A síndrome de ChC)diak-Higashi (CHS) é uma doença genética rara e grave, geralmente caracterizada por albinismo oculocutâneo parcial (OCA), imunodeficiência grave, sangramento leve, disfunção neurológica e distúrbio linfoproliferativo. Foram descritas uma forma clássica de início precoce e uma forma atenuada de início tardio (CHS atípica).
Introdução
O que você precisa saber de cara
A síndrome de ChC)diak-Higashi (CHS) é uma doença genética rara e grave, geralmente caracterizada por albinismo oculocutâneo parcial (OCA), imunodeficiência grave, sangramento leve, disfunção neurológica e distúrbio linfoproliferativo. Foram descritas uma forma clássica de início precoce e uma forma atenuada de início tardio (CHS atípica).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 37 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 97 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Adapter protein that regulates and/or fission of intracellular vesicles such as lysosomes (PubMed:11984006, PubMed:25216107). Might regulate trafficking of effectors involved in exocytosis (PubMed:25425525). In cytotoxic T-cells and natural killer (NK) cells, has role in the regulation of size, number and exocytosis of lytic granules (PubMed:26478006). In macrophages and dendritic cells, regulates phagosome maturation by controlling the conversion of early phagosomal compartments into late phago
Cytoplasm
Chediak-Higashi syndrome
A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT).
Variantes genéticas (ClinVar)
488 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3,612 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Chediak-Higashi
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Analysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.
Clinical manifestations of Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder caused by LYST gene variants, include immunodeficiency and neurologic deficits. This study investigated the effects of defective LYST on neurodegenerative features by the morphological analysis of organelles in dopaminergic neurons differentiated from induced pluripotent stem cells (iPSCs) derived from CHS patients. iPSCs derived from CHS patients were analyzed by immunostaining with antibodies against microtubule-associated protein 2 and tyrosine hydroxylase, periodic acid-Schiff (PAS) staining, electron microscopy, and staining with a fluorescent probe to monitor autophagy. iPSC-derived neurons contained PAS-positive giant granules and lipofuscin-like granules. Electron microscopy revealed enlarged lysosomes with electron-dense granules and filament-like structures. The number and brightness of autophagosomes and autolysosomes were markedly increased in CHS iPSC-derived neurons under basal culture conditions. CHS iPSC-derived neuronal mitochondria were enlarged, polymorphic, and hypertrophic. CHS iPSC-derived neurons contained abnormal organelles, including lysosomes, autophagosomes, and mitochondria, which may be related to the neurodegenerative features of CHS.
Chediak-Higashi Syndrome Complicated by Mucormycosis.
BEACH domain-containing proteins: emerging roles in hematopoiesis and immune homeostasis.
BEACH-domain-containing proteins (BDCPs) are large scaffolding proteins that regulate vesicle trafficking, autophagy, and granule biogenesis. This review synthesizes recent mechanistic and clinical advances defining BDCP functions in hematopoietic stem and progenitor cell (HSPC) biology, immune regulation, and platelet function, highlighting relevance to human disease. Although BDCPs were initially linked to lineage-restricted hematopoietic disorders such as Chediak-Higashi syndrome and Gray platelet syndrome (GPS), emerging evidence demonstrates broader roles for BDCPs including NBEA, LRBA, LYST, and NBEAL2 in HSPC maintenance, receptor trafficking, and lineage specification. NBEA regulates NOTCH receptor turnover in HSPCs, linking vesicle dynamics to stem cell fate decisions. Recent studies provide mechanistic insights on how LRBA controls autophagy and CTLA-4 recycling, informing abatacept therapy; how NBEAL2 governs platelet α-granule biogenesis and immune homeostasis in GPS; and how LYST regulates lysosomal size and granule maturation in myeloid cells. Additionally, WDFY3, WDFY4, and WDR81 emerge as regulators of autophagy, antigen presentation, and inflammatory signaling. Collectively, BDCPs integrate vesicle trafficking, autophagy, and receptor homeostasis to coordinate hematopoietic development and immune function. Their dysfunction underlies immunological, hematologic, and inflammatory disorders, positioning BDCPs as promising translational targets.
Lessons from the American College of Allergy, Asthma and Immunology inborn errors of immunity survey: Advancing diagnostic and therapeutic strategies for the practicing allergist-immunologist.
Inborn errors of immunity (IEIs) have been increasingly well characterized on the molecular and genetic levels. Their clinical recognition and management among practicing allergist-immunologists remain challenging. To evaluate the consultative practices of allergist-immunologists in diagnosing and managing IEIs by identifying subtypes encountered, current approaches, multidisciplinary collaboration, barriers, and educational needs. The American College of Allergy, Asthma and Immunology distributed a 30-question web-based survey assessing IEI experience through SurveyMonkey to US-based members in a 4-week period during the spring of 2024. Most IEI consultations originated from outpatient primary care settings (82%), with 56% of respondents providing both outpatient and inpatient consultations. Frequently encountered IEIs included common variable immunodeficiency (100%), specific antibody deficiency (99%), selective IgA deficiency (97%), and C1 esterase inhibitor deficiency (90%). Less frequently encountered were Chediak-Higashi syndrome (40.5%) and type I interferonopathies (41%). The greatest need for subspecialty input was from hematology/oncology for quantitative phagocyte cell defects (89%) and autoimmune lymphoproliferative syndrome caused by a mutation in the FAS gene (74%). Severe combined immunodeficiency and defects of cytotoxicity (50%) most often required expert immunology consultation. The top educational priorities were genetic testing (61%) and gene therapy (60%). The major barriers were complexity and wide range of IEIs (39%) and low referral volume (36%). Comfort levels and need for knowledge varied significantly by practice type and clinician age. A major limitation of this study was the overrepresentation of academic practitioners. This American College of Allergy, Asthma and Immunology study provides insight into the current consultative practices and management of allergist-immunologists engaging in IEI care. These findings highlight the critical need for enhanced training, improved access to multidisciplinary support, and targeted continuing education to optimize care for patients with these complex disorders.
Skin lamellar bodies: a unique set of lysosome-related organelles.
Skin lamellar bodies (LBs) are crucial for forming and renewing the protective skin barrier, which regulates the body's internal environment and integrity. LB dysfunction is associated with severe disease conditions such as atopic dermatitis, Netherton syndrome and Harlequin ichthyosis, among others. Despite its importance in human physiology, the intracellular origin and biogenesis mechanism of LBs remain largely unknown. LBs are lysosome-related organelles (LRO), a group of cell type-specific organelles having unique structures, cargo content, and function. Classical LROs such as melanosomes, lung lamellar bodies and Weibel-Palade bodies share overlapped molecular machinery/mechanisms and are co-affected in genetic disorders like Hermansky-Pudlak syndrome (HPS) or Chédiak-Higashi syndrome (CHS). In contrast, LBs contain a diverse array of protein and lipid cargo that are notably different from those found in other LROs, and LBs are not reported to be affected in HPS/CHS. LBs form in an advanced differentiation state of keratinocytes while cells are experiencing high ions and low nutrients in their exterior, the plasma membrane (PM) undergoing modifications, and intracellular organelles starting to disappear. This article discusses atypical conditions of LB biogenesis in comparison to classical LROs, which may potentially guide future research on LB biogenesis.
Publicações recentes
BEACH domain-containing proteins: emerging roles in hematopoiesis and immune homeostasis.
Analysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.
Albinism: from genetics to cell biology and physiopathology.
Chediak-Higashi Syndrome Complicated by Mucormycosis.
Fatal Chronic Varicella-Zoster Viral Infection in a Young Man With Chediak-Higashi Syndrome.
📚 EuropePMC567 artigos no totalmostrando 183
BEACH domain-containing proteins: emerging roles in hematopoiesis and immune homeostasis.
Current opinion in hematologyAnalysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.
Pediatrics international : official journal of the Japan Pediatric SocietyAlbinism: from genetics to cell biology and physiopathology.
Presse medicale (Paris, France : 1983)Chediak-Higashi Syndrome Complicated by Mucormycosis.
Indian journal of pediatricsFatal Chronic Varicella-Zoster Viral Infection in a Young Man With Chediak-Higashi Syndrome.
Pediatric dermatologyGriscelli Syndrome Type 2 Revealed by Macrophage Activation Syndrome: Two Cases From the Same Family.
CureusLessons from the American College of Allergy, Asthma and Immunology inborn errors of immunity survey: Advancing diagnostic and therapeutic strategies for the practicing allergist-immunologist.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyPeriodontal Manifestations of Systemic Diseases.
Journal of periodontal researchSystemic Lupus Erythematosus in a Patient with Chediak-Higashi Syndrome.
Indian journal of pediatricsContribution of Cytology to the Diagnosis of Chediak-Higashi Syndrome.
CureusGriscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism.
CureusChediak Higashi Syndrome Under the Microscope.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionA murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.
Communications biologyMasquerading as lymphoma: the accelerated phase of Chediak-Higashi syndrome and its novel mutation.
Journal of applied geneticsSkin lamellar bodies: a unique set of lysosome-related organelles.
Frontiers in cell and developmental biologyStrabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters.
NeurogeneticsComprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.
BMC medical genomicsRare Auer Rods in Vacuole-Like Inclusions in Acute Promyelocytic Leukemia.
Turkish journal of haematology : official journal of Turkish Society of HaematologyEffect of genetic mutations on outcomes of stem cell transplantation in children with hemophagocytic lymphohistiocytosis.
Bone marrow transplantationChediak-Higashi Syndrome: a Comprehensive Case Report and Literature Review.
Clinical laboratoryThrombolysis for superior vena cava syndrome post bone marrow transplant: a paediatric experience.
BMJ case reportsGenetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.
Annals of hematologyVEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Cellular & molecular biology lettersNovel LYST Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome.
GenesRole of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.
CureusSuccessful hematopoietic cell transplantation utilizing myeloablative reduced-toxicity conditioning in Chediak-Higashi syndrome.
The Journal of allergy and clinical immunologyChedíak-Higashi Syndrome: Hair-to-toe spectrum.
Seminars in pediatric neurologyHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - A PRESENTATION OF ACCELERATED PHASE OF CHEDIAK HIGASHI SYNDROME; CASE REPORT AND CLINICOPATHOLOGICAL REVIEW.
Journal of Ayub Medical College, Abbottabad : JAMCEarly diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyFacial cutaneous pigmentation pattern helps differentiate between Griscelli syndrome and Chediak-Higashi syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyA girl with a novel nonsense mutation in Chediak-Higashi syndrome was relieved successfully by treatment with HCST and UCBT: a case report.
Annals of hematologySilver hair in a neonate: a tale of 2 fatal cases.
Oxford medical case reportsPseudo-Chédiak-Higashi inclusions in a low-grade lymphoid neoplasm.
BloodLarge lysosomes in Chédiak-Higashi syndrome.
Kidney internationalAccelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection.
Blood cells, molecules & diseasesAlbinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome.
CureusDetection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report.
Advances in laboratory medicineA case report of a Chediak-Higashi syndrome diagnosed by peripheral blood smear.
International journal of laboratory hematologyThe lysosomal trafficking regulator "LYST": an 80-year traffic jam.
Frontiers in immunologyFirst reported co-occurrence of Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia with pseudo Chediak-Higashi anomaly and complex karyotype.
Clinical chemistry and laboratory medicineAcute lymphoblastic leukemia with pseudo-Chediak-Higashi granules in the initial diagnosis and relapse.
International journal of laboratory hematologyMixed chimerism post allogeneic stem cell transplant for Chediak-Higashi syndrome-Clues from morphology and blood banking.
British journal of haematologyLysosomal trafficking regulator restricts intracellular growth of Coxiella burnetii by inhibiting the expansion of Coxiella-containing vacuole and upregulating nos2 expression.
Frontiers in cellular and infection microbiologyManagement of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor (G-CSF): A Case Report.
CureusThe impact of the COVID-19 pandemic on early termination of ophthalmology clinical trials: A cross-sectional analysis of ClinicalTrials.gov.
SAGE open medicinePseudo-Chédiak-Higashi anomaly in acute myeloid leukemia.
American journal of hematologySpectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Journal of medical geneticsDiagnostic peripheral blood smear for Chédiak-Higashi syndrome in a 43-month-old boy, confirmed by sequencing.
BloodSlivers of Hair - A Clue to Uncover Silver Hair Syndromes.
International journal of trichologyGriscelli Syndrome in Skin of Color: A Trichoscopic Perspective.
Indian journal of dermatologyChediak-Higashi syndrome.
Current opinion in hematologyThe Tetrahymena bcd1 mutant implicates endosome trafficking in ciliate, cortical pattern formation.
Molecular biology of the cellRare Pseudo-Chediak-Higashi Inclusions in Therapy-Related Acute Myeloid Leukemia with Myelodysplasia-Related Changes.
Clinical laboratorySuccessful use of emapalumab in refractory hemophagocytic lymphohistiocytosis in a child with Chédiak-Higashi syndrome: a case report.
Journal of medical case reportscDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Frontiers in geneticsLYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
Cellular and molecular life sciences : CMLSInvestigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.
Ophthalmology science[Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsiPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells.
Pediatrics international : official journal of the Japan Pediatric SocietyChediak Higashi syndrome with pancytopenia: a rare presentation of a rare disease and the role of hair shaft microscopy in the diagnosis.
Annals of hematologyCase series on Silvery Hair Syndromes: Single Center Experience.
Indian journal of dermatologyEffect of vitamin C supplementation on some leukocyte parameters in American mink (Neovison vison) with abnormal granulogenesis.
Tissue & cellClinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
GenesThe retinal pigmentation pathway in human albinism: Not so black and white.
Progress in retinal and eye researchChediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis.
Fetal and pediatric pathologyPseudo-Chediak-Higashi Granules in a Case of Acute Lymphoblastic Leukemia Mimicking Acute Myeloid Leukemia.
Turkish journal of haematology : official journal of Turkish Society of HaematologyOral manifestations of Chediak-Higashi syndrome: A systematic review.
Disease-a-month : DMThe yeast LYST homolog Bph1 is a Rab5 effector and prevents Atg8 lipidation at endosomes.
Journal of cell sciencePremature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.
International journal of environmental research and public healthDeficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.
PloS oneClinical Reasoning: A 50-Year-Old Man With Progressive Limb Weakness and Slurred Speech.
NeurologyTreosulfan-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 journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionChediak Higashi syndrome with acute kidney injury: Answers.
Pediatric nephrology (Berlin, Germany)Chediak Higashi syndrome with acute kidney injury: Questions.
Pediatric nephrology (Berlin, Germany)Acute promyelocytic leukemia with Chediak-Higashi like giant granules.
BloodUltrastructural investigation on pseudo Chediak-Higashi abnormality in acute lymphoblastic leukemia: A case report.
Pediatric blood & cancerUnderstanding neutropenia secondary to intrinsic or iatrogenic immune dysregulation.
Hematology. American Society of Hematology. Education ProgramHair microscopy: an easy adjunct to diagnosis of systemic diseases in children.
Applied microscopyOral Management of a Haematopoietic Stem Cell Transplant Recipient with Chédiak-Higashi Syndrome.
Case reports in dentistryChédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.
Journal of human geneticsA doggy tale: Risk of zoonotic infection with Bordetella bronchiseptica for cystic fibrosis (CF) patients from live licenced bacterial veterinary vaccines for cats and dogs.
Journal of clinical pharmacy and therapeuticsImportance of Morphology in the Era of Molecular Biology: Lesson Learnt from a Case of Chediak-Higashi Syndrome.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionGeneration and characterization of a human iPSC line SANi008-A from a Chédiak-Higashi Syndrome patient.
Stem cell researchPrimary haemophagocytic lymphohistiocytosis (Chédiak-Higashi Syndrome) triggered by acute SARS-CoV-2 infection in a six-week-old infant.
British journal of haematologyThe spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
AutophagyGenetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.
Pigment cell & melanoma researchCase Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.
Frontiers in immunologyProspective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
GenesRelapsed RUNX1-RUNX1T1-positive acute myeloid leukemia with pseudo-Chediak-Higashi granules.
International journal of hematologyMauve/LYST limits fusion of lysosome-related organelles and promotes centrosomal recruitment of microtubule nucleating proteins.
Developmental cellImages from the Haematologica atlas of hematologic cytology: Chediak-Higashi syndrome.
HaematologicaPrimary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.
Allergologia et immunopathologia[Chediak Higashi syndrome with cytotoxic T-cell lymphoma: a case report].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiChediak-Higashi syndrome: a review of the past, present, and future.
Drug discovery today. Disease modelsChediak-Higashi Syndrome With Epstein-Barr Virus Triggered Hemophagocytic Lymphohistiocytosis: A Case Report.
CureusChediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood after bone marrow transplantation.
NeurocaseHaploidentical Stem Cell Transplant With Post-transplant Cyclophosphamide for Chediak-Higashi Syndrome: A Very Rare Case Report.
Journal of pediatric hematology/oncologyMelanosome transport and regulation in development and disease.
Pharmacology & therapeuticsAA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review.
The journal of allergy and clinical immunology. In practiceDiagnosis of Chediak Higashi disease in a 67-year old woman.
American journal of medical genetics. Part ATREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
Clinical and experimental immunologyGeneration and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines.
Stem cell researchHemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.
Journal of pediatric hematology/oncologyChédiak-Higashi syndrome approached by several different microscopy imaging technologies.
British journal of haematology[Identification of a novel CHS1/LYST variant in a Chinese pedigree affected with Chediak-Higashi syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNovel MRI Finding of Bilateral Globus Pallidal Involvement in Accelerated Phase of Chédiak -Higashi Syndrome.
Annals of Indian Academy of NeurologyAssisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST.
Scientific reportsIdentification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.
BMC medical genetics[A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsConcentric Macular Rings Sign in Chediak-Higashi Syndrome.
OphthalmologyNeutrophil Defects and Diagnosis Disorders of Neutrophil Function: An Overview.
Methods in molecular biology (Clifton, N.J.)Chediak-Higashi syndrome: Lessons from a single-centre case series.
Allergologia et immunopathologiaNeutrophil phenotypes in chronic lung disease.
Expert review of respiratory medicineDetailed hair shaft analysis in a man with delayed-onset Chediak-Higashi syndrome.
The British journal of dermatologyAssociation of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome.
Indian pediatricsNovel gene mutations in Chédiak-Higashi syndrome with hyperpigmentation.
The Journal of dermatologyThe neuropsychological phenotype of Chediak-Higashi disease.
Orphanet journal of rare diseasesMouse models and strain-dependency of Chédiak-Higashi syndrome-associated neurologic dysfunction.
Scientific reportsThe road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.
Traffic (Copenhagen, Denmark)Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.
Medicina (Kaunas, Lithuania)Silvery Gray Hair: A Clue to Diagnosing Chédiak-Higashi Syndrome.
The Journal of pediatricsGenetic analysis in Egyptian patients with Chediak-Higashi syndrome reveals new LYST mutations.
Clinical and experimental dermatologyHaploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immune Deficiency Disorders in Children: Challenges and Outcome from a Tertiary Care Center in South India.
Journal of clinical immunologyMorphological and functional analysis of beige (Chèdiak-Higashi syndrome) mouse mast cells with giant granules.
International immunopharmacologyUsefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.
Pediatric dermatologyAcute Transient Sixth Nerve Palsy in Chediak-Higashi Syndrome.
Journal of pediatric ophthalmology and strabismus[Rare diseases recognizable from blood smears].
Der Internist[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsChediak-Higashi Syndrome in Accelerated Phase.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionA lysosome targetable versatile fluorescent probe for imaging viscosity and peroxynitrite with different fluorescence signals in living cells.
Journal of materials chemistry. BPeriodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response.
JDR clinical and translational researchAn actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.
The Journal of allergy and clinical immunology[Umbilical cord blood transplantation in the treatment of Chediak-Higashi syndrome with hemophagocytic syndrome: a case report and literature review].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiUltrastructural aspects of hairs of Chediak-Higashi syndrome.
Journal of the European Academy of Dermatology and Venereology : JEADVRare inclusion bodies within monocytes at accelerated phase of Chediak-Higashi syndrome.
Clinical chemistry and laboratory medicineHermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
Pediatric dermatologyYpt4 and lvs1 regulate vacuolar size and function in Schizosaccharomyces pombe.
Cellular logisticsA case of Chediak-Higashi syndrome presented with accelerated phase could be treated effectively by unrelated cord blood transplantation.
Pediatric transplantationLight Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.
International journal of trichology[Clinical and genetic aspects of albinism].
Presse medicale (Paris, France : 1983)Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.
Frontiers in immunologyOral mass revealing Chédiak-Higashi syndrome.
International journal of oral and maxillofacial surgeryHematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.
Turkish journal of haematology : official journal of Turkish Society of HaematologyGriscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature.
Intractable & rare diseases researchA novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicasLiving-Donor Lung Transplantation After Bone Marrow Transplantation for Chediak-Higashi Syndrome.
The Annals of thoracic surgeryChédiak-Higashi syndrome with novel gene mutation.
BMJ case reportsWhole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
Scientific reportsPseudo Chediak-Higashi anomaly in acute monoblastic leukemia.
BloodLysosomal trafficking regulator Lyst links membrane trafficking to toll-like receptor-mediated inflammatory responses.
The Journal of experimental medicineNK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2.
Immunology lettersPseudo-Chédiak-Higashi granules and other unusual cytoplasmic inclusions in refractory anaemia with excess blasts-2.
British journal of haematologyInflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.
Muscle & nerveOral rehabilitation of patients with Chediak-Higashi syndrome using zygoma and root form implant-supported fixed prostheses: A report of two patients.
The Journal of prosthetic dentistryPeripheral nervous system manifestations of Chediak-Higashi disease.
Muscle & nerveSpontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.
CutisChediak-Higashi Syndrome in Accelerated Phase Masquerading as Acute Leukemia.
Turkish journal of haematology : official journal of Turkish Society of HaematologyCover Image: A dashed hair.
The British journal of dermatologySevere anemia due to parvovirus B19 in a silver haired boy.
Indian journal of pathology & microbiologyNeurologic involvement in patients with atypical Chediak-Higashi disease.
NeurologyConcordance of visual and structural features between siblings with albinism.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus[MORPHOLOGICAL FEATURES OF NEUTROPHILS AND EOSINOPHILS GRANULES IN SAPPHIRE MINKS].
TsitologiiaAccelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder.
Journal of clinical and diagnostic research : JCDRSilvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.
International journal of trichologyPremature loss of primary teeth with gingival erythema: An alert to dentist.
Journal of oral and maxillofacial pathology : JOMFPChediak-Higashi Syndrome: A Case Series from Karnataka, India.
Indian journal of dermatology[Differential diagnostics of hypomelanoses].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteAllogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome.
Pediatric transplantationA clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
International journal of dermatologyChediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.
The Journal of allergy and clinical immunologyLysosomal Trafficking Regulator (LYST).
Advances in experimental medicine and biologyOptic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.
The British journal of ophthalmologyChediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.
Hematology/oncology and stem cell therapyNeutrophil functional disorder in childhood.
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)[Chediak-Higashi syndrome: Optical microscopy of hair].
Anales de pediatria (Barcelona, Spain : 2003)A severe systemic presentation of pigmented villonodular synovitis in a child with underlying Chediak-Higashi syndrome.
Journal of pediatric orthopedics. Part BRecurrent childhood PRES.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyChédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.
Pediatric radiologySeizure as the presenting manifestation in Griscelli syndrome type 2.
Pediatric neurologySuccessful stem cell transplantation in Chediak-Higashi syndrome.
The journal of allergy and clinical immunology. In practicePeripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.
Journal of the peripheral nervous system : JPNSParkinsonism and Other Movement Disorders Associated with Chediak-Higashi Syndrome: Case Report and Systematic Literature Review.
Movement disorders clinical practiceInfantile hemophagocytic lymphohistiocytosis in a case of chediak-higashi syndrome caused by a mutation in the LYST/CHS1 gene presenting with delayed umbilical cord detachment and diarrhea.
Journal of pediatric hematology/oncologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Analysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.Pediatrics international : official journal of the Japan Pediatric Society· 2026· PMID 41703749mais citado
- Chediak-Higashi Syndrome Complicated by Mucormycosis.
- BEACH domain-containing proteins: emerging roles in hematopoiesis and immune homeostasis.
- Lessons from the American College of Allergy, Asthma and Immunology inborn errors of immunity survey: Advancing diagnostic and therapeutic strategies for the practicing allergist-immunologist.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology· 2026· PMID 41057108mais citado
- Skin lamellar bodies: a unique set of lysosome-related organelles.
- Albinism: from genetics to cell biology and physiopathology.
- Fatal Chronic Varicella-Zoster Viral Infection in a Young Man With Chediak-Higashi Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:167(Orphanet)
- OMIM OMIM:214500(OMIM)
- MONDO:0008963(MONDO)
- GARD:6035(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q934034(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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