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    332 results match your criteria Griscelli Syndrome

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    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 MYO5A, RAB27A, MLPH 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

    "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

    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

    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

    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 Jun 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

    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

    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

    Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.
    Exp Clin Transplant 2016 Mar 21. 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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden.
    Pediatr Blood Cancer 2015 Feb 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

    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

    Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2).
    Ann Hematol 2015 Jun 30;94(6):1057-60. Epub 2014 Dec 30.
    Department of Hematology and Oncology, Schwarzwald-Baar Clinic, Academic Teaching Hospital University of Freiburg, Klinikstr. 11, 78052, Villingen-Schwenningen, Germany,

    Griscelli syndrome.
    Med J Malaysia 2014 Aug;69(4):193-4
    University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia.
    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Read More

    A case of Griscelli syndrome.
    Dermatol Online J 2014 Nov 15;20(11). Epub 2014 Nov 15.
    The Mission Hospital, Durgapur, West Bengal, India.
    A hallmark of Griscelli syndrome, a rare autosomal recessive disorder, is hair hypopigmentation characterized by a silver-gray sheen and the presence of large clusters of pigment unevenly distributed in the hair shaft. Either a primary neurological impairment or immune abnormalities are associated with this phenotype. We report the case of a 10-year-old child of consanguineous parents. Read More

    Cerebellar involvement of Griscelli syndrome type 2.
    BMJ Case Rep 2014 Oct 14;2014. Epub 2014 Oct 14.
    Department of Pediatric Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.
    Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of Griscelli syndrome type 2 in the literature. Read More

    Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
    J Allergy Clin Immunol 2015 May 11;135(5):1310-8.e1. Epub 2014 Oct 11.
    Pediatric Oncology Network, Istituto Toscano Tumori (I.T.T.), Florence, Italy. Electronic address:
    Background: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and often fatal disorder characterized by defective cellular cytotoxicity and hyperinflammation, and the only cure known to date is hematopoietic stem cell transplantation. Mutations in RAB27A, LYST, and AP3B1 give rise to FHL associated with oculocutaneous albinism, and patients with FHL are usually only screened for mutations in these genes when albinism is observed. A number of patients with FHL and normal pigmentation remain without a genetic diagnosis. Read More

    [Hypomelanoses transmitted from generation to generation].
    Postepy Hig Med Dosw (Online) 2014 Sep 3;68:1081-90. Epub 2014 Sep 3.
    Śląski Uniwersytet Medyczny w Katowicach, Wydział Farmaceutyczny z Oddziałem Medycyny Laboratoryjnej, Katedra i Zakład Chemii i Analizy Leków.
    Inherited diseases of pigmentation were among the first traits studied in humans because of their easy recognition. This article presents selected hypopigmentary disorders, which can be divided into hypomelanocytoses and hypomelanoses. Hereditary hypomelanoses are caused by abnormal melanin biosynthesis as well as by abnormal transfer of mature melanosomes to melanocyte dendrites and to neighboring cells. Read More

    Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn.
    J Pediatr Hematol Oncol 2015 May;37(4):300-3
    *Departments of Pediatrics, Duke University Medical Center, Durham, NC †Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA ‡Department of Pediatrics, Rady Children's Hospital, San Diego, CA.
    Hemophagocytic lymphohistiocytosis (HLH) is a disease caused by dysregulation and hyperactivation of the immune system, and can be familial or acquired. HLH presenting in infancy can be rapidly fatal if not promptly recognized and treated. Congenital HLH can be caused by various genetic mutations or part of immunodeficiency syndromes. Read More

    An Indian boy with griscelli syndrome type 2: case report and review of literature.
    Indian J Dermatol 2014 Jul;59(4):394-7
    Department of Women's and Children's Health, Childhood Cancer Research Unit, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.
    Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight diagnostic difficulties in such cases in developing countries like ours where pigmentary changes in hair and skin are commonly attributed to severe malnutrition. Read More

    A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3.
    Dermatol Online J 2014 Jul 15;20(7). Epub 2014 Jul 15.
    Pt BDS PGIMS, Rohtak, Haryana, India.
    Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin (partial albinism). Three different types (1-3) caused by mutation in three different genes have been described. Patients with GS type 1 have primary central nervous system dysfunction; type 2 patients commonly develop hemophagocytic lymphohistiocytosis and type 3 patients present with partial albinism only. Read More

    Acute Phase Reaction after Femur Fracture in a Child with Griscelli Syndrome.
    Turk J Anaesthesiol Reanim 2014 Jun 11;42(3):154-7. Epub 2014 Mar 11.
    Department of Anaesthesiology and Reanimation, Gazi University Faculty of Medicine, Ankara, Turkey.
    Griscelli syndrome (GS) is an autosomal recessive disorder that is characterized by partial albinism of the skin and hair shaft. Prompt and early diagnosis is a crucial step for the follow up and management of GS, which would otherwise dramatically decrease the life expectancy of the patients. This case report presents the clinical course of a femoral fracture treated with closed reduction and pelvic-pedal cast, and progression of acute phase reaction during the follow up period. Read More

    Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.
    Nat Commun 2014 Apr 11;5:3540. Epub 2014 Apr 11.
    Centre for Stem Cells and Regenerative Medicine, King's College London, Guy's Hospital, London SE1 9RT, UK.
    Permanent stop-and-shop large-scale mouse mutant resources provide an excellent platform to decipher tissue phenogenomics. Here we analyse skin from 538 knockout mouse mutants generated by the Sanger Institute Mouse Genetics Project. We optimize immunolabelling of tail epidermal wholemounts to allow systematic annotation of hair follicle, sebaceous gland and interfollicular epidermal abnormalities using ontology terms from the Mammalian Phenotype Ontology. Read More

    Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis.
    Neurology 2014 Apr;82(14):e122-3
    From the Unit of Pediatric Neurology and Neurodevelopment (A.G.S., P.S.), Department of Pediatrics (S.N., J.K.S., A.R.), and Department of Radiodiagnosis (S.V.), Postgraduate Institute of Medical Education and Research, Chandigarh, India.
    A 3-year-old boy developed viral illness followed by fever, altered sensorium, focal seizures, and neuroregression. Examination showed silvery-gray hair (figure 1A), bilateral papilledema, spastic quadriparesis, brisk muscle-stretch reflexes, extensor plantars, hepatosplenomegaly, and normally pigmented skin, iris, and retina. Hair microscopy confirmed Griscelli syndrome (GS) (figure 1, B-D). Read More

    Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum.
    Korean J Pediatr 2014 Feb 24;57(2):91-5. Epub 2014 Feb 24.
    Department of Pathology, G. B. Pant Hospital, New Delhi, India.
    Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. Read More

    Rab27a was identified as a prognostic biomaker by mRNA profiling, correlated with malignant progression and subtype preference in gliomas.
    PLoS One 2014 26;9(2):e89782. Epub 2014 Feb 26.
    Department of Neurosurgery, the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
    Purpose: Rab27a belongs to the Rab small GTPase superfamily. The protein is membrane-bound and may be involved in protein transport and small GTPase-mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Read More

    The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag.
    J Biol Chem 2014 Apr 28;289(16):11059-67. Epub 2014 Feb 28.
    From the Laboratory of Membrane Trafficking Mechanisms, Department of Developmental Biology and Neurosciences, Graduate School of Life Sciences, Tohoku University, Aobayama, Aoba-ku, Sendai, Miyagi 980-8578, Japan.
    The small GTPase Rab27A is a crucial regulator of actin-based melanosome transport in melanocytes, and functionally defective Rab27A causes human Griscelli syndrome type 2, which is characterized by silvery hair. A GTPase-deficient, constitutively active Rab27A(Q78L) mutant has been shown to act as an inhibitor of melanosome transport and to induce perinuclear aggregation of melanosomes, but the molecular mechanism by which Rab27A(Q78L) inhibits melanosome transport remained to be determined. In this study, we attempted to identify the primary cause of the perinuclear melanosome aggregation induced by Rab27A(Q78L). Read More

    Hemophagocytic lymphohistiocytosis in infants: a single center experience from India.
    Pediatr Hematol Oncol 2014 Apr 2;31(3):285-92. Epub 2014 Jan 2.
    1Pediatric Hematology Oncology & Bone Marrow Transplant Unit, Department of Pediatrics, Institute of Child Health, Sir Ganga Ram Hospital , Old Rajinder Nagar, New Delhi , India.
    There is paucity of outcome data for hemophagocytic lymphohistiocytosis (HLH) in infants from India, especially post stem cell transplant (SCT). We report outcome data of eight infants diagnosed with HLH. Mean age was 7. Read More

    Spectrum of primary immunodeficiency disorders in Sri Lanka.
    Allergy Asthma Clin Immunol 2013 Dec 27;9(1):50. Epub 2013 Dec 27.
    Department of Immunology, Medical Research Institute, Colombo 08, Sri Lanka.
    Background: While primary immunodeficiencies (PID has been recognized in the west for decades, recognition has been delayed in the third world. This study attempts to detail the spectrum of PID, the therapy provided, and constraints in the diagnosis and treatment in a middle income country such as Sri Lanka.

    Methods: Nine hundred and forty two patients with recurrent infections and features suggestive of immune deficiency, referred from the entire country in a 4 year period, to the sole immunology unit in Sri Lanka were included. Read More

    A frameshift mutation in the melanophilin gene causes the dilute coat colour in rabbit (Oryctolagus cuniculus) breeds.
    Anim Genet 2014 Apr 10;45(2):248-55. Epub 2013 Dec 10.
    Division of Animal Sciences, Department of Agricultural and Food Sciences (DISTAL), University of Bologna, Viale Fanin 46, 40127, Bologna, Italy; Centre for Genome Biology, University of Bologna, 40126, Bologna, Italy.
    In rabbit, the dilute locus is determined by a recessive mutated allele (d) that causes the dilution of both eumelanic and pheomelanic pigmentations. In mice, similar phenotypes are determined by mutations in the myosin VA, Rab27a and melanophilin (MLPH) genes. In this study, we investigated the rabbit MLPH gene and showed that a mutation in this gene appears responsible for the dilute coat colour in this species. Read More

    Successful treatment of severe myasthenia gravis developed after allogeneic hematopoietic stem cell transplantation with plasma exchange and rituximab.
    Pediatr Blood Cancer 2014 May 18;61(5):928-30. Epub 2013 Oct 18.
    Division of Pediatric Hematology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
    Myasthenia gravis is among the rare complications after allogeneic hematopoietic stem cell transplantation and is usually associated with chronic GVHD. Herein, we report a 2-year and 10 months of age female with Griscelli syndrome, who developed severe myasthenia gravis at post-transplant +22nd month and required respiratory support with mechanical ventilation. She was unresponsive to cyclosporine A, methylprednisolone, intravenous immunoglobulin, and mycophenolate mofetil and the symptoms could only be controlled after plasma exchange and subsequent use of rituximab, in addition to cyclosporine A and mycophenolate mofetil maintenance. Read More

    Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.
    Orphanet J Rare Dis 2013 Oct 17;8:168. Epub 2013 Oct 17.
    Department of Experimental and Clinical Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy.
    Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the biogenesis, function and trafficking of secretory lysosomes. Read More

    [A hemophagocytic syndrome revealing a Griscelli syndrome type 2].
    Ann Biol Clin (Paris) 2013 Jul-Aug;71(4):461-4
    Service d'hématologie clinique, Hôpital militaire d'instruction Mohammed V, Rabat, Maroc.
    Griscelli syndrome type 2 is a rare autosomal recessive disorder, due to a mutation in RAB27A gene. It associates partial albinism, silver hair and immune deficiency. We report the case of a 6 year-old boy who was admitted to the Emergency department with severe sepsis complicated by hemophagocytic syndrome. Read More

    Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.
    Exp Cell Res 2013 Sep 26;319(15):2360-7. Epub 2013 Jun 26.
    Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD 20852, USA.
    A fully functional immune system is essential to protect the body against pathogens and other diseases, including cancer. Vesicular trafficking provides the correct localization of proteins within all cell types, but this process is most exquisitely controlled and coordinated in immune cells because of their specialized organelles and their requirement to respond to selected stimuli. More than 60 Rab GTPases play important roles in protein trafficking, but only five Rab-encoding genes have been associated with inherited human disorders, and only one of these (Rab27a) causes an immune defect. Read More

    Structural basis of cargo recognitions for class V myosins.
    Proc Natl Acad Sci U S A 2013 Jul 24;110(28):11314-9. Epub 2013 Jun 24.
    Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Kowloon, Hong Kong, China.
    Class V myosins (MyoV), the most studied unconventional myosins, recognize numerous cargos mainly via the motor's globular tail domain (GTD). Little is known regarding how MyoV-GTD recognizes such a diverse array of cargos specifically. Here, we solved the crystal structures of MyoVa-GTD in its apo-form and in complex with two distinct cargos, melanophilin and Rab interacting lysosomal protein-like 2. Read More

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