663 results match your criteria Griscelli Syndrome


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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November 2018
1 Read

[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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December 2018
5 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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November 2018
1 Read

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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November 2018
3 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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December 2018

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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August 2018
2 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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June 2018
28 Reads

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation.

Stem Cell Res 2018 May 7;29:56-59. Epub 2018 Mar 7.

ESTeam Paris Sud, INGESTEM National IPSC Infrastructure, UPSud, Paris-Saclay University, Villejuif 94800, France; UMR-S 935, INSERM, University Paris Sud, Villejuif 94800, France; Division of Hematology, APHP-Paris Sud University, Le Kremlin Bicêtre 94275, Villejuif 94800, France; Paris Sud University, UPsud, Faculty of Medicine, Le Kremlin Bicêtre 94275, France.

Heterozygous non-synonymous (p.S142F) mutation in HNF1A leads to maturity-onset diabetes of the young (MODY) type 3, which is a subtype of dominant inherited young-onset non-autoimmune diabetes due to the defect of insulin secretion from pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with HNF1A p. Read More

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May 2018
36 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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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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January 2018
30 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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November 2017
11 Reads

Generation of induced pluripotent stem cell (iPSC) line from a patient with triple negative breast cancer with hereditary exon 17 deletion of BRCA1 gene.

Stem Cell Res 2017 10 14;24:135-138. Epub 2017 Sep 14.

ESTeam Paris Sud, INGESTEM National IPSC Infrastructure, UPSud, Université Paris-Saclay, Villejuif 94800, France; UMR-S 935, INSERM, Université Paris Sud, Villejuif 94800, France; Division of Hematology, APHP-Paris Sud University hospital, Le Kremlin Bicêtre 94275, Villejuif 94800, France; University Paris Sud, Faculty of Medicine, Le Kremlin Bicêtre 94275, France.

BRCA1 germline mutation confers hereditary predisposition for breast and ovarian cancer. To understand the physiopathology of mammary and ovarian epithelial cancer transformation, and to identify early driver molecular events, we have generated an iPSC line from a patient carrying a germline exon 17 deletion in BRCA1 gene (BRAC1Ex17 iPSC) in a high-risk family context. Blood cells were reprogrammed used non-integrative virus of Sendaï. Read More

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October 2017
19 Reads

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation.

Stem Cell Res 2017 08 25;23:178-181. Epub 2017 Jul 25.

ESTeam Paris Sud, INGESTEM National IPSC Infrastructure, UPSud, Université Paris-Saclay, 94800 Villejuif, France; Division of Hematology, APHP-Paris Sud University hospitals, Le Kremlin Bicêtre 94275 and Villejuif, 94800, France; Division of Hematology, APHP-Paris Sud University Hospitals, Le Kremlin Bicêtre 94275, France; University Paris Sud, UPsud, Faculty of Medicine, Le Kremlin Bicêtre 94275, France.

Heterozygous activating mutation (p.Glu227Lys) in KCNJ11 leads to maturity-onset diabetes of the young (MODY) type 13, that is a subtype of dominant inherited young-onset non-autoimmune diabetes due to a primary defect in pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with KCNJ11 mutation who developed MODY at 13years old. Read More

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August 2017
27 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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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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November 2017
41 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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September 2017
4 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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August 2017
4 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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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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July 2017
3 Reads

Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia.

Exp Hematol 2017 09 8;53:48-58. Epub 2017 Jun 8.

Institut National de la Santé et de la Recherche Médicale (INSERM) U935, Villejuif, France; Service d'Hématologie Biologique, Institut Federatif d'Hematologie Interpôle Paris Sud-IFHIPS (AP-HP) Kremlin Bicêtre, Paris, France; Université Paris-Sud, Faculté de Médecine Kremlin Bicêtre, and INSERM UMS 33, Villejuif, France; Human Pluripotent Stem Cell Core Facility, ESTeam Paris Sud-INGESTEM, Villejuif, France. Electronic address:

We report here the first use of whole-genome sequencing (WGS) to examine the initial clonal dynamics in an unusual patient with chronic myeloid leukemia (CML), who presented in chronic phase (CP) with doubly marked BCR-ABL1/JAK2-mutant cells and, over a 9-year period, progressed into an accelerated phase (AP) and then terminal blast phase (BP). WGS revealed that the diagnostic cells also contained mutations in ASXL1, SEC23B, MAD1L1, and RREB1 as well as 12,000 additional uncommon DNA variants. WGS of endothelial cells generated from circulating precursors revealed many of these were shared with the CML clone. Read More

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September 2017
44 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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October 2017
14 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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August 2017
10 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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February 2017
5 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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January 2017
3 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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December 2016
4 Reads

Generation of an induced pluripotent stem cell line from a patient with chronic myeloid leukemia (CML) resistant to targeted therapies.

Stem Cell Res 2016 09 4;17(2):235-237. Epub 2016 Aug 4.

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:

Chronic myeloid leukemia (CML) is a clonal malignancy initiated by the occurrence of a t (9;22) translocation, generating Ph1 chromosome and BCR-ABL oncogene in a primitive hematopoietic stem cell (HSC). The resistance of HSC to targeted therapies using tyrosine kinase inhibitors remains a major obstacle towards the cure. We have generated an iPSC line from a patient with CML using leukemic CD34+ cells cryopreserved at diagnosis. Read More

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September 2016
3 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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September 2017
4 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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July 2016
8 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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October 2016
2 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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April 2017
1 Read

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
29 Reads

Non integrative strategy decreases chromosome instability and improves endogenous pluripotency genes reactivation in porcine induced pluripotent-like stem cells.

Sci Rep 2016 06 1;6:27059. Epub 2016 Jun 1.

INRA, UMR 1388 Génétique, Physiologie et Systèmes d'Elevage, F-31326 Castanet-Tolosan, France.

The pig is an emerging animal model, complementary to rodents for basic research and for biomedical and agronomical purposes. However despite the progress made on mouse and rat models to produce genuine pluripotent cells, it remains impossible to produce porcine pluripotent cell lines with germline transmission. Reprogramming of pig somatic cells using conventional integrative strategies remains also unsatisfactory. Read More

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June 2016
21 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
4 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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April 2016
8 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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March 2017
24 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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August 2016
8 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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June 2017
9 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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January 2017
5 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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January 2017
3 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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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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July 2016
4 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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December 2015
4 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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September 2016
7 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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June 2015
27 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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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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April 2015
27 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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May 2015
8 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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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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February 2015
12 Reads