394 results match your criteria Griscelli Syndrome

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 2021 May 22. Epub 2021 May 22.

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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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 May 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 Apr 1:1-10. Epub 2021 Apr 1.

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

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

Mod Rheumatol 2021 Feb 22:1-16. 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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February 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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December 2020

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 Mar 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 Mar 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

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.

Am J Med Genet A 2020 11 28;182(11):2570-2580. Epub 2020 Aug 28.

Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar.

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the RAB27A gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed and analyzed the medical records of 12 individuals with GS2 from six families belonging to a highly consanguineous Qatari tribe and with a recurrent pathogenic variant in the RAB27A gene (NM_004580.4: c. Read More

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November 2020

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

Clin Exp Immunol 2020 10 21;202(1):60-71. Epub 2020 Jul 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Primary immune deficiency (PID) disorders are clinically and molecularly heterogeneous diseases. T cell receptor excision circles (TRECs) and κ (kappa)-deleting excision circles (KRECs) are markers of T and B cell development, respectively. They are useful tools to assess T and B cell function and immune reconstitution and have been used for newborn screening for severe combined immunodeficiency disease (SCID) and agammaglobulinemia, respectively. Read More

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October 2020

[Clinical study of haploidentical hematopoietic stem cell transplantation on 15 cases of adult-onset primary hemophagocytic lymphohistiocytosis].

Zhonghua Xue Ye Xue Za Zhi 2020 Jun;41(6):511-516

Department of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.

This study was designed to evaluate the efficacy of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) for adult-onset primary hemophagocytic lymphohistiocytosis (HLH) . A retrospective study was carried out to analyze the clinical data of 15 adult patients with primary HLH who received haplo-HSCT from January 2013 to October 2019 in Beijing Friendship Hospital, Capital Medical University, Beijing, China. Among the 15 patients included in the study, ten were males and five were females, with a median age of 21 years old (18-52) . Read More

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Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism.

Pediatr Blood Cancer 2020 08 27;67(8):e28312. Epub 2020 May 27.

Division of Clinical Neuroscience, Department of Pediatrics, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

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Case series of three adult patients with exceptional clinical presentations of haemophagocytic lymphohistiocytosis.

Neth J Med 2020 04;78(3):136-141

Department of Rheumatology and Clinical immunology, University Medical Center Utrecht, Utrecht, the Netherlands.

Macrophage activation syndrome (MAS) is a secondary form of haemophagocytic lymphohistiocytosis (HLH). MAS-HLH is an underrecognised and life-threatening condition associated with a heterogeneous group of diseases including connective tissue disease and inflammatory disorders. Here, we report three cases of adult patients with MAS-HLH triggered by different entities, including systemic lupus erythematosus, Griscelli syndrome type 2, and Adult onset Still's disease. Read More

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Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.

J Pediatr Hematol Oncol 2020 08;42(6):e434-e439

Department of Pediatrics, Division of Pediatric Immunology.

Hemophagocytic lymphohistiocytosis (HLH) is characterized by uncontrolled and excessive immune responses with high mortality. We aimed to define mortality-related parameters in HLH secondary to primary immunodeficiency (PID). A total of 28 patients with HLH between the years 2013 and 2017 were enrolled in the study. Read More

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Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients.

Bone Marrow Transplant 2020 10 14;55(10):2026-2034. Epub 2020 Apr 14.

Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

In 2010, we reported the outcome of hematopoietic stem cell transplantation (HSCT) in 11 children with Griscelli syndrome type 2 (GS2). We report here the update on this cohort to include 35 patients. Twenty-seven (77%) patients received conditioning regimen including busulfan, cyclophosphamide with etoposide. Read More

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October 2020

Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.

Clin Exp Dermatol 2020 Aug 10;45(6):789-792. Epub 2020 Apr 10.

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

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Transfer of extracellular vesicle-microRNA controls germinal center reaction and antibody production.

EMBO Rep 2020 04 19;21(4):e48925. Epub 2020 Feb 19.

Immunology Service, Hospital de la Princesa, Instituto Investigación Sanitaria Princesa, Universidad Autónoma de Madrid, Madrid, Spain.

Intercellular communication orchestrates effective immune responses against disease-causing agents. Extracellular vesicles (EVs) are potent mediators of cell-cell communication. EVs carry bioactive molecules, including microRNAs, which modulate gene expression and function in the recipient cell. Read More

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