371 results match your criteria Griscelli Syndrome


Hair pigment distribution changes after haematopoietic stem cell transplantation in griscelli syndrome type 2.

J Eur Acad Dermatol Venereol 2020 Jun 28. Epub 2020 Jun 28.

Dermatology Departments, Instituto Nacional de Pediatría, Mexico City, Mexico.

Griscelli syndrome type 2 (GS2) features silvery-grey hair, bronzed skin and immunodeficiency.  The only curative treatment for GS2 is haematopoietic stem cell transplantation (HSCT) which corrects the immune and haematologic defects with persistence of oculocutaneous abnormalities. Read More

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http://dx.doi.org/10.1111/jdv.16795DOI Listing

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 Aug 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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http://dx.doi.org/10.1002/pbc.28312DOI Listing

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

Neth J Med 2020 Apr;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 Apr 21. Epub 2020 Apr 21.

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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http://dx.doi.org/10.1097/MPH.0000000000001803DOI Listing

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

Bone Marrow Transplant 2020 Apr 14. 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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http://dx.doi.org/10.1038/s41409-020-0885-6DOI Listing

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

Clin Exp Dermatol 2020 Apr 10. 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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http://dx.doi.org/10.1111/ced.14220DOI Listing

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

EMBO Rep 2020 Apr 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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http://dx.doi.org/10.15252/embr.201948925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132182PMC

Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH.

Int J Dermatol 2020 Mar 13;59(3):e55-e57. Epub 2019 Nov 13.

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

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http://dx.doi.org/10.1111/ijd.14724DOI Listing

Anakinra as an agent to control hemophagocytic lymphohistiocytosis in Griscelli type 2.

Pediatr Blood Cancer 2019 12 18;66(12):e27997. Epub 2019 Sep 18.

Department of Pediatrics, Division of Allergy, Immunology, & Rheumatology, University of Florida, Gainesville, Florida.

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http://dx.doi.org/10.1002/pbc.27997DOI Listing
December 2019

Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations.

J Pediatr Hematol Oncol 2019 08;41(6):473-477

Division of Pediatric Hematology-Oncology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR.

Griscelli syndrome type 2 (GS2) is an autosomal recessive condition associated with the development of hemophagocytic lymphohistiocytosis. GS2 is caused by a gene mutation involving RAB27A, which affects a melanosome anchoring complex in melanocytes and releases cytolytic granules from T cells and natural killer cells. GS2 is known to have immunologic compromise and oculocutaneous albinism. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001522DOI Listing
August 2019
25 Reads

Griscelli syndrome type 2.

QJM 2020 Feb;113(2):137

Department of Pediatrics, Government Multi-Specialty Hospital, Sector 16, Chandigarh, India.

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http://dx.doi.org/10.1093/qjmed/hcz144DOI Listing
February 2020
5 Reads

Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes.

Indian J Pathol Microbiol 2019 Apr-Jun;62(2):279-282

Department of Transplant Immunology and Immunogenetics, All India Institute of Medical Sciences, New Delhi, India.

Griscelli syndrome is a rare autosomal recessive inherited disorder characterized by hypopigmentation, silver colored hair, and associated immunological deficiency, which proves fatal in the absence of timely intervention. Our patients diagnosed with Griscelli syndrome-2 presented with fever, hepatosplenomegaly, and deranged hematological and biochemical parameters. Both cases underwent detailed investigations comprising of hair mount microscopic examination, degranulation assay, and mutational studies. Read More

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http://dx.doi.org/10.4103/IJPM.IJPM_645_18DOI Listing
August 2019
13 Reads

Myosin Va and spermine synthase: partners in exosome transport.

Authors:
David J Timson

Biosci Rep 2019 Apr 30;39(4). Epub 2019 Apr 30.

School of Pharmacy and Biomolecular Sciences, University of Brighton, Huxley Building, Lewes Road, Brighton BN2 4GJ, U.K.

A recent paper in Bioscience Reports (BSR20182189) describes the discovery of an interaction between the motor protein myosin Va and the metabolic enzyme spermine synthase. Myosin Va is a molecular motor which plays a key role in vesicle transport. Mutations in the gene which encodes this protein are associated with Griscelli syndrome type 1 and the 'dilute' phenotype in animals. Read More

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http://bioscirep.org/lookup/doi/10.1042/BSR20190326
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http://dx.doi.org/10.1042/BSR20190326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488853PMC
April 2019
20 Reads

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

Traffic 2019 06;20(6):404-435

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania.

Lysosome-related organelles (LROs) comprise a diverse group of cell type-specific, membrane-bound subcellular organelles that derive at least in part from the endolysosomal system but that have unique contents, morphologies and functions to support specific physiological roles. They include: melanosomes that provide pigment to our eyes and skin; alpha and dense granules in platelets, and lytic granules in cytotoxic T cells and natural killer cells, which release effectors to regulate hemostasis and immunity; and distinct classes of lamellar bodies in lung epithelial cells and keratinocytes that support lung plasticity and skin lubrication. The formation, maturation and/or secretion of subsets of LROs are dysfunctional or entirely absent in a number of hereditary syndromic disorders, including in particular the Hermansky-Pudlak syndromes. Read More

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http://dx.doi.org/10.1111/tra.12646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541516PMC
June 2019
12 Reads

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

Medicina (Kaunas) 2019 Mar 25;55(3). Epub 2019 Mar 25.

Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy.

The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. GHSs encompass Griscelli, Chediak⁻Higashi, Elejalde, and Cross syndromes, which are all characterized by a broad spectrum of severe multisystem disorders, including neurological, ocular, skeletal, and immune system impairment. Read More

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http://dx.doi.org/10.3390/medicina55030078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6473230PMC
March 2019
10 Reads

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.

J Clin Immunol 2019 02 18;39(2):182-187. Epub 2019 Feb 18.

Department of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, 320, Padma complex, Anna salai, Teynampet, Chennai, Tamil Nadu, 600035, India.

Haploidentical stem cell transplantation (haplo SCT) has emerged as an acceptable alternative to matched family donor transplantation for children diagnosed to have primary immune deficiency disorders (PIDs). We present data over 4 years on the challenges and efficacy of unmanipulated T cell replete haplo SCTs with post-transplant cyclophosphamide (PTCy) in children diagnosed to have PIDs. We performed a retrospective study in the pediatric blood and marrow transplantation unit where all children less than 18 years of age diagnosed to have PIDs and who underwent haplo SCT with PTCy from January 2014 to February 2018 were included in the study. Read More

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http://dx.doi.org/10.1007/s10875-019-00600-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7100782PMC
February 2019
29 Reads
3.184 Impact Factor

Modeling malignancies using induced pluripotent stem cells: from chronic myeloid leukemia to hereditary cancers.

Exp Hematol 2019 03 16;71:61-67. Epub 2019 Jan 16.

INSERM UMR-S 935 and ESTeam Paris Sud, Université Paris Sud, Villejuif, France; INGESTEM National iPSC Infrastructure, Villejuif, France.

Over the last decade, the possibility of reprogramming malignant cells to a pluripotent state has been achieved in several hematological malignancies, including myeloproliferative neoplasms, myelodysplastic syndromes, and chronic myeloid leukemia (CML). It has been shown that it is readily possible to generate induced pluripotent stem cells (iPSCs) from several types of primary CML cells and to generate progenitors and differentiated cells with variable efficiency. Although these experiments have brought some new insights in the understanding of CML pathophysiology, the ultimate goal of generating induced leukemic stem cells (LSCs) with long-term multilineage potential has not yet been demonstrated. Read More

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http://dx.doi.org/10.1016/j.exphem.2019.01.003DOI Listing
March 2019
24 Reads

Selective rickets from localized advanced maturation-a case report.

Authors:
Alan E Oestreich

Skeletal Radiol 2019 Aug 20;48(8):1289-1291. Epub 2018 Nov 20.

Department of Radiology ML 5031, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229-3039, USA.

An unusual cause of rickets is illustrated by a patient with infantile multisystem inflammatory disease who, by age 2 years and 4 months, developed striking radiographic and clinical rickets restricted to those joints involved by the inflammatory process. The locally increased vascularity from his inflammation led to increased maturation at those sites so rapid as to override the usual enchondral calcification, thus causing a rickets pattern. Other sites, such as the proximal humeri, lacking any inflammation, showed no increased maturation rate and did not manifest local rickets. Read More

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http://dx.doi.org/10.1007/s00256-018-3114-2DOI Listing
August 2019
5 Reads

[Griscelli syndrome type 3: A new case].

Ann Dermatol Venereol 2018 Dec 30;145(12):785-789. Epub 2018 Oct 30.

Service de dermatologie, GHR Mulhouse Sud-Alsace, 87, avenue Altkirch, 68100 Mulhouse, France.

Introduction: Griscelli syndrome (GS) is a rare autosomal-recessive genetic disease characterized by hypopigmentation of skin and hair. We report a case of GS type 3 with late diagnosis.

Observation: A 31-year-old female patient had presented depigmentation of the hair and eyebrows as well as diffuse skin hypopigmentation during childhood. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01519638183115
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http://dx.doi.org/10.1016/j.annder.2018.07.030DOI Listing
December 2018
34 Reads

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

Pediatr Dermatol 2018 Nov 18;35(6):780-783. Epub 2018 Oct 18.

Department of Dermatology, National Institute of Pediatrics, Mexico City, Mexico.

Background/objectives: Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. Read More

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http://dx.doi.org/10.1111/pde.13624DOI Listing
November 2018
14 Reads

Oral features of Griscelli syndrome type II: A rare case report.

Spec Care Dentist 2018 Nov 12;38(6):421-425. Epub 2018 Sep 12.

Orthodontics and Dentofacial Deformities, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.

Griscelli syndrome (GS) is an autosomal-recessive disorder of the vesicle transport and membrane trafficking system first identified by Griscelli et al in 1978. The three types of GS have specific genetic defects and systemic manifestations apart from classic partial pigmentary dilution, resulting in hypopigmentation of skin and silvery hair. GS-II occurs due to a defect in the Rab27a gene and is characterized by primary immune deficiency along with accelerated phases of a hemophagocytic lymphohistiocytosis (HLH) crisis. Read More

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http://dx.doi.org/10.1111/scd.12328DOI Listing
November 2018
8 Reads

Authors' reply.

Indian J Dermatol Venereol Leprol 2018 Sep-Oct;84(5):584

Department of Dermatology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_451_18DOI Listing
August 2019
4 Reads

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis.

J Cutan Pathol 2018 Dec 25;45(12):918-922. Epub 2018 Sep 25.

Department of Dermatology, North DMC Medical College and Hindurao Hospital, New Delhi, India.

We herein illustrate a case of an adult male presenting with silvery hair and generalized guttate hypopigmented macules on a background of diffuse cutaneous hyperpigmentation, since birth. Histopathology showed enlarged melanocytes with abundant melanin. Based on these clinicopathological features, differential diagnoses considered were Griscelli syndrome 3 (GS3) and familial giagantic melanocytosis. Read More

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http://dx.doi.org/10.1111/cup.13342DOI Listing
December 2018
12 Reads

Aryl hydrocarbon receptor (AHR) is a novel druggable pathway controlling malignant progenitor proliferation in chronic myeloid leukemia (CML).

PLoS One 2018 9;13(8):e0200923. Epub 2018 Aug 9.

Inserm U935, Villejuif, France.

Aryl Hydrocarbon Receptor (AHR) is an ubiquitous basic helix-loop-helix transcription factor, which is ligand-activated and involved in numerous biological processes including cell division, cell quiescence and inflammation. It has been shown that AHR is involved in normal hematopoietic progenitor proliferation in human cells. In addition, loss of AHR in knockout mice is accompanied by a myeloproliferative syndrome-like disease, suggesting a role of AHR in hematopoietic stem cell (HSC) maintenance. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0200923PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084853PMC
January 2019
17 Reads

Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.

Pan Afr Med J 2018 25;29:75. Epub 2018 Jan 25.

Center for Hematology and Oncology Paediatrics, Children's hospital, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.

Macrophage activation syndrome (MAS) is a severe and potentially fatal life-threatening condition associated with excessive activation and expansion of T cells with macrophages and a high expression of cytokines, resulting in an uncontrolled inflammatory response, with high levels of macrophage colony-stimulating factor and causing multiorgan damage. This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases. It is characterised clinically by unremitting high fever, pancytopaenia, hepatosplenomegaly, hepatic dysfunction, encephalopathy, coagulation abnormalities and sharply increased levels of ferritin. Read More

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http://dx.doi.org/10.11604/pamj.2018.29.75.12353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987098PMC
June 2018
68 Reads

Griscelli Syndrome with Fibronodular Sclerodermatous Chronic Graft Versus Host Disease.

Authors:
Rahul Naithani

Indian J Hematol Blood Transfus 2018 Jan 21;34(1):151-152. Epub 2017 Apr 21.

Division of Hematology and Bone Marrow Transplant, Max Superspeciality Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s12288-017-0817-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786614PMC
January 2018
5 Reads

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

J Mater Chem B 2018 Jan 8;6(4):580-585. Epub 2018 Jan 8.

Key Laboratory of Cluster Science of Ministry of Education, Beijing Key Laboratory of Photoelectronic/Electrophotonic Conversion Materials, Analytical and Testing Center, School of Chemistry and Chemical Engineering, Beijing Institute of Technology, Beijing 100081, P. R. China.

The lysosome, which acts as the cellular recycling centre, is filled with numerous hydrolases that can degrade most cellular macromolecules. The abnormalities of the lysosome are closely associated with diseases, such as Heřmanský-Pudlák syndrome, Griscelli syndrome and Chédiak-Higashi syndrome. Studies have shown that abnormal viscosity and the accumulation of reactive oxygen species (ROS) in the lysosome will disorder the normal function of the lysosome. Read More

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http://dx.doi.org/10.1039/c7tb02615cDOI Listing
January 2018

Transcriptional landscape of a RET-mutated iPSC and its CRISPR-corrected isogenic control reveals the putative role of EGR1 transcriptional program in the development of multiple endocrine neoplasia type 2A-associated cancers.

Stem Cell Res 2018 01 23;26:8-16. Epub 2017 Nov 23.

Inserm UMRS 935, Université Paris Sud, Villejuif, France; ESTeam Paris Sud, Infrastructure INGESTEM, Villejuif, France; APHP, Division of Hematology-of Paris Sud University Hospitals, University Paris Sud, Le Kremlin Bicêtre, France. Electronic address:

MEN2A is a hereditary cancer-predisposing syndrome that affects patients with germline RET mutations. The effects of this oncogenic tyrosine kinase in the context of primitive stem cells are not known. In order to study these events, we generated a MEN2A induced Pluripotent Stem Cell (iPSC) line from a patient with RET mutation and an isogenic counterpart by CRISPR-Cas9 correction of the mutation. Read More

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http://dx.doi.org/10.1016/j.scr.2017.11.015DOI Listing
January 2018
58 Reads

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

Pediatr Dermatol 2017 Nov 16;34(6):638-646. Epub 2017 Oct 16.

Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet-dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid-like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. Read More

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http://dx.doi.org/10.1111/pde.13266DOI Listing
November 2017
21 Reads

Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2B (MEN2B) syndrome with "highest risk" RET mutation.

Stem Cell Res 2017 08 22;23:154-157. Epub 2017 Jul 22.

INSERM U935, Université Paris Sud, 94800, Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800, Villejuif, France; INGESTEM National IPSC Infrastructure, 94800 Villejuif, France; Division of Hematology, Paris Sud University Hospitals, Le Kremlin Bicêtre 94275, France; Division of Hematology, Paris Sud University Hospitals, Villejuif 94800, France. Electronic address:

Multiple Endocrine Neoplasia Type 2B (MEN2B) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC) and pheochromocytoma. Currently, there is no satisfactory model recapitulating all the features of the disease especially at the level of stem cells. Read More

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http://dx.doi.org/10.1016/j.scr.2017.07.022DOI Listing
August 2017
11 Reads

Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.

Pediatr Transplant 2017 Nov 23;21(7). Epub 2017 Aug 23.

Division of Bone Marrow Transplantation, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

GS2 is a rare autosomal recessive disease characterized by hypopigmentation, variable immunodeficiency with HLH. HSCT is the only curative treatment for GS2. We analyzed the outcome of 10 children with GS2 who underwent HSCT at our center between October 1997 and September 2013. Read More

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http://dx.doi.org/10.1111/petr.13040DOI Listing
November 2017
68 Reads

Analogs of human genetic skin disease in domesticated animals.

Int J Womens Dermatol 2017 Sep 3;3(3):170-175. Epub 2017 Mar 3.

Department of Dermatology, University of Connecticut School of Medicine, Farmington, CT.

Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. Read More

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http://dx.doi.org/10.1016/j.ijwd.2017.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555282PMC
September 2017
10 Reads

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

Int J Trichology 2017 Jan-Mar;9(1):38-41

Department of Pediatrics, Division of Pediatric Neurology, Rainbow Children's Tertiary Care Centre, Hyderabad, Telangana, India.

Gray hair syndromes are rare syndromes which have an autosomal recessive inheritance and are characterized by pigmentary dilution of skin and hair, defects in immunological function, and nervous system defects. They comprise three disorders namely Chediak-Higashi syndrome (CHS), Griscelli syndrome (GPS), and Elejalde syndrome. Clinically, it is difficult to distinguish these disorders as their clinical features may overlap. Read More

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http://dx.doi.org/10.4103/ijt.ijt_21_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514796PMC
August 2017
10 Reads

Polymorphic gastric lesions and hemorrhage after first dose of chemotherapy in a child with diffuse large B-cell lymphoma.

Clin Res Hepatol Gastroenterol 2018 06 27;42(3):175-177. Epub 2017 Jul 27.

Hospices civils de Lyon, hôpital Femme-Mère-Enfant, service de gastroenterologie, hepatologie et nutrition pédiatrique, 59, boulevard Pinel, 69677 Bron cedex, France.

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http://dx.doi.org/10.1016/j.clinre.2017.06.009DOI Listing
June 2018
24 Reads

Griscelli syndrome: A rare disorder.

Neurol India 2017 Jul-Aug;65(4):869-870

Department of Radiodiagnosis, Pandit JNM Medical College and Dr. B.R. Ambedkar Memorial Hospital, Raipur, Chhattisgarh, India.

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http://dx.doi.org/10.4103/neuroindia.NI_762_16DOI Listing
July 2019
9 Reads

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.

Hum Mutat 2017 10 19;38(10):1355-1359. Epub 2017 Jun 19.

Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France.

Griscelli syndrome type 2 (GS2) is a rare and often fatal autosomal recessive, hyperinflammatory disorder. It is associated with hypopigmentation of the skin and the hair, resulting in the characteristic pigment accumulation and clumping in the hair shaft. Loss-of-function mutations in RAB27A, resulting from point mutations, short indel, or large deletions, account for all the cases reported to date. Read More

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http://dx.doi.org/10.1002/humu.23274DOI Listing
October 2017
44 Reads

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.

World J Pediatr 2017 08;13(4):392-394

Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.

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http://dx.doi.org/10.1007/s12519-017-0037-2DOI Listing
August 2017
16 Reads

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

Intractable Rare Dis Res 2017 Feb;6(1):76-79

Department of Pediatrics, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.

Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genes are responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2 commonly develops hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency. Read More

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http://dx.doi.org/10.5582/irdr.2016.01084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359361PMC
February 2017
15 Reads

"Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome.

Skin Appendage Disord 2017 Jan 27;2(3-4):143-145. Epub 2016 Oct 27.

2nd Department of Dermatology and Venereology, National and Kapodistrian University of Athens Medical School, "Attikon" University General Hospital, Athens, Greece.

We report a case of a 5-year-old girl with physical and psychomotor retardation, acquired microcephaly, and history of recurrent infections. Dermoscopic and microscopic hair examination revealed a "road-dividing line"-like pigmentation of hair shafts. The combination of history, clinical findings, and hair examination led to the diagnosis of Griscelli syndrome type II. Read More

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http://dx.doi.org/10.1159/000452165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264357PMC
January 2017
11 Reads

Griscelli syndrome type-3.

Indian Dermatol Online J 2016 Nov-Dec;7(6):506-508

Department of Dermatology, BJ Medical College and Civil Hospital, Ahmedabad, Gujarat, India.

Griscelli syndrome (GS) is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment, and abnormal accumulation of melanosomes in melanocytes. GS type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 GS and usually require no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment plays a crucial role in patient's survival. Read More

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http://dx.doi.org/10.4103/2229-5178.193910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134165PMC
December 2016
16 Reads

Myosins: Domain Organisation, Motor Properties, Physiological Roles and Cellular Functions.

Handb Exp Pharmacol 2017 ;235:77-122

Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK.

Myosins are cytoskeletal motor proteins that use energy derived from ATP hydrolysis to generate force and movement along actin filaments. Humans express 38 myosin genes belonging to 12 classes that participate in a diverse range of crucial activities, including muscle contraction, intracellular trafficking, cell division, motility, actin cytoskeletal organisation and cell signalling. Myosin malfunction has been implicated a variety of disorders including deafness, hypertrophic cardiomyopathy, Usher syndrome, Griscelli syndrome and cancer. Read More

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http://link.springer.com/10.1007/164_2016_29
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http://dx.doi.org/10.1007/164_2016_29DOI Listing
September 2017
10 Reads

Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation.

Stem Cell Res 2016 07 27;17(1):154-157. Epub 2016 Jun 27.

INSERM U935, Université Paris Sud, 94800 Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800 Villejuif, France; INGESTEM National IPSC Infrastructure, 94800 Villejuif, France; Division of Hematology, Paris Sud University hospitals, Le Kremlin Bicêtre 94275, Villejuif 94800, France. Electronic address:

Multiple Endocrine Neoplasia Type 2A (MEN2A) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism and cutaneous lichen amyloidosis (CLA) and/or Hirschsprung disease in some variants. Currently, there is no satisfactory animal model recapitulating all the features of the disease especially at the level of stem cells. Read More

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http://dx.doi.org/10.1016/j.scr.2016.06.008DOI Listing
July 2016
21 Reads

Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome.

Authors:
Dan Lipsker

Br J Haematol 2016 10 19;175(1):11. Epub 2016 Jul 19.

Faculté de Médecine, Université de Strasbourg et Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://doi.wiley.com/10.1111/bjh.14252
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http://dx.doi.org/10.1111/bjh.14252DOI Listing
October 2016
6 Reads

Further evidence for genotype-phenotype disparity in Griscelli syndrome.

Br J Dermatol 2017 04 7;176(4):1086-1089. Epub 2017 Feb 7.

St John's Institute of Dermatology, King's College London, London, U.K.

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http://doi.wiley.com/10.1111/bjd.14866
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http://dx.doi.org/10.1111/bjd.14866DOI Listing
April 2017
7 Reads

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

Cutis 2016 Jun;97(6):E1-5

Department of Dermatology, Hospital Clínic, University of Barcelona, Spain.

Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Griscelli syndrome (GS). We report the case of a 2-month-old male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative disorders. The patient was delivered at 35 weeks' gestation with congenital hydrops fetalis associated with a chromosomal abnormality (46,XY,add[2],[p23]), hypothyroidism, hypoproteinemia, and hypogammaglobulinemia. Read More

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June 2016
69 Reads

PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

Genet Couns 2016 ;27(1):67-76

Background And Aim: Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndromes confer susceptibility to develop a life-threatening hyperinflammatory condition called hemophagocytic lymphohistiocytosis (HLH). We investigated the genetic, clinical and immunological characteristics of 20 OCA patients. Read More

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June 2016
11 Reads

Boy with silvery grey hair and immunodeficiency.

J Paediatr Child Health 2016 Apr;52(4):465

Paediatrics, Institute of Child Health, Kolkata, West Bengal, India.

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http://dx.doi.org/10.1111/jpc.12925DOI Listing
April 2016
17 Reads
1.193 Impact Factor

Griscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis

Turk J Haematol 2017 03 18;34(1):120-121. Epub 2016 Apr 18.

Abant İzzet Baysal University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, Bolu, Turkey Phone : +90 374 270 45 75-3463 E-mail:

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http://dx.doi.org/10.4274/Tjh.2015.0416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451681PMC
March 2017
52 Reads

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.

J Allergy Clin Immunol 2016 08 23;138(2):599-601.e3. Epub 2016 Mar 23.

Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.12.1337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976026PMC
August 2016
39 Reads