1,578 results match your criteria Chediak-Higashi Syndrome

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes (Basel) 2022 Jun 16;13(6). Epub 2022 Jun 16.

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 75471, Aljouf, Saudi Arabia.

Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, photophobia, reduced visual acuity, hypo-plastic macula, and iris trans-illumination. Read More

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The retinal pigmentation pathway in human albinism: Not so black and white.

Prog Retin Eye Res 2022 Jun 18:101091. Epub 2022 Jun 18.

Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; Emma Center for Personalized Medicine (ECPM), Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; Department of Ophthalmology, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, the Netherlands. Electronic address:

Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffer from severe visual abnormalities, including foveal hypoplasia and chiasmal misrouting. Combining our data with those of the literature, we propose a single functional genetic retinal signalling pathway that includes all 22 currently known human albinism disease genes. Read More

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Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis.

Fetal Pediatr Pathol 2022 May 24:1-4. Epub 2022 May 24.

Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

Introduction: Chediak-Higashi syndrome (CHS) is caused by dysfunction of lysosomal trafficking and presents with hypopigmentation, bleeding tendencies, neurological symptoms, and NK cell dysfunction. Hemophagocytic lymphohistiocytosis (HLH) can complicate CHS due to the abnormal function of NK cells.

Case Presentation: This 1. Read More

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Mechanisms behind the varying severity of Aleutian mink disease virus: Comparison of three farms with a different disease status.

Vet Microbiol 2022 Jul 12;270:109452. Epub 2022 May 12.

Department of Veterinary Biosciences, Faculty of Veterinary Medicine, University of Helsinki, Agnes Sjöbergin katu 2, 00790, Helsinki, Finland; Department of Virology, Faculty of Medicine, University of Helsinki, Haartmaninkatu 3, 00290 Helsinki, Finland.

Aleutian mink disease virus (AMDV) is distributed widely among mink farms and wild mustelids despite ongoing attempts to stop the spread. The severity of Aleutian disease (AD) varies from subclinical to fatal but the reasons for its varying severity are complex and unclear. Recently, breeding of tolerant mink has drawn attention as the possible solution to reduce the effects of AD in farms. Read More

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Oral manifestations of Chediak-Higashi syndrome: A systematic review.

Dis Mon 2022 Apr 9:101356. Epub 2022 Apr 9.

Department of Oral and Maxillofacial Pathology, School of Dentistry, Universidade de Pernambuco, Recife, Pernambuco, Brazil. Electronic address:

Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by leukocytes with giant secretory granules and a myriad of clinical features. However, it is unknown whether oral lesions are part of the syndrome or are refractory to systemic treatment. Herein, we integrated the available data published in the literature on the oral manifestations of individuals with CHS. Read More

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The yeast LYST homolog Bph1 is a Rab5 effector and prevents Atg8 lipidation at endosomes.

J Cell Sci 2022 04 28;135(8). Epub 2022 Apr 28.

Osnabrück University, Department of Biology/Chemistry, Biochemistry section, Barbarastrasse 13, 49076 Osnabrück, Germany.

Lysosomes mediate degradation of macromolecules to their precursors for cellular recycling. Additionally, lysosome-related organelles mediate cell type-specific functions. Chédiak-Higashi syndrome is an autosomal, recessive disease, in which loss of the protein LYST causes defects in lysosomes and lysosome-related organelles. Read More

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Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.

Int J Environ Res Public Health 2022 03 13;19(6). Epub 2022 Mar 13.

Department of Paediatric Dentistry, Medical University of Warsaw, Binieckiego 6 Street, 02-097 Warsaw, Poland.

Background: Premature loss of primary teeth can occur as a consequence of dental trauma, neonatal tooth extraction, early childhood caries, or periodontal problems, or it can be a manifestation of systemic disease. This review aims to present systemic disorders that can lead to premature loss of deciduous teeth in children and to provide a comprehensive resource for clinical practice for both physicians and dentists.

Methods: This study is a narrative review of original studies and case reports published in English and Polish between 1957 and 2021 that was conducted by searching electronic scientific resources: PubMed, Google Scholar, Web of Science, and Science Direct. Read More

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Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.

PLoS One 2022 3;17(3):e0254469. Epub 2022 Mar 3.

The Jackson Laboratory, Bar Harbor, ME, United States of America.

Chediak-Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement of lysosomes and lysosome-related organelles. Although recent studies have suggested that Lyst mutations impair the regulation of sizes of lysosome and lysosome-related organelle, the underlying pathogenic mechanism of Chediak-Higashi syndrome is still unclear. Here we show striking evidence that deficiency in LYST protein function leads to accumulation of photoreceptor outer segment phagosomes in retinal pigment epithelial cells, and reduces adhesion between photoreceptor outer segment and retinal pigment epithelial cells in a mouse model of Chediak-Higashi syndrome. Read More

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Clinical Reasoning: A 50-Year-Old Man With Progressive Limb Weakness and Slurred Speech.

Neurology 2022 04 10;98(14):592-596. Epub 2022 Feb 10.

From the Departments of Geriatric Neurology (N.X., H.X., Q.S.) and General Medicine (G.Y., W.Z.), Xiangya Hospital, Central South University; and the National Clinical Research Center for Geriatric Disorders (N.X., H.X., Q.S.), Changsha, China.

A 50-year-old man presented with a 9-month history of progressive left arm weakness and dysarthria. Family history showed that his parents are cousins, and one of his siblings died of motor neuron disease. Brain MRI showed T2-weighted white matter hyperintensities along the course of pyramidal tracts. Read More

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Treosulfan-Based Conditioning in Matched Family, Unrelated and Haploidentical Hematopoietic Stem Cell Transplantation for Genetic Hemophagocytic Lymphohistiocytosis: Experience and Outcomes over 10 Years from India.

Indian J Hematol Blood Transfus 2022 Jan 6;38(1):84-91. Epub 2021 Mar 6.

Department of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, 320, Padma Complex, Anna Salai, Teynampet, Chennai, 600035 India.

We aimed to analyze data in children with primary hemophagocytic lymphohistiocytosis (HLH) who underwent hematopoietic stem cell transplantation (HSCT). We performed a retrospective study where children up to 18 years, with primary HLH and who underwent HSCT from January 2011 to December 2019, were included. Twenty-five children with genetic HLH underwent HSCT, including variants (Griscelli syndrome (GS2) 7, Chediak-Higashi syndrome (CHS) 2, XIAP mutation 2). Read More

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January 2022

Chediak Higashi syndrome with acute kidney injury: Answers.

Pediatr Nephrol 2022 Jun 18;37(6):1317-1318. Epub 2022 Jan 18.

Army Hospital (R&R), Delhi Cantt, Delhi, India.

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Chediak Higashi syndrome with acute kidney injury: Questions.

Pediatr Nephrol 2022 Jun 18;37(6):1313-1315. Epub 2022 Jan 18.

Department of Pathology, Army Hospital R&R, New Delhi, India.

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Acute promyelocytic leukemia with Chediak-Higashi like giant granules.

Blood 2022 01;139(1):149

The University of Texas M.D. Anderson Cancer Center.

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January 2022

Ultrastructural investigation on pseudo Chediak-Higashi abnormality in acute lymphoblastic leukemia: A case report.

Pediatr Blood Cancer 2022 04 28;69(4):e29541. Epub 2021 Dec 28.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.

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Understanding neutropenia secondary to intrinsic or iatrogenic immune dysregulation.

Hematology Am Soc Hematol Educ Program 2021 12;2021(1):504-513

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN.

As a key member of the innate and adaptive immune response, neutrophils provide insights into the hematopoietic and inflammatory manifestations of inborn errors of immunity (IEI) and the consequences of immunotherapy. The facile recognition of IEI presenting with neutropenia provides an avenue for hematologists to facilitate early diagnosis and expedite biologically rationale care. Moreover, enhancing the understanding of the molecular mechanisms driving neutropenia in IEI-decreased bone marrow reserves, diminished egress from the bone marrow, and decreased survival-offers an opportunity to further dissect the pathophysiology driving neutropenia secondary to iatrogenic immune dysregulation, eg, immune checkpoint inhibitors and chimeric antigen receptor T-cell therapy. Read More

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December 2021

Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.

Appl Microsc 2021 Nov 29;51(1):18. Epub 2021 Nov 29.

Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.

Hair, having distinct stages of growth, is a dynamic component of the integumentary system. Nonetheless, derangement in its structure and growth pattern often provides vital clues for the diagnosis of systemic diseases. Assessment of the hair structure by various microscopy techniques is, hence, a valuable tool for the diagnosis of several systemic and cutaneous disorders. Read More

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November 2021

Oral Management of a Haematopoietic Stem Cell Transplant Recipient with Chédiak-Higashi Syndrome.

Case Rep Dent 2021 20;2021:9918199. Epub 2021 Sep 20.

Department of Oral and Maxillofacial Surgery, Department of Clinical Sciences, Medical Life Science, Mie University Graduate School of Medicine, Tsu, Mie 514-8507, Japan.

Chédiak-Higashi syndrome (CHS), a rare autosomal recessive disorder associated with leukocyte dysfunction, is characterised by partial skin and hair albinism, immunodeficiency, and abnormal bleeding. Furthermore, it may be associated with cognitive and neurological impairments. The long-term prognosis of patients is generally poor, and haematopoietic stem cell transplantation is a radical immunodeficiency treatment. Read More

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September 2021

AMDV Vaccine: Challenges and Perspectives.

Viruses 2021 09 14;13(9). Epub 2021 Sep 14.

Swine and Poultry Infectious Diseases Research Center (CRIPA), Research Group on Infectious Diseases of Production Animals (GREMIP), Faculty of Veterinary Medicine, University of Montreal, Saint-Hyacinthe, QC J2S 2M2, Canada.

Aleutian mink disease virus (AMDV) is known to cause the most significant disease in the mink industry. It is globally widespread and manifested as a deadly plasmacytosis and hyperglobulinemia. So far, measures to control the viral spread have been limited to manual serological testing for AMDV-positive mink. Read More

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September 2021

Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.

J Hum Genet 2022 Feb 6;67(2):119-121. Epub 2021 Sep 6.

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.

Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders characterized by weakness and leg spasticity. LYST is responsible for Chédiak-Higashi syndrome (CHS), which exhibits partial oculocutaneous albinism, primary immunodeficiency, and bleeding tendency in childhood. Although neurological symptoms of CHS also appear in adulthood, a phenotype of spastic paraplegia has rarely been reported in CHS. Read More

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February 2022

A doggy tale: Risk of zoonotic infection with Bordetella bronchiseptica for cystic fibrosis (CF) patients from live licenced bacterial veterinary vaccines for cats and dogs.

J Clin Pharm Ther 2022 Feb 30;47(2):139-145. Epub 2021 Jul 30.

Laboratory for Disinfection and Pathogen Elimination Studies, Northern Ireland Public Health Laboratory, Nightingale (Belfast City) Hospital, Belfast, UK.

What Is Known And Objective: Live-attenuated bacterial veterinary vaccines can constitute an infection risk for individuals with any defect in their phagocytic function, including chronic granulomatous disease, leukocyte adhesion deficiency, myeloperoxidase deficiency, as well as Chediak-Higashi syndrome, from accidental acquisition of licenced attenuated live bacterial vaccine, at vaccination or from their vaccinated pet. Ownership of small companion animals, including cats and dogs, is popular within the cystic fibrosis (CF) community. These animals require vaccines as part of their routine care, which may involve live viral and bacterial vaccines, with potential for infection in the CF owner. Read More

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February 2022

Genetic and phenotypic parameters for Aleutian disease tests and their correlations with pelt quality, reproductive performance, packed-cell volume, and harvest length in mink.

J Anim Sci 2021 Aug;99(8)

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

Aleutian disease (AD), caused by the Aleutian mink disease virus (AMDV), is a major health concern that results in global economic losses to the mink industry. The unsatisfactory outcome of the culling strategy, immunoprophylaxis, and medical treatment in controlling AD have urged mink farmers to select AD resilient mink based on several detection tests, including enzyme-linked immunosorbent assay (ELISA), counterimmunoelectrophoresis (CIEP), and iodine agglutination test (IAT). However, the genetic analysis of these AD tests and their correlations with pelt quality, reproductive performance, packed-cell volume (PCV), and harvest length (HL) have not been investigated. Read More

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Importance of Morphology in the Era of Molecular Biology: Lesson Learnt from a Case of Chediak-Higashi Syndrome.

Indian J Hematol Blood Transfus 2021 Jul 16;37(3):517-519. Epub 2021 Jan 16.

Paediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, ICMR Centre for Advanced Research in Primary Immunodeficiency Diseases, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, 160012 India.

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Generation and characterization of a human iPSC line SANi008-A from a Chédiak-Higashi Syndrome patient.

Stem Cell Res 2021 08 24;55:102442. Epub 2021 Jun 24.

Department of Hematopoiesis, Sanquin Research, Amsterdam, The Netherlands. Electronic address:

Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Chédiak-Higashi Syndrome (CHS), caused by mutations in LYST (c.4322_4325delAGAG and c.10127A>G). Read More

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The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Autophagy 2022 03 19;18(3):496-517. Epub 2021 Aug 19.

Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK.

Primary dysfunction of autophagy due to Mendelian defects affecting core components of the autophagy machinery or closely related proteins have recently emerged as an important cause of genetic disease. This novel group of human disorders may present throughout life and comprises severe early-onset neurodevelopmental and more common adult-onset neurodegenerative disorders. Early-onset (or congenital) disorders of autophagy often share a recognizable "clinical signature," including variable combinations of neurological, neuromuscular and multisystem manifestations. Read More

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

Int J Lab Hematol 2021 Dec 12;43(6):1443-1450. 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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December 2021

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

Pigment Cell Melanoma Res 2021 07 8;34(4):786-799. Epub 2021 May 8.

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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September 2021

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

Genes (Basel) 2021 03 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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