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Síndrome Chediak-Higashi
ORPHA:167CID-10 · E70.3CID-11 · EC23.20OMIM 214500DOENÇA RARA

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).

Mantido por Agente Raras·Colaborar como especialista →

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).

Publicações científicas
904 artigos
Último publicado: 2026 Mar 17

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
500
pacientes catalogados
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: E70.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (6)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202080013
Teste do pezinho (triagem neonatal)
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
14 sintomas
🩸
Sangue
12 sintomas
👁️
Olhos
9 sintomas
🧬
Pele e cabelo
7 sintomas
🛡️
Imunológico
6 sintomas
🫃
Digestivo
5 sintomas

+ 37 sintomas em outras categorias

Características mais comuns

100%prev.
Grânulos neutrofílicos gigantes
Frequência: 11/11
100%prev.
Cabelo prateado-acinzentado
Frequência: 4/4
100%prev.
Hipopigmentação da pele
Muito frequente (99-80%)
100%prev.
Anemia
Ocasional (29-5%)
100%prev.
Hipopigmentação do cabelo
Frequente (79-30%)
90%prev.
Morfologia anormal de leucócitos
Muito frequente (99-80%)
97sintomas
Muito frequente (13)
Frequente (25)
Ocasional (44)
Muito raro (1)
Sem dados (14)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 97 características clínicas mais associadas, ordenadas por frequência.

Grânulos neutrofílicos gigantesGiant neutrophil granules
Frequência: 11/11100%
Cabelo prateado-acinzentadoSilver-gray hair
Frequência: 4/4100%
Hipopigmentação da peleHypopigmentation of the skin
Muito frequente (99-80%)100%
Anemia
Ocasional (29-5%)100%
Hipopigmentação do cabeloHypopigmentation of hair
Frequente (79-30%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico904PubMed
Últimos 10 anos187publicações
Pico202220 papers
Linha do tempo
2026Hoje · 2026📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

LYSTLysosomal-trafficking regulatorDisease-causing germline mutation(s) (loss of function) inRestrito
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (3)
RUNX2 regulates osteoblast differentiationFormation of the anterior neural plateFormation of the posterior neural plate
MECANISMO DE DOENÇA

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).

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
14.6 TPM
Cerebelo
14.6 TPM
Nervo tibial
12.8 TPM
Tecido adiposo
12.7 TPM
Skin Not Sun Exposed Suprapubic
12.2 TPM
OUTRAS DOENÇAS (2)
Chediak-Higashi syndromeattenuated Chédiak-Higashi syndrome
HGNC:1968UniProt:Q99698

Variantes genéticas (ClinVar)

488 variantes patogênicas registradas no ClinVar.

🧬 LYST: NM_000081.4(LYST):c.2467_2468del (p.Leu823fs) ()
🧬 LYST: NM_000081.4(LYST):c.9236G>A (p.Trp3079Ter) ()
🧬 LYST: NM_000081.4(LYST):c.590_591dup (p.Gln198fs) ()
🧬 LYST: NM_000081.4(LYST):c.3149C>A (p.Ser1050Ter) ()
🧬 LYST: NM_000081.4(LYST):c.8201G>A (p.Trp2734Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 3,612 variantes classificadas pelo ClinVar.

181
1264
2167
Patogênica (5.0%)
VUS (35.0%)
Benigna (60.0%)
VARIANTES MAIS SIGNIFICATIVAS
LYST: NM_000081.4(LYST):c.2467_2468del (p.Leu823fs) [Pathogenic]
LYST: NM_000081.4(LYST):c.6333TTC[1] (p.Ser2113del) [Uncertain significance]
LYST: NM_000081.4(LYST):c.2538G>C (p.Gln846His) [Uncertain significance]
LYST: NM_000081.4(LYST):c.2273A>G (p.Gln758Arg) [Uncertain significance]
LYST: NM_000081.4(LYST):c.1961T>C (p.Leu654Pro) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Chediak-Higashi

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
170 papers (10 anos)
#1

Analysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.

Pediatrics international : official journal of the Japan Pediatric Society2026

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.

#2

Chediak-Higashi Syndrome Complicated by Mucormycosis.

Indian journal of pediatrics2026 Jan
#3

BEACH domain-containing proteins: emerging roles in hematopoiesis and immune homeostasis.

Current opinion in hematology2026 Mar 17

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.

#4

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 &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology2026 Feb

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.

#5

Skin lamellar bodies: a unique set of lysosome-related organelles.

Frontiers in cell and developmental biology2025

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

Ver todas no PubMed

📚 EuropePMC567 artigos no totalmostrando 183

2026

BEACH domain-containing proteins: emerging roles in hematopoiesis and immune homeostasis.

Current opinion in hematology
2026

Analysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.

Pediatrics international : official journal of the Japan Pediatric Society
2025

Albinism: from genetics to cell biology and physiopathology.

Presse medicale (Paris, France : 1983)
2026

Chediak-Higashi Syndrome Complicated by Mucormycosis.

Indian journal of pediatrics
2025

Fatal Chronic Varicella-Zoster Viral Infection in a Young Man With Chediak-Higashi Syndrome.

Pediatric dermatology
2025

Griscelli Syndrome Type 2 Revealed by Macrophage Activation Syndrome: Two Cases From the Same Family.

Cureus
2026

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 &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2025

Periodontal Manifestations of Systemic Diseases.

Journal of periodontal research
2025

Systemic Lupus Erythematosus in a Patient with Chediak-Higashi Syndrome.

Indian journal of pediatrics
2025

Contribution of Cytology to the Diagnosis of Chediak-Higashi Syndrome.

Cureus
2025

Griscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism.

Cureus
2025

Chediak Higashi Syndrome Under the Microscope.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2025

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

Communications biology
2025

Masquerading as lymphoma: the accelerated phase of Chediak-Higashi syndrome and its novel mutation.

Journal of applied genetics
2025

Skin lamellar bodies: a unique set of lysosome-related organelles.

Frontiers in cell and developmental biology
2025

Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters.

Neurogenetics
2025

Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.

BMC medical genomics
2025

Rare Auer Rods in Vacuole-Like Inclusions in Acute Promyelocytic Leukemia.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2025

Effect of genetic mutations on outcomes of stem cell transplantation in children with hemophagocytic lymphohistiocytosis.

Bone marrow transplantation
2025

Chediak-Higashi Syndrome: a Comprehensive Case Report and Literature Review.

Clinical laboratory
2025

Thrombolysis for superior vena cava syndrome post bone marrow transplant: a paediatric experience.

BMJ case reports
2025

Genetic 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 hematology
2025

VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?

Cellular &amp; molecular biology letters
2024

Novel LYST Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome.

Genes
2024

Role of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.

Cureus
2025

Successful hematopoietic cell transplantation utilizing myeloablative reduced-toxicity conditioning in Chediak-Higashi syndrome.

The Journal of allergy and clinical immunology
2024

Chedíak-Higashi Syndrome: Hair-to-toe spectrum.

Seminars in pediatric neurology
2024

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - A PRESENTATION OF ACCELERATED PHASE OF CHEDIAK HIGASHI SYNDROME; CASE REPORT AND CLINICOPATHOLOGICAL REVIEW.

Journal of Ayub Medical College, Abbottabad : JAMC
2024

Early 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 Immunology
2024

Facial cutaneous pigmentation pattern helps differentiate between Griscelli syndrome and Chediak-Higashi syndrome.

Pediatrics international : official journal of the Japan Pediatric Society
2024

A girl with a novel nonsense mutation in Chediak-Higashi syndrome was relieved successfully by treatment with HCST and UCBT: a case report.

Annals of hematology
2024

Silver hair in a neonate: a tale of 2 fatal cases.

Oxford medical case reports
2024

Pseudo-Chédiak-Higashi inclusions in a low-grade lymphoid neoplasm.

Blood
2024

Large lysosomes in Chédiak-Higashi syndrome.

Kidney international
2024

Accelerated 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 &amp; diseases
2024

Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome.

Cureus
2024

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report.

Advances in laboratory medicine
2024

A case report of a Chediak-Higashi syndrome diagnosed by peripheral blood smear.

International journal of laboratory hematology
2024

The lysosomal trafficking regulator "LYST": an 80-year traffic jam.

Frontiers in immunology
2024

First reported co-occurrence of Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia with pseudo Chediak-Higashi anomaly and complex karyotype.

Clinical chemistry and laboratory medicine
2024

Acute lymphoblastic leukemia with pseudo-Chediak-Higashi granules in the initial diagnosis and relapse.

International journal of laboratory hematology
2024

Mixed chimerism post allogeneic stem cell transplant for Chediak-Higashi syndrome-Clues from morphology and blood banking.

British journal of haematology
2023

Lysosomal 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 microbiology
2023

Management of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor (G-CSF): A Case Report.

Cureus
2023

The impact of the COVID-19 pandemic on early termination of ophthalmology clinical trials: A cross-sectional analysis of ClinicalTrials.gov.

SAGE open medicine
2024

Pseudo-Chédiak-Higashi anomaly in acute myeloid leukemia.

American journal of hematology
2024

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Journal of medical genetics
2023

Diagnostic peripheral blood smear for Chédiak-Higashi syndrome in a 43-month-old boy, confirmed by sequencing.

Blood
2023

Slivers of Hair - A Clue to Uncover Silver Hair Syndromes.

International journal of trichology
2023

Griscelli Syndrome in Skin of Color: A Trichoscopic Perspective.

Indian journal of dermatology
2023

Chediak-Higashi syndrome.

Current opinion in hematology
2023

The Tetrahymena bcd1 mutant implicates endosome trafficking in ciliate, cortical pattern formation.

Molecular biology of the cell
2023

Rare Pseudo-Chediak-Higashi Inclusions in Therapy-Related Acute Myeloid Leukemia with Myelodysplasia-Related Changes.

Clinical laboratory
2023

Successful use of emapalumab in refractory hemophagocytic lymphohistiocytosis in a child with Chédiak-Higashi syndrome: a case report.

Journal of medical case reports
2023

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.

Frontiers in genetics
2023

LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.

Cellular and molecular life sciences : CMLS
2023

Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.

Ophthalmology science
2022

[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 genetics
2022

iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells.

Pediatrics international : official journal of the Japan Pediatric Society
2022

Chediak Higashi syndrome with pancytopenia: a rare presentation of a rare disease and the role of hair shaft microscopy in the diagnosis.

Annals of hematology
2022

Case series on Silvery Hair Syndromes: Single Center Experience.

Indian journal of dermatology
2022

Effect of vitamin C supplementation on some leukocyte parameters in American mink (Neovison vison) with abnormal granulogenesis.

Tissue &amp; cell
2022

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

Genes
2022

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

Progress in retinal and eye research
2023

Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis.

Fetal and pediatric pathology
2022

Pseudo-Chediak-Higashi Granules in a Case of Acute Lymphoblastic Leukemia Mimicking Acute Myeloid Leukemia.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2023

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

Disease-a-month : DM
2022

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

Journal of cell science
2022

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

International journal of environmental research and public health
2022

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

PloS one
2022

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

Neurology
2022

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 journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2022

Chediak Higashi syndrome with acute kidney injury: Answers.

Pediatric nephrology (Berlin, Germany)
2022

Chediak Higashi syndrome with acute kidney injury: Questions.

Pediatric nephrology (Berlin, Germany)
2022

Acute promyelocytic leukemia with Chediak-Higashi like giant granules.

Blood
2022

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

Pediatric blood &amp; cancer
2021

Understanding neutropenia secondary to intrinsic or iatrogenic immune dysregulation.

Hematology. American Society of Hematology. Education Program
2021

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

Applied microscopy
2021

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

Case reports in dentistry
2022

Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.

Journal of human genetics
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.

Journal of clinical pharmacy and therapeutics
2021

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

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2021

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

Stem cell research
2021

Primary haemophagocytic lymphohistiocytosis (Chédiak-Higashi Syndrome) triggered by acute SARS-CoV-2 infection in a six-week-old infant.

British journal of haematology
2022

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

Autophagy
2021

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

Pigment cell &amp; melanoma research
2021

Case 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 immunology
2021

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

Genes
2021

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

International journal of hematology
2021

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

Developmental cell
2021

Images from the Haematologica atlas of hematologic cytology: Chediak-Higashi syndrome.

Haematologica
2021

Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.

Allergologia et immunopathologia
2020

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

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2020

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

Drug discovery today. Disease models
2020

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

Cureus
2021

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

Neurocase
2021

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

Journal of pediatric hematology/oncology
2021

Melanosome transport and regulation in development and disease.

Pharmacology &amp; therapeutics
2021

AA 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 practice
2020

Diagnosis of Chediak Higashi disease in a 67-year old woman.

American journal of medical genetics. Part A
2020

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

Clinical and experimental immunology
2020

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

Stem cell research
2020

Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.

Journal of pediatric hematology/oncology
2020

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

British journal of haematology
2020

[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 genetics
2020

Novel MRI Finding of Bilateral Globus Pallidal Involvement in Accelerated Phase of Chédiak -Higashi Syndrome.

Annals of Indian Academy of Neurology
2020

Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST.

Scientific reports
2020

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.

BMC medical genetics
2019

[A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2019

Concentric Macular Rings Sign in Chediak-Higashi Syndrome.

Ophthalmology
2020

Neutrophil Defects and Diagnosis Disorders of Neutrophil Function: An Overview.

Methods in molecular biology (Clifton, N.J.)
2019

Chediak-Higashi syndrome: Lessons from a single-centre case series.

Allergologia et immunopathologia
2019

Neutrophil phenotypes in chronic lung disease.

Expert review of respiratory medicine
2020

Detailed hair shaft analysis in a man with delayed-onset Chediak-Higashi syndrome.

The British journal of dermatology
2019

Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome.

Indian pediatrics
2019

Novel gene mutations in Chédiak-Higashi syndrome with hyperpigmentation.

The Journal of dermatology
2019

The neuropsychological phenotype of Chediak-Higashi disease.

Orphanet journal of rare diseases
2019

Mouse models and strain-dependency of Chédiak-Higashi syndrome-associated neurologic dysfunction.

Scientific reports
2019

The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

Traffic (Copenhagen, Denmark)
2019

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.

Medicina (Kaunas, Lithuania)
2019

Silvery Gray Hair: A Clue to Diagnosing Chédiak-Higashi Syndrome.

The Journal of pediatrics
2019

Genetic analysis in Egyptian patients with Chediak-Higashi syndrome reveals new LYST mutations.

Clinical and experimental dermatology
2019

Haploidentical 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 immunology
2019

Morphological and functional analysis of beige (Chèdiak-Higashi syndrome) mouse mast cells with giant granules.

International immunopharmacology
2018

Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

Pediatric dermatology
2018

Acute Transient Sixth Nerve Palsy in Chediak-Higashi Syndrome.

Journal of pediatric ophthalmology and strabismus
2018

[Rare diseases recognizable from blood smears].

Der Internist
2018

[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 genetics
2018

Chediak-Higashi Syndrome in Accelerated Phase.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2018

A lysosome targetable versatile fluorescent probe for imaging viscosity and peroxynitrite with different fluorescence signals in living cells.

Journal of materials chemistry. B
2018

Periodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response.

JDR clinical and translational research
2018

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.

The Journal of allergy and clinical immunology
2017

[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 zazhi
2018

Ultrastructural aspects of hairs of Chediak-Higashi syndrome.

Journal of the European Academy of Dermatology and Venereology : JEADV
2018

Rare inclusion bodies within monocytes at accelerated phase of Chediak-Higashi syndrome.

Clinical chemistry and laboratory medicine
2017

Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.

Pediatric dermatology
2017

Ypt4 and lvs1 regulate vacuolar size and function in Schizosaccharomyces pombe.

Cellular logistics
2017

A case of Chediak-Higashi syndrome presented with accelerated phase could be treated effectively by unrelated cord blood transplantation.

Pediatric transplantation
2017

Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.

International journal of trichology
2017

[Clinical and genetic aspects of albinism].

Presse medicale (Paris, France : 1983)
2017

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Frontiers in immunology
2017

Oral mass revealing Chédiak-Higashi syndrome.

International journal of oral and maxillofacial surgery
2017

Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2017

Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature.

Intractable &amp; rare diseases research
2017

A 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 biologicas
2017

Living-Donor Lung Transplantation After Bone Marrow Transplantation for Chediak-Higashi Syndrome.

The Annals of thoracic surgery
2017

Chédiak-Higashi syndrome with novel gene mutation.

BMJ case reports
2017

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

Scientific reports
2016

Pseudo Chediak-Higashi anomaly in acute monoblastic leukemia.

Blood
2017

Lysosomal trafficking regulator Lyst links membrane trafficking to toll-like receptor-mediated inflammatory responses.

The Journal of experimental medicine
2016

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

Immunology letters
2017

Pseudo-Chédiak-Higashi granules and other unusual cytoplasmic inclusions in refractory anaemia with excess blasts-2.

British journal of haematology
2017

Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.

Muscle &amp; nerve
2016

Oral 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 dentistry
2017

Peripheral nervous system manifestations of Chediak-Higashi disease.

Muscle &amp; nerve
2016

Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.

Cutis
2016

Chediak-Higashi Syndrome in Accelerated Phase Masquerading as Acute Leukemia.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2016

Cover Image: A dashed hair.

The British journal of dermatology
2016

Severe anemia due to parvovirus B19 in a silver haired boy.

Indian journal of pathology &amp; microbiology
2016

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology
2016

Concordance of visual and structural features between siblings with albinism.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2015

[MORPHOLOGICAL FEATURES OF NEUTROPHILS AND EOSINOPHILS GRANULES IN SAPPHIRE MINKS].

Tsitologiia
2015

Accelerated 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 : JCDR
2015

Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.

International journal of trichology
2015

Premature loss of primary teeth with gingival erythema: An alert to dentist.

Journal of oral and maxillofacial pathology : JOMFP
2015

Chediak-Higashi Syndrome: A Case Series from Karnataka, India.

Indian journal of dermatology
2015

[Differential diagnostics of hypomelanoses].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
2016

Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome.

Pediatric transplantation
2016

A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.

International journal of dermatology
2016

Chediak-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 immunology
2016

Lysosomal Trafficking Regulator (LYST).

Advances in experimental medicine and biology
2016

Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.

The British journal of ophthalmology
2016

Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.

Hematology/oncology and stem cell therapy
2015

Neutrophil functional disorder in childhood.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2016

[Chediak-Higashi syndrome: Optical microscopy of hair].

Anales de pediatria (Barcelona, Spain : 2003)
2015

A severe systemic presentation of pigmented villonodular synovitis in a child with underlying Chediak-Higashi syndrome.

Journal of pediatric orthopedics. Part B
2015

Recurrent childhood PRES.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2015

Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.

Pediatric radiology
2015

Seizure as the presenting manifestation in Griscelli syndrome type 2.

Pediatric neurology
2015

Successful stem cell transplantation in Chediak-Higashi syndrome.

The journal of allergy and clinical immunology. In practice
2014

Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.

Journal of the peripheral nervous system : JPNS
2015

Parkinsonism and Other Movement Disorders Associated with Chediak-Higashi Syndrome: Case Report and Systematic Literature Review.

Movement disorders clinical practice
2015

Infantile 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/oncology
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Doenças relacionadas

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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.

  1. Analysis of intracellular organelles in neurons differentiated from iPSCs of Ch&#xe9;diak-Higashi syndrome patients.
    Pediatrics international : official journal of the Japan Pediatric Society· 2026· PMID 41703749mais citado
  2. Chediak-Higashi Syndrome Complicated by Mucormycosis.
    Indian journal of pediatrics· 2026· PMID 41264193mais citado
  3. BEACH domain-containing proteins: emerging roles in hematopoiesis and immune homeostasis.
    Current opinion in hematology· 2026· PMID 41869922mais citado
  4. 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 &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology· 2026· PMID 41057108mais citado
  5. Skin lamellar bodies: a unique set of lysosome-related organelles.
    Frontiers in cell and developmental biology· 2025· PMID 40552305mais citado
  6. Albinism: from genetics to cell biology and physiopathology.
    Presse Med· 2025· PMID 41314540recente
  7. Fatal Chronic Varicella-Zoster Viral Infection in a Young Man With Chediak-Higashi Syndrome.
    Pediatr Dermatol· 2025· PMID 41262052recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:167(Orphanet)
  2. OMIM OMIM:214500(OMIM)
  3. MONDO:0008963(MONDO)
  4. GARD:6035(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome Chediak-Higashi
Compêndio · Raras BR

Síndrome Chediak-Higashi

ORPHA:167 · MONDO:0008963
Prevalência
<1 / 1 000 000
Casos
500 casos conhecidos
Herança
Autosomal recessive
CID-10
E70.3 · Albinismo
CID-11
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0007965
EuropePMC
Wikidata
Wikipedia
Papers 10a
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