A Síndrome de Griscelli (SG) é caracterizada por um brilho prateado acinzentado no cabelo e pouca pigmentação na pele, que pode estar associada a problemas neurológicos (tipo 1), problemas de imunidade (tipo 2) ou ser isolada (tipo 3).
Introdução
O que você precisa saber de cara
A Síndrome de Griscelli (SG) é caracterizada por um brilho prateado acinzentado no cabelo e pouca pigmentação na pele, que pode estar associada a problemas neurológicos (tipo 1), problemas de imunidade (tipo 2) ou ser isolada (tipo 3).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 62 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Can hydrolyze ATP in the presence of actin, which is essential for its function as a motor protein (PubMed:10448864). Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane (By similarity). May also be required for some polarization process involved in dendrite formation (By similarity)
Griscelli syndrome 1
Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and intellectual disability, without apparent immune abnormalities.
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:30771381). RAB27A regulates homeostasis of late endocytic pathway, including endosomal positioning, maturation an
MembraneMelanosomeLate endosomeLysosome
Griscelli syndrome 2
Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome.
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A
Cytoplasm
Griscelli syndrome 3
Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.
Variantes genéticas (ClinVar)
243 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 356 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
8 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 Griscelli
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.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
5 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Assessment of Potential Side Effects Related To RAB27A Gene Therapy in Stem Cells.
RAB27A plays an essential role in the regulation of exocytosis and intracellular vesicle trafficking. Loss-of-function mutations in the RAB27A gene cause dysfunctional immune cells and Griscelli Syndrome Type 2 (GS-2), whereas upregulation of RAB27A in cancer cells is associated with a worse prognosis and increased metastasis. Here, we wanted to assess the potential side effects of overexpression of RAB27A in different types of healthy stem cells as preparation for the development of gene therapy for GS-2. Bone marrow mesenchymal stem cells (BM-MSCs) were obtained from GS-2 patients and healthy donors. Healthy murine bone marrow-derived and human cord blood-derived hematopoietic stem/progenitor cells (HSPCs) were transduced with different lentiviral vectors carrying a codon-optimized RAB27A (RAB27Aco) transgene. Cells were used for in vitro functional assays and assessed using flow cytometry, Western Blot and RT-PCR. In vivo transplantation assays in mice were used to assess the effect of RAB27A on stem cell function. Engraftment was assessed using flow cytometry, sections of BM-MSC injection sites were analyzed using histological staining. Overexpression of RAB27A resulted in phenotypic changes in BM-MSCs and decreased colony-forming capacity of HSPCs. Transplantation of RAB27A + stem cells was not associated with any tumorigenesis. Despite high expression of RAB27A in HSPCs before transplantation, RAB27A levels in peripheral blood, bone marrow, and spleen cells remained low, indicating overexpression of RAB27A may have affected the long-term reconstitution potential. Development of gene therapy for GS-2 may require fine-tuning of RAB27A expression but is not likely to be complicated by RAB27A-induced tumorigenesis.
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.
Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal outcomes within the first decade of life. Adult-onset GS2 is extremely rare, with few documented cases. We describe a 48-year-old patient with a neurological presentation: cerebellar dysarthria, ataxia, nystagmus, and muscle hypotonia in the lower limbs. Diagnostic workup included next-generation sequencing (NGS panel), clinical investigations, and segregation analysis in the family to confirm the diagnosis of GS2. Genetic testing revealed two variants in RAB27A: The likely pathogenic c.550C>T [p.(Arg184*)] and c.213G>T [p.(Gln71His)], a variant of uncertain significance. Clinical evaluation confirmed irregular hair pigmentation due to melanosome transport defect, low natural killer cell activity, cytopenia, hypertriglyceridemia, elevated serum ferritin, and brain tissue biopsy compatible with hemophagocytosis, thus cementing the clinical diagnosis of GS2. Segregation analysis confirmed the trans configuration of the variants. Based on the clinical and genetic evidence, the p.Gln71His variant was reclassified as likely pathogenic per ACMG criteria. This rare late-onset GS2 case highlights the need to consider GS2 in adult patients with atypical presentations. Early diagnosis is vital for effective intervention. Greater clinical awareness and research are needed to understand its phenotypic spectrum in adults.
Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.
Griscelli syndrome (GS) is a rare autosomal recessive disorder marked by partial oculocutaneous albinism, immunodeficiency, and neurological issues. It has 3 types based on genetic mutations. This report focuses on a patient with GS type 2, characterized by immune abnormalities and neurological symptoms, with only 160 cases documented globally. A 1-year-old boy presented with hyperthermia, diarrhea, and vomiting, revealing hypopigmented skin and silvery-gray hair. He exhibited tachycardia, abdominal distension, hepatosplenomegaly, and signs of immunocompromise. Neurologically, he showed developmental delays and hyperreflexia. Lab tests indicated anemia, thrombocytopenia, and elevated triglycerides. Based on clinical history and laboratory tests diagnosed with GS type 2. The patient received symptomatic treatment, antibiotics, and frequent transfusions, with strict infection prevention due to limited resources for stem cell transplantation. GS, identified in 1978, is a rare autosomal recessive disorder marked by partial albinism and immunodeficiency, with around 160 cases primarily from the Mediterranean. It comprises 3 types: GS1, GS2, and GS3, each with unique genetic and clinical features. GS1 exhibits partial albinism and neurological issues without immune effects due to MYO5A mutations. GS2 presents severe immunodeficiency and risks such as hemophagocytic lymphohistiocytosis linked to RAB27A mutations. GS3, caused by melanophilin gene mutations, has a better prognosis. Diagnosis involves hair microscopy and genetic testing, and while supportive treatments exist, early diagnosis is vital for improved outcomes. GS is a rare genetic disorder with varied symptoms, categorized into 3 types, requiring genetic testing for diagnosis and treatment ranging from management to stem cell transplantation.
P300 regulates Melanophilin expression by modulating TFAP2A binding through histone acetylation.
Melanophilin is an effector protein that interacts with Rab27a and Myosin Va and regulates melanosome transport in melanocytes. Type 3 Griscelli syndrome, a mutation in Mlph gene, is characterized by partial pigment dilution, without any associated systemic problems. P300 plays roles in histone acetylation and changes chromatin state. There has been considerable interest in epigenetic regulation of melanocytes. However, epigenetic control of Mlph expression is still poorly understood. We investigated the underlying mechanisms by which P300 controls Mlph expression by histone acetylation. siRNA transfection was performed to knock down gene expression. We used numerous methods, including western blotting, quantitative PCR (qPCR), co-immunoprecipitation (co-IP), and chromatin immunoprecipitation (ChIP), to identify the mechanisms of epigenetic regulation via P300. Perinuclear aggregation of melanosome is induced and Mlph expression is decreased by knockdown of P300. In this process, TFAP2A acts as a transcription factor and regulates Mlph transcription. Knockdown of P300 decreased TFAP2A binding to intron region of Mlph and H3K27ac level and then finally reduced Mlph expression. Our study revealed that P300 facilitates an open chromatin state through acetylation of H3K27 and TFAP2A could regulate Mlph expression by binding to the intron 1 region of Mlph. Mlph expression is regulated by epigenetic regulation via P300 in melanocytes. These findings provide new insights into the epigenetic mechanism of melanosome transport.
Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.
Griscelli syndrome (GS) is an uncommon disorder characterized by partial albinism, which gives hair a silvery-grey sheen and variable immunodeficiency or neurological impairment, with pancytopenia, immune dysfunction, hepatosplenomegaly, neurological impairment, hypogammaglobulinemia, and variable cellular immunodeficiency. Three variants GS1, GS2 and GS3 have been described in different phenotypes of the disease with varying presentation. We present two neonates, born two years apart, to parents with third-degree consanguinity. Both had features of partial albinism and neutropenia at birth. Microscopy of hair showed characteristic large aggregates of pigment granules dispersed irregularly along the hair shaft. Given their family history and high clinical suspicion, a diagnosis of Griscelli syndrome was made. Early diagnosis of Griscelli syndrome can offer treatment options like Bone Marrow Transplant and prevent fatal complications like hemophagocytic lymphohistiocytosis. Supportive management during transplantation comprises of antimicrobial therapy, immunoglobulin replacement, and vigilant monitoring for complications like graft versus host disease.
Publicações recentes
Silver Strands and Skin Spots: Unveiling Griscelli Syndrome Type 3 in a 7-year-old Girl.
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.
Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.
Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.
Characteristics of Secondary Malignancy Among Children With Primary Immunodeficiency Disorders in Saudi Arabia.
📚 EuropePMC168 artigos no totalmostrando 134
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.
American journal of medical genetics. Part AGriscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.
JNMA; journal of the Nepal Medical AssociationGriscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.
MedicineCharacteristics of Secondary Malignancy Among Children With Primary Immunodeficiency Disorders in Saudi Arabia.
CureusGriscelli Syndrome Type 2 Revealed by Macrophage Activation Syndrome: Two Cases From the Same Family.
CureusAssessment of Potential Side Effects Related To RAB27A Gene Therapy in Stem Cells.
Stem cell reviews and reportsCase Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism.
Frontiers in immunologyGriscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism.
CureusEffect of genetic mutations on outcomes of stem cell transplantation in children with hemophagocytic lymphohistiocytosis.
Bone marrow transplantationGriscelli Syndrome Type 2 Secondary to a Novel RAB27A Variant Presenting With Dermatitis.
Journal of cutaneous pathologyP300 regulates Melanophilin expression by modulating TFAP2A binding through histone acetylation.
Journal of dermatological scienceA novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyRecurrent Hospitalisation in a Child With Hypopigmented Hair: Inborn Errors of Immunity Emerge.
CureusGriscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.
The Turkish journal of pediatricsExploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.
Immunologic researchRole of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.
CureusPulmonary Failure as Presentation of Griscelli Syndrome Type 2.
Pediatric pulmonologyGriscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
Journal of clinical immunologyEarly 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 ImmunologyPrimary cutaneous T-cell lymphoma not otherwise specified reveals a novel RAB27A variant in Griscelli syndrome type 2.
The British journal of dermatologyFacial cutaneous pigmentation pattern helps differentiate between Griscelli syndrome and Chediak-Higashi syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyGriscelli syndrome: a diagnostic challenge of a rare disease: a case report.
Annals of medicine and surgery (2012)Silver hair in a neonate: a tale of 2 fatal cases.
Oxford medical case reportsDiagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.
BloodAllogeneic stem cell transplant in primary hemophagocytic lymphohistiocytosis - a single-center experience.
Annals of hematologyAlbinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome.
CureusFirst Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1.
Molecular syndromologySilvery Gray Hair Syndrome With Hemophagocytic Lymphohistiocytosis: A Case Report.
CureusHemophagocytic lymphohistiocytosis in children with Griscelli syndrome type 2: genetics, laboratory findings and treatment.
American journal of clinical and experimental immunologyGriscelli Syndrome Type 2 Presenting with Isolated Neurologic Disorder.
Neurology IndiaSuccessful haploidentical bone marrow transplantation in Griscelli syndrome type 2 with non-busulfan-based regimen and post-transplantation cyclophosphamide: a case report and review of the literature.
Pediatric hematology and oncologyGriscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report.
Cureus[Acute cerebellar ataxia in Griscelli syndrome type 2].
Revista de neurologiaImmunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Frontiers in immunologyMolecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.
Scandinavian journal of immunologySlivers of Hair - A Clue to Uncover Silver Hair Syndromes.
International journal of trichologyGriscelli Syndrome in Skin of Color: A Trichoscopic Perspective.
Indian journal of dermatologyThe Role of Rab GTPases in the development of genetic and malignant diseases.
Molecular and cellular biochemistryHematopoietic stem cell Transplantation in Children with very Early Onset Inflammatory Bowel Disease Secondary to Monogenic Disorders of immune-dysregulation.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionGriscelli syndrome type 1: a novel pathogenic variant, and review of literature.
Molecular genetics and genomics : MGGEvaluation of hair structural abnormalities in children with different neurological diseases.
The Turkish journal of pediatricsEnd-stage Renal Disease in Griscelli Syndrome.
Indian journal of nephrologyGriscelli Syndrome Type 1: Hair Microscopy Clinches the Diagnosis.
Indian journal of pediatricsOverlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.
CellsThe first case of Wickerhamomyces anomalus fungemia in Iran in an immuneodeficient child, a review on the literature.
Journal de mycologie medicaleHemiparesis Revealing a Unique Neurological Hemophagocytic Lymphohistiocytosis in a Patient With Griscelli Syndrome Type 2.
CureusNeonatal Onset of Hemophagocytic Lymphohistiocytosis Due to Prenatal Varicella-Zoster Infection in a Neonate with Griscelli Syndrome Type 2.
Iranian journal of allergy, asthma, and immunologyMAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity.
Blood advancesCase series on Silvery Hair Syndromes: Single Center Experience.
Indian journal of dermatologyNovel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
Journal of clinical immunologyHigh Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy.
The Journal of pediatricsIdentification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient.
Frontiers in medicineGriscelli Syndrome Type 3 in Siblings.
International journal of trichologyTreosulfan-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 TransfusionLate Endocrine Effects after Stem Cell Transplant in a Young Girl with Griscelli Syndrome.
Case reports in pediatricsThe First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.
Annals of laboratory medicineHair microscopy: an easy adjunct to diagnosis of systemic diseases in children.
Applied microscopyMYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1.
GenesGranulomatous Lymphocytic Interstitial Lung Disease in a Spectrum of Pediatric Primary Immunodeficiencies.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietySuccessful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.
BMC pediatricsRubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.
The Journal of allergy and clinical immunologyGriscelli Syndrome in a seven years old girl.
Clinical case reportsDevelopment, characterization, and hematopoietic differentiation of Griscelli syndrome type 2 induced pluripotent stem cells.
Stem cell research & therapyRefractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion.
CureusHair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome.
Dermatopathology (Basel, Switzerland)Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure.
Pediatric hematology and oncologyDiagnostic and therapeutic caveats in Griscelli syndrome.
Scandinavian journal of immunologyPrimary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.
Allergologia et immunopathologiaLupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.
Modern rheumatologyMelanogenesis Connection with Innate Immunity and Toll-Like Receptors.
International journal of molecular sciencesGriscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
Frontiers in immunologyGriscelli Syndrome Type 3 with Coexistent Universal Dyschromia-An Uncommon Association of a Rare Entity.
Indian dermatology online journalMelanosome transport and regulation in development and disease.
Pharmacology & therapeuticsRab GTPases: Key players in melanosome biogenesis, transport, and transfer.
Pigment cell & melanoma researchNeuroimaging Findings in Griscelli syndrome: A case report and review of the literature.
Radiology case reportsCutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2.
Pediatric dermatologyPartial albinism and immunodeficiency in patients with Hermansky-Pudlak Type II: Introducing 2 novel mutations.
Scandinavian journal of immunologyNovel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family.
The Journal of dermatologyA founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
American journal of medical genetics. Part A[Clinical study of haploidentical hematopoietic stem cell transplantation on 15 cases of adult-onset primary hemophagocytic lymphohistiocytosis].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiHair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2.
Journal of the European Academy of Dermatology and Venereology : JEADVConsidering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism.
Pediatric blood & cancerCase series of three adult patients with exceptional clinical presentations of haemophagocytic lymphohistiocytosis.
The Netherlands journal of medicineHemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.
Journal of pediatric hematology/oncologyHematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients.
Bone marrow transplantationGenetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.
Clinical and experimental dermatologyTransfer of extracellular vesicle-microRNA controls germinal center reaction and antibody production.
EMBO reportsGriscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH.
International journal of dermatologyAnakinra as an agent to control hemophagocytic lymphohistiocytosis in Griscelli type 2.
Pediatric blood & cancerGriscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations.
Journal of pediatric hematology/oncologyGriscelli syndrome type 2.
QJM : monthly journal of the Association of PhysiciansHematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes.
Indian journal of pathology & microbiologyMyosin Va and spermine synthase: partners in exosome transport.
Bioscience 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)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 immunologySelective rickets from localized advanced maturation-a case report.
Skeletal radiology[Griscelli syndrome type 3: A new case].
Annales de dermatologie et de venereologieUsefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.
Pediatric dermatologyOral features of Griscelli syndrome type II: A rare case report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistrySilvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis.
Journal of cutaneous pathologyMacrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.
The Pan African medical journalA RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
The Journal of allergy and clinical immunologyGriscelli Syndrome with Fibronodular Sclerodermatous Chronic Graft Versus Host Disease.
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. BHermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
Pediatric dermatologyHematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.
Pediatric transplantationAnalogs of human genetic skin disease in domesticated animals.
International journal of women's dermatologyLight Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.
International journal of trichologyPolymorphic gastric lesions and hemorrhage after first dose of chemotherapy in a child with diffuse large B-cell lymphoma.
Clinics and research in hepatology and gastroenterologyGriscelli syndrome: A rare disorder.
Neurology IndiaA RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
Human mutationMutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.
World journal of pediatrics : WJPGriscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature.
Intractable & rare diseases research"Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome.
Skin appendage disordersGriscelli syndrome type-3.
Indian dermatology online journalMyosins: Domain Organisation, Motor Properties, Physiological Roles and Cellular Functions.
Handbook of experimental pharmacologyHaemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome.
British journal of haematologyFurther evidence for genotype-phenotype disparity in Griscelli syndrome.
The British journal of dermatologySpontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.
CutisPARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.
Genetic counseling (Geneva, Switzerland)Boy with silvery grey hair and immunodeficiency.
Journal of paediatrics and child healthGriscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis.
Turkish journal of haematology : official journal of Turkish Society of HaematologyA novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
The Journal of allergy and clinical immunologyHematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationGriscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.
Indian journal of pathology & microbiologySevere anemia due to parvovirus B19 in a silver haired boy.
Indian journal of pathology & microbiologyOptimization of cerebellar purkinje neuron cultures and development of a plasmid-based method for purkinje neuron-specific, miRNA-mediated protein knockdown.
Methods in cell biologySilvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.
International journal of trichologyGriscelli Syndrome Type 3: Two New Cases and Review of the Literature.
Pediatric dermatologySeizure as the presenting manifestation in Griscelli syndrome type 2.
Pediatric neurologyGriscelli syndrome: a case report.
Iranian journal of child neurologyIncidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden.
Pediatric blood & cancerHemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
BloodAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome Griscelli.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Griscelli
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Assessment of Potential Side Effects Related To RAB27A Gene Therapy in Stem Cells.
- Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.
- Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.
- P300 regulates Melanophilin expression by modulating TFAP2A binding through histone acetylation.
- Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.
- Silver Strands and Skin Spots: Unveiling Griscelli Syndrome Type 3 in a 7-year-old Girl.
- Characteristics of Secondary Malignancy Among Children With Primary Immunodeficiency Disorders in Saudi Arabia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:381(Orphanet)
- MONDO:0018306(MONDO)
- GARD:10913(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3281274(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