404 results match your criteria Griscelli Syndrome

Identification of a Novel Missense Mutation in a Chinese Griscelli Syndrome 3 Patient.

Front Med (Lausanne) 2022 6;9:896943. Epub 2022 May 6.

Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Melanophilin (MLPH) functions as a linker between RAB27A and myosin Va (MYO5A) in regulating skin pigmentation during the melanosome transport process. The MYO5A-MLPH-RAB27A ternary protein complex is required for anchoring mature melanosomes in the peripheral actin filaments of melanocytes for subsequent transfer to adjacent keratinocytes. Griscelli syndrome type 3 (GS3) is caused by mutations in the gene. Read More

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Griscelli Syndrome Type 3 in Siblings.

Int J Trichology 2022 Jan-Feb;14(1):38-40. Epub 2022 Feb 1.

Department of Pathology, Pandit B.D. Sharma PGIMS, Rohtak, Haryana, India.

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February 2022

The Polarity and Specificity of Antiviral T Lymphocyte Responses Determine Susceptibility to SARS-CoV-2 Infection in Patients with Cancer and Healthy Individuals.

Cancer Discov 2022 04;12(4):958-983

Center of clinical investigations BIOTHERIS, INSERM CIC1428, Gustave Roussy, Villejuif, France.

Vaccination against coronavirus disease 2019 (COVID-19) relies on the in-depth understanding of protective immune responses to severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). We characterized the polarity and specificity of memory T cells directed against SARS-CoV-2 viral lysates and peptides to determine correlates with spontaneous, virus-elicited, or vaccine-induced protection against COVID-19 in disease-free and cancer-bearing individuals. A disbalance between type 1 and 2 cytokine release was associated with high susceptibility to COVID-19. Read More

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

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

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

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

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January 2022

Late Endocrine Effects after Stem Cell Transplant in a Young Girl with Griscelli Syndrome.

Case Rep Pediatr 2021 27;2021:9981306. Epub 2021 Dec 27.

Yale University School of Medicine, Department of Pediatrics, Section of Endocrinology, 333 Cedar Street LMP 3103, New Haven, CT, USA.

. Griscelli syndrome (GS) is a rare disorder characterized by partial albinism and silver hair with alteration in genes necessary for melanin transport. Type 2 GS is fatal due to severe immunodeficiency without curative stem cell transplant (SCT). Read More

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December 2021

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

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

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

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

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November 2021

Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1.

Genes (Basel) 2021 09 23;12(10). Epub 2021 Sep 23.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.

A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated. The aim of this study was to characterize the clinical signs, histopathological changes and underlying genetic defect. The puppy had visible coat color dilution and was unable to hold its head on its own or to remain in a stable prone position for an extended period. Read More

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September 2021

Prolonged SARS-CoV-2 RNA virus shedding and lymphopenia are hallmarks of COVID-19 in cancer patients with poor prognosis.

Cell Death Differ 2021 12 6;28(12):3297-3315. Epub 2021 Jul 6.

Gustave Roussy Cancer Campus, Villejuif, France.

Patients with cancer are at higher risk of severe coronavirus infectious disease 2019 (COVID-19), but the mechanisms underlying virus-host interactions during cancer therapies remain elusive. When comparing nasopharyngeal swabs from cancer and noncancer patients for RT-qPCR cycle thresholds measuring acute respiratory syndrome coronavirus-2 (SARS-CoV-2) in 1063 patients (58% with cancer), we found that malignant disease favors the magnitude and duration of viral RNA shedding concomitant with prolonged serum elevations of type 1 IFN that anticorrelated with anti-RBD IgG antibodies. Cancer patients with a prolonged SARS-CoV-2 RNA detection exhibited the typical immunopathology of severe COVID-19 at the early phase of infection including circulation of immature neutrophils, depletion of nonconventional monocytes, and a general lymphopenia that, however, was accompanied by a rise in plasmablasts, activated follicular T-helper cells, and non-naive Granzyme BFasL, EomesTCF-1, PD-1CD8 Tc1 cells. Read More

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December 2021

Granulomatous Lymphocytic Interstitial Lung Disease in a Spectrum of Pediatric Primary Immunodeficiencies.

Pediatr Dev Pathol 2021 Nov-Dec;24(6):504-512. Epub 2021 Jun 28.

Department of Pathology, Institute for Tuberculosis and Lung Diseases, Warsaw, Poland.

Background: Granulomatous lymphocytic interstitial lung disease (GLILD) has been increasingly recognized in children affected with primary immunodeficiencies (PIDs). In this study, we aimed to better characterize the spectrum of pediatric PIDs coexisting with GLILD including clinical and immunological predictors, thoracic imaging findings, and histopathologic features.

Methods: We respectively reviewed records of six representative cases of children, three of them affected with common variable immunodeficiency (CVID) and three with syndromic immunodeficiencies, in whom a diagnosis of GLILD was established based on clinical, radiological, and histopathologic findings. Read More

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January 2022

Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.

BMC Pediatr 2021 05 31;21(1):253. Epub 2021 May 31.

Hematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045, Beijing, China.

Background: Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in GS2 and treatment has rarely been described. Read More

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Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.

J Allergy Clin Immunol 2022 01 24;149(1):388-399.e4. Epub 2021 May 24.

Division of Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.

Background: Rubella virus-induced granulomas have been described in patients with various inborn errors of immunity. Most defects impair T-cell immunity, suggesting a critical role of T cells in rubella elimination. However, the molecular mechanism of virus control remains elusive. Read More

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January 2022

Griscelli Syndrome in a seven years old girl.

Clin Case Rep 2021 May 19;9(5):e04212. Epub 2021 May 19.

Department of Emergency Medicine Kurdistan University of Medical Sciences Sanandaj Iran.

In this study, a case of Griscelli Syndrome (GS) in a 7 years old girl was reported. The patient initially presented with fever and pancytopenia in laboratory results; after ruling out the malignancies, she went under treatment with the diagnosis of infectious disease and was discharged after two weeks. Nevertheless, ten days after discharge, she developed new symptoms. Read More

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Development, characterization, and hematopoietic differentiation of Griscelli syndrome type 2 induced pluripotent stem cells.

Stem Cell Res Ther 2021 05 13;12(1):287. Epub 2021 May 13.

Graduate School of Health Sciences, Department of Stem Cell Sciences, Hacettepe University, Sıhhiye, 06100, Ankara, Turkey.

Background: Griscelli syndrome type 2 (GS-2) is a rare, autosomal recessive immune deficiency syndrome caused by a mutation in the RAB27A gene, which results in the absence of a protein involved in vesicle trafficking and consequent loss of function of in particular cytotoxic T and NK cells. Induced pluripotent stem cells (iPSC) express genes associated with pluripotency, have the capacity for infinite expansion, and can differentiate into cells from all three germ layers. They can be induced using integrative or non-integrative systems for transfer of the Oct4, Sox2, Klf4, and cMyc (OSKM) transcription factors. Read More

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Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion.

Cureus 2021 Apr 10;13(4):e14402. Epub 2021 Apr 10.

Neurology, Universidad San Francisco de Quito, Quito, ECU.

Griscelli syndrome (GS) is a rare syndrome characterized by hypopigmentation, immunodeficiency, and neurological features. The genes Ras-related protein (RAB27A) and Myosin-Va (MYO5A) are involved in this condition's pathogenesis. We present a GS type 1 (GS1) case with developmental delay, hypotonia, and refractory seizures despite multiple medications, which included clobazam, cannabinol, zonisamide, and a ketogenic diet. Read More

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Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome.

Dermatopathology (Basel) 2021 Mar 9;8(1):49-53. Epub 2021 Mar 9.

Department of Dermatology, Hospital Universitario Virgen de las Nieves, 18012 Granada, Spain.

Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem disorders, such as immune system impairment, defects in immunological function, ocular and skeletal alterations, and nervous system defects. Herein, we report a rare case of GS type 1 and highlight the importance of a dermatological and hair examination to make an early diagnosis of these life-threatening diseases. Read More

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Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote variants presenting with pulmonary failure.

Pediatr Hematol Oncol 2021 Sep 1;38(6):593-601. Epub 2021 Apr 1.

University of Minnesota Pediatric Blood and Marrow Transplantation/Cellular Therapy, University of Minnesota, Minneapolis, Minnesota, USA.

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September 2021

Diagnostic and therapeutic caveats in Griscelli syndrome.

Scand J Immunol 2021 Jun 20;93(6):e13034. Epub 2021 Mar 20.

Dermatology Department, Instituto Nacional de Pediatria, Mexico City, Mexico.

Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. Cerebral magnetic resonance revealed diffuse white matter lesions, and central nervous system (CNS) lymphocytic infiltration was suspected. Read More

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Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.

Allergol Immunopathol (Madr) 2021 1;49(2):178-190. Epub 2021 Mar 1.

Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Munich, Germany.

Primary immunodeficiency diseases (PIDs) are a group of more than 400 disorders representing aberrant functioning or development of immune system. Hypopigmentation syndromes also characterize a distinguished cluster of diseases. However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2 and type 10, Vici syndrome, and P14/LAMTOR2 deficiency, all of which are linked with dysfunction in vesicular/endosomal trafficking. Read More

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October 2021

Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.

Mod Rheumatol 2021 Nov 22;31(6):1171-1178. Epub 2021 Feb 22.

College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Objectives: To report the phenotypic, genetic findings and outcome of children with lupus manifestations associated with primary immunodeficiency diseases (PIDs).

Methods: Data are retrospectively collected on patients with lupus manifestations and PIDs seen between 1998 and 2019. Data comprised the clinical findings and genetic testing, the response to treatment and the accrual damage related to SLE. Read More

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November 2021

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

Drug Discov Today Dis Models 2020 9;31:31-36. Epub 2019 Dec 9.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Since the initial description of Chediak-Higashi syndrome (CHS), over 75 years ago, several studies have been conducted to underscore the role of the lysosomal trafficking regulator gene in the pathogenesis of disease. CHS is a rare autosomal recessive disorder, which is caused by biallelic mutations in the highly conserved gene. The disease is characterized by partial oculocutaneous albinism, prolonged bleeding, immune and neurologic dysfunction, and risk for the development of hemophagocytic lympohistiocytosis (HLH). Read More

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December 2019

Melanogenesis Connection with Innate Immunity and Toll-Like Receptors.

Int J Mol Sci 2020 Dec 21;21(24). Epub 2020 Dec 21.

Department of Dermatology, Tohoku University Graduate School of Medicine, Miyagi 980-8574, Japan.

The epidermis is located in the outermost layer of the living body and is the place where external stimuli such as ultraviolet rays and microorganisms first come into contact. Melanocytes and melanin play a wide range of roles such as adsorption of metals, thermoregulation, and protection from foreign enemies by camouflage. Pigmentary disorders are observed in diseases associated with immunodeficiency such as Griscelli syndrome, indicating molecular sharing between immune systems and the machineries of pigment formation. Read More

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December 2020

Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.

Front Immunol 2020 10;11:612977. Epub 2020 Dec 10.

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

Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by mutations that encode RAB27A, a member of the Rab GTPase family. RAB27A is expressed in many tissues and regulates vesicular transport and organelle dynamics. Read More

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Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia-An Uncommon Association of a Rare Entity.

Indian Dermatol Online J 2020 Sep-Oct;11(5):799-803. Epub 2020 Sep 19.

Department of Pathology, Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital, New Delhi, India.

Griscelli syndrome type 3 is an autosomal recessive disorder caused by mutations in the melanophilin gene and does not have any mucocutaneous or systemic abnormalities other than a pigmentary dilution of skin and hair. We report a case of an 8-year-old girl who presented with silvery grey hair of scalp, eyebrows, eyelashes, and entire body surface with associated universal dyschromia of the skin. After establishing a definite diagnosis of Griscelli syndrome 3, the prognosis was explained and counseling was given. Read More

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September 2020

Melanosome transport and regulation in development and disease.

Pharmacol Ther 2021 03 17;219:107707. Epub 2020 Oct 17.

Skin Disease Research Institute, The 2nd Hospital, Zhejiang University, Hangzhou 310058, China. Electronic address:

Melanosomes are specialized membrane-bound organelles that synthesize and organize melanin, ultimately providing color to the skin, hair, and eyes. Disorders in melanogenesis and melanosome transport are linked to pigmentary diseases, such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome. Clinical cases of these pigmentary diseases shed light on the molecular mechanisms that control melanosome-related pathways. Read More

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Rab GTPases: Key players in melanosome biogenesis, transport, and transfer.

Mitsunori Fukuda

Pigment Cell Melanoma Res 2021 03 14;34(2):222-235. Epub 2020 Oct 14.

Laboratory of Membrane Trafficking Mechanisms, Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Miyagi, Japan.

Melanosomes are specialized intracellular organelles that produce and store melanin pigments in melanocytes, which are present in several mammalian tissues and organs, including the skin, hair, and eyes. Melanosomes form and mature stepwise (stages I-IV) in melanocytes and then are transported toward the plasma membrane along the cytoskeleton. They are subsequently transferred to neighboring keratinocytes by a largely unknown mechanism, and incorporated melanosomes are transported to the perinuclear region of the keratinocytes where they form melanin caps. Read More

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Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature.

Radiol Case Rep 2020 Nov 15;15(11):2339-2342. Epub 2020 Sep 15.

Department of Radiology, Prince Sultan Military Medical City , Riyadh, Kingdom of Saudi Arabia.

Our case involved a 1-year-old female with multiple admissions for chest infections. Given her family history and high clinical suspicion, a diagnosis of Griscelli syndrome and hemophagocytic lymphohistiocytosis was made. Her work-up included a brain MRI, which revealed diffuse volume loss and corpus callosum hypogenesis associated with a diffuse simplified pattern of the sulci and gyri compatible with lissencephaly. Read More

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November 2020

Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2.

Pediatr Dermatol 2021 Jan 23;38(1):194-197. Epub 2020 Sep 23.

Division of Dermatology, Department of Medicine, University of Ottawa, Ottawa, ON, Canada.

Griscelli syndrome type 2 is a rare autosomal recessive disorder characterized by hypopigmentation, silvery hair, and immunological dysfunction with no primary neurological impairment. We report an 18-month-old girl with Griscelli syndrome type 2 who presented to the dermatology department for cutaneous granulomas that developed following live-attenuated vaccination. Two compound heterozygous variants in the RAB27A gene were subsequently identified. Read More

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January 2021

Novel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family.

J Dermatol 2020 Nov 30;47(11):e382-e383. Epub 2020 Aug 30.

Faculty of Life Sciences, University of Central Punjab (UCP), Lahore, Pakistan.

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November 2020