357 results match your criteria Griscelli Syndrome


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
April 2019
1 Read

Myosin Va and spermine synthase: partners in exosome transport.

Authors:
David J Timson

Biosci Rep 2019 Apr 9. Epub 2019 Apr 9.

School of Pharmacy and Biomolecular Sciences, The University of Brighton, Huxley Building, Lewes Road, Brighton, BN2 4GJ, United Kingdom

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
April 2019
2 Reads

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

Traffic 2019 Apr 4. Epub 2019 Apr 4.

Dept. of Pathology & Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA 19104.

Lysosome-related organelles 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, morphology, 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 that 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 lysosome-related organelles 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

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

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 Feb 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
February 2019
6 Reads

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

Exp Hematol 2019 Mar 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
4 Reads

Selective rickets from localized advanced maturation-a case report.

Authors:
Alan E Oestreich

Skeletal Radiol 2018 Nov 20. 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
November 2018
2 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
15 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
5 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
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
3 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
3 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
42 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
1 Read

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
36 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
12 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
7 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
54 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
5 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
5 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
16 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 2017
6 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
18 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
11 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
6 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
4 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
9 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
6 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
10 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
3 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
2 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
52 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
6 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
9 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
36 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
12 Reads

Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.

Exp Clin Transplant 2017 Jun 21;15(3):337-343. Epub 2016 Mar 21.

From the Department of Pediatric Immunology, and the Department of Pediatric Hematology and Oncology, Erciyes University School of Medicine, Kayseri, Turkey.

Objectives: The only curative treatment for many patients with primary immunodeficiency disease is hematopoietic stem cell transplant. In this study, we report the transplant outcomes of patients with primary immunodeficiency diseases.

Materials And Methods: Herein, we present the transplant outcomes of 20 patients with primary immunodeficiency disease seen at our center in Kayseri, Turkey, from 2010 to 2015. Read More

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http://dx.doi.org/10.6002/ect.2015.0233DOI Listing
June 2017
11 Reads

Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.

Indian J Pathol Microbiol 2016 Jan-Mar;59(1):113-6

Department of Pathology, Rangaraya Medical College, Kakinada, Andhra Pradesh, India.

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Read More

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http://dx.doi.org/10.4103/0377-4929.178230DOI Listing
January 2017
6 Reads

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

Indian J Pathol Microbiol 2016 Jan-Mar;59(1):110-2

Department of Pediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India.

Griscelli syndrome (GS) is a rare autosomal recessive immunodeficiency disorder in which the affected children present with characteristic silvery-white hairs. The hair microscopy of these children is characteristic and is helpful in differentiating GS from Chediak-Higashi syndrome which also presents with immunodeficiency and silver hairs. We report a 17-month-old boy with GS type 2 who presented with severe anemia. Read More

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http://dx.doi.org/10.4103/0377-4929.178228DOI Listing
January 2017
4 Reads

Optimization of cerebellar purkinje neuron cultures and development of a plasmid-based method for purkinje neuron-specific, miRNA-mediated protein knockdown.

Methods Cell Biol 2016 2;131:177-97. Epub 2015 Sep 2.

Cell Biology and Physiology Center, National Heart, Lung Blood Institute, National Institutes of Health, MD, USA.

We present a simple and efficient method to knock down proteins specifically in Purkinje neurons (PN) present in mixed mouse primary cerebellar cultures. This method utilizes the introduction via nucleofection of a plasmid encoding a specific miRNA downstream of the L7/Pcp2 promoter, which drives PN-specific expression. As proof-of-principle, we used this plasmid to knock down the motor protein myosin Va, which is required for the targeting of smooth endoplasmic reticulum (ER) into PN spines. Read More

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http://dx.doi.org/10.1016/bs.mcb.2015.06.004DOI Listing
October 2016
6 Reads

Cutaneous granulomas in Griscelli type 2 syndrome.

Int J Dermatol 2016 Jul 23;55(7):804-805. Epub 2015 Dec 23.

Hospital Roberto del Río, Santiago, Chile.

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http://dx.doi.org/10.1111/ijd.13147DOI Listing
July 2016
5 Reads

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

Int J Trichology 2015 Jul-Sep;7(3):133-5

Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India.

Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Read More

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http://dx.doi.org/10.4103/0974-7753.167462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639960PMC
December 2015
7 Reads

Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.

Pediatr Dermatol 2015 Nov-Dec;32(6):e245-8. Epub 2015 Sep 4.

Department of Dermatology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

A 3-year-old Arab boy with a history of hypoplastic left heart syndrome was referred to the pediatric dermatology clinic at Sheba Medical Center for evaluation of hypomelanosis, manifested by fair skin pigmentation and silvery-grey hair, eyebrows, and eyelashes. The child had one older brother with similar hypopigmentation and another older brother who had died of congenital heart disease. The child had no history of neurologic deficits or immunodeficiency and no additional findings on clinical evaluation. Read More

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http://dx.doi.org/10.1111/pde.12663DOI Listing
September 2016
16 Reads

Genomic instability of human embryonic stem cell lines using different passaging culture methods.

Mol Cytogenet 2015 23;8:30. Epub 2015 Apr 23.

AP-HP, Histologie-Embryologie-Cytogénétique, Hôpitaux Universitaires Paris Sud, Clamart, F-92141 France ; Université Paris Sud, Le Kremlin-Bicêtre, F-94275 France ; Esteam Paris Sud INSERM UMR-S 935, Villejuif, F-94801 France.

Background: Human embryonic stem cells exhibit genomic instability that can be related to culture duration or to the passaging methods used for cell dissociation. In order to study the impact of cell dissociation techniques on human embryonic stem cells genomic instability, we cultured H1 and H9 human embryonic stem cells lines using mechanical/manual or enzymatic/collagenase-IV dissociation methods. Genomic instability was evaluated at early (p60) passages by using oligonucleotide based array-comparative genomic hybridization 105 K with a mean resolution of 50 Kb. Read More

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http://dx.doi.org/10.1186/s13039-015-0133-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4456787PMC
June 2015
37 Reads

Genodermatoses.

J Pharm Bioallied Sci 2015 Apr;7(Suppl 1):S203-6

Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.

Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Read More

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http://dx.doi.org/10.4103/0975-7406.155903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439671PMC
April 2015
3 Reads

Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.

J Coll Physicians Surg Pak 2015 Apr;25 Suppl 1:S43-4

Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Rawalpindi.

Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Read More

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http://dx.doi.org/04.2015/JCPSP.S43S44DOI Listing
April 2015
42 Reads
0.320 Impact Factor

Seizure as the presenting manifestation in Griscelli syndrome type 2.

Pediatr Neurol 2015 May 26;52(5):535-8. Epub 2015 Jan 26.

Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Background: Griscelli syndrome is an autosomal recessive disease that is characterized by hypopigmentation of the skin and hair, presence of large clumps of pigment in hair shafts, and accumulation of melanosomes in melanocytes; it resembles Chediak-Higashi syndrome. Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and has predominant immunologic abnormalities.

Method: A retrospective case analysis highlighting neurological complications in an individual with Griscelli syndrome type 2. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.010DOI Listing
May 2015
9 Reads

Griscelli syndrome: a case report.

Iran J Child Neurol 2014 ;8(4):72-5

Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.

Objective: Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307372PMC
February 2015
3 Reads

Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden.

Pediatr Blood Cancer 2015 02 8;62(2):346-352. Epub 2014 Nov 8.

Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.

Background: Primary hemophagocytic lymphohistiocytosis (HLH) represents a group of inherited hyperinflammatory immunodeficiencies, including familial HLH (FHL), Griscelli syndrome type 2 (GS2), and X-linked lymphoproliferative syndrome (XLP). We previously reported an annual incidence of suspected primary HLH in Sweden 1971-1986 of 0.12 per 100,000 children. Read More

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http://dx.doi.org/10.1002/pbc.25308DOI Listing
February 2015
13 Reads

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.

Blood 2015 Mar 6;125(10):1566-77. Epub 2015 Jan 6.

Department of Pathology and Laboratory Medicine, and.

Familial hemophagocytic lymphohistiocytosis (F-HLH) and Griscelli syndrome type 2 (GS) are life-threatening immunodeficiencies characterized by impaired cytotoxic T lymphocyte (CTL) and natural killer (NK) cell lytic activity. In the majority of cases, these disorders are caused by biallelic inactivating germline mutations in genes such as RAB27A (GS) and PRF1, UNC13D, STX11, and STXBP2 (F-HLH). Although monoallelic (ie, heterozygous) mutations have been identified in certain patients, the clinical significance and molecular mechanisms by which these mutations influence CTL and NK cell function remain poorly understood. Read More

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http://dx.doi.org/10.1182/blood-2014-11-610816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351505PMC
March 2015
42 Reads
14 Citations
10.452 Impact Factor