(8):2948-2957. Epub 2017 Sep 8.
Institute of Immunology, Jena University Hospital, 07743 Jena, Germany.
The neurobeachin-like 2 protein (Nbeal2) belongs to the family of beige and Chediak-Higashi (BEACH) domain proteins. Loss-of-function mutations in the human gene or Nbeal2 deficiency in mice cause gray platelet syndrome, a bleeding disorder characterized by macrothrombocytopenia, splenomegaly, and paucity of α-granules in megakaryocytes and platelets. We found that in mast cells, Nbeal2 regulates the activation of the Shp1-STAT5 signaling axis and the composition of the c-Kit/STAT signalosome. Read More
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
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
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
Front Immunol 2017 18;8:426. Epub 2017 Apr 18.
Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in , resulting in enlarged lysosomal compartments in multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects in T cell-mediated cytotoxicity has been observed. Read More
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
J Cell Biol 2017 05 12;216(5):1301-1320. Epub 2017 Apr 12.
State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China
Autophagy-dependent clearance of ubiquitinated and aggregated proteins is critical to protein quality control, but the underlying mechanisms are not well understood. Here, we report the essential role of the BEACH (beige and Chediak-Higashi) and WD40 repeat-containing protein WDR81 in eliminating ubiquitinated proteins through autophagy. WDR81 associates with ubiquitin (Ub)-positive protein foci, and its loss causes accumulation of Ub proteins and the autophagy cargo receptor p62. Read More
Turk J Haematol 2017 Dec 13;34(4):345-349. Epub 2017 Apr 13.
Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Genetic, Samsun, Turkey.
Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary immunodeficiencies and scheduled for hematopoietic stem cell transplantation. We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received hematopoietic stem cell transplantation. Read More
Intractable Rare Dis Res 2017 Feb;6(1):76-79
Department of Pediatrics, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genes are responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2 commonly develops hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency. Read More
BMC Genet 2017 03 29;18(1):30. Epub 2017 Mar 29.
Institute of Veterinary Medicine, University of Goettingen, Burckhardtweg 2, 37077, Goettingen, Germany.
Background: Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, mutations only affecting pigmentation of coat color and eye have also been described. Herein 18 Holstein Friesian cattle affected by bicolored and hypopigmented irises have been investigated. Read More
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
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
Neurology 2017 02;88(7):e57-e65
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., S.G.Z., M.C.V.M. 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
Neurology 2017 02;88(7):721
Neurology 2017 02;88(7):720
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
Sci Rep 2017 02 1;7:41308. Epub 2017 Feb 1.
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by varying degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. This syndrome is molecularly characterized by pathognomonic mutations in the LYST (lysosomal trafficking regulator). Using whole genome sequencing (WGS) we attempted to identify novel mutations of CHS based on a family of CHS with atypical symptoms. Read More
J Clin Diagn Res 2016 Nov 1;10(11):ED19-ED20. Epub 2016 Nov 1.
Head of Department, Department of Pathology, University College of Medical Sciences , Delhi, India .
Congenital leukaemia is a very rare entity comprising 0.8% of all childhood leukaemias. Pseudo-Chediak-Higashi Anomaly (PCHA) in acute leukaemia is a rarely described entity. Read More
Blood 2016 11;128(21):2583
University of Texas MD Anderson Cancer Center.
J Exp Med 2017 01 23;214(1):227-244. Epub 2016 Nov 23.
Institute of Clinical Chemistry, Inflammation Research Group, Hannover Medical School, 30625 Hannover, Germany
Subcellular compartmentalization of receptor signaling is an emerging principle in innate immunity. However, the functional integration of receptor signaling pathways into membrane trafficking routes and its physiological relevance for immune responses is still largely unclear. In this study, using Lyst-mutant beige mice, we show that lysosomal trafficking regulator Lyst links endolysosomal organization to the selective control of toll-like receptor 3 (TLR3)- and TLR4-mediated proinflammatory responses. Read More
Immunol Lett 2016 12 2;180:46-53. Epub 2016 Nov 2.
Department of Molecular Medicine, Istituto Pasteur-Fondazione Cenci Bolognetti, "Sapienza" University of Rome, Italy.
NK cell cytotoxicity in Chédiak-Higashi syndrome (CHS) is strongly impaired as lytic granules are not released upon NK-target cell contact, contributing to several defects typical of this severe immunodeficiency. Correction of NK cell defects in CHS should improve the outcome of hematopoietic stem-cell transplantation, proposed as therapy. We investigated NK cell functions in a CHS patient before and after cord-blood transplantation, and the ability of in vitro IL-2 treatment to restore them. Read More
Br J Haematol 2017 01 4;176(2):156. Epub 2016 Nov 4.
Clinical Pathology, Spedali Riuniti, Livorno, Italy.
Neurology 2017 02 28;88(7):721. Epub 2016 Sep 28.
Muscle Nerve 2017 05 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
Int J Hematol 2016 Dec 18;104(6):637-638. Epub 2016 Aug 18.
Department of Hematology and Oncology, Tokai University School of Medicine, Isehara, Kanagawa, 259-1193, Japan.
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
Muscle Nerve 2017 03 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
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,[p23]), hypothyroidism, hypoproteinemia, and hypogammaglobulinemia. Read More