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chediak-higashi syndrome

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https://www.readbyqxmd.com/read/29194041/rare-inclusion-bodies-within-monocytes-at-accelerated-phase-of-chediak-higashi-syndrome
#1
Yifeng Sun, Yanhui Li, Jihong Hao
No abstract text is available yet for this article.
December 1, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28944093/ypt4-and-lvs1-regulate-vacuolar-size-and-function-in-schizosaccharomyces-pombe
#2
Addison Rains, Yorisha Bryant, Kaitlyn A Dorsett, Austin Culver, Jamal Egbaria, Austin Williams, Matt Barnes, Raeann Lamere, Austin R Rossi, Stephanie C Waldrep, Caroline Wilder, Elliot Kliossis, Melanie L Styers
The yeast vacuole plays key roles in cellular stress responses. Here, we show that deletion of lvs1, the fission yeast homolog of the Chediak-Higashi Syndrome CHS1/LYST gene, increases vacuolar size, similar to deletion of the Rab4 homolog ypt4. Overexpression of lvs1-YFP rescued vacuolar size in ypt4Δ cells, but ypt4-YFP did not rescue lvs1Δ, suggesting that lvs1 may act downstream of ypt4. Vacuoles were capable of hypotonic shock-induced fusion and recovery in both ypt4Δ and lvs1Δ cells, although recovery may be slightly delayed in ypt4Δ...
2017: Cellular Logistics
https://www.readbyqxmd.com/read/28887433/the-neurobeachin-like-2-protein-regulates-mast-cell-homeostasis
#3
Sebastian Drube, Randy Grimlowski, Carsten Deppermann, Julia Fröbel, Florian Kraft, Nico Andreas, David Stegner, Jan Dudeck, Franziska Weber, Mandy Rödiger, Christiane Göpfert, Julia Drube, Daniela Reich, Bernhard Nieswandt, Anne Dudeck, Thomas Kamradt
The neurobeachin-like 2 protein (Nbeal2) belongs to the family of beige and Chediak-Higashi (BEACH) domain proteins. Loss-of-function mutations in the human NBEAL2 gene or Nbeal2 deficiency in mice cause gray platelet syndrome, a bleeding disorder characterized by macrothrombocytopenia, splenomegaly, and paucity of α-granules in megakaryocytes and platelets. We found that in mast cells, Nbeal2 regulates the activation of the Shp1-STAT5 signaling axis and the composition of the c-Kit/STAT signalosome. Furthermore, Nbeal2 mediates granule formation and restricts the expression of the transcription factors, IRF8, GATA2, and MITF as well as of the cell-cycle inhibitor p27, which are essential for mast cell differentiation, proliferation, and cytokine production...
October 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28762620/a-case-of-chediak-higashi-syndrome-presented-with-accelerated-phase-could-be-treated-effectively-by-unrelated-cord-blood-transplantation
#4
Yan Zhang, Zhiyong Gao, Xinjian Yu
CHS is a rare immunodeficiency syndrome with defects in the functions of cytotoxic cells and neutrophils. Approximately 85% of patients with CHS undergo an AP within the first decade, which is similar to FHLH. Chemotherapy could induce transient remission, but only allogeneic HCT could correct the underlying genetic defect and prevent relapse. We reported a case of CHS diagnosed at 19 months, who had an elder brother who had previously succumbed to the same disease. The little girl presented with severe AP manifestations including recurrent high fever, enlarged superficial lymph nodes, and extraordinary hepatosplenomegaly occupying the whole abdominal and pelvic cavity...
November 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28761265/light-microscopy-and-polarized-microscopy-a-dermatological-tool-to-diagnose-gray-hair-syndromes
#5
P L Chandravathi, Hetal Deepak Karani, Sirisha Rani Siddaiahgari, Lokesh Lingappa
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. Hence, to make a correct diagnosis and differentiate between CHS and GPS light microscopic examination of skin and hair shafts as well as peripheral blood smear evaluations should be done...
January 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/28734636/-clinical-and-genetic-aspects-of-albinism
#6
Benoit Arveiler, Eulalie Lasseaux, Fanny Morice-Picard
Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. It is characterized by ocular development anomalies and by a variable degree of hypopigmentation. Clinically, three forms of the disease are described: oculocutaneous, ocular and syndromic (Hermansky-Pudlak syndrome, Chediak-Higashi syndrome). Nineteen genes involved in the different types of albinism have been described so far...
July 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28458669/differences-in-granule-morphology-yet-equally-impaired-exocytosis-among-cytotoxic-t-cells-and-nk-cells-from-chediak-higashi-syndrome-patients
#7
Samuel C C Chiang, Stephanie M Wood, Bianca Tesi, Himmet Haluk Akar, Waleed Al-Herz, Sandra Ammann, Fatma Burcu Belen, Umran Caliskan, Zühre Kaya, Kai Lehmberg, Turkan Patiroglu, Huseyin Tokgoz, Ayşegül Ünüvar, Wendy J Introne, Jan-Inge Henter, Magnus Nordenskjöld, Hans-Gustaf Ljunggren, Marie Meeths, Stephan Ehl, Konrad Krzewski, Yenan T Bryceson
Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in LYST, resulting in enlarged lysosomal compartments in multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects in T cell-mediated cytotoxicity has been observed. The latter has been linked to the degree of HLH susceptibility. Since the discrepancies in NK cell- and T cell-mediated cellular cytotoxicity might result from differences in regulation of cytotoxic granule release, we here evaluated perforin-containing secretory lysosome size and number in freshly isolated lymphocytes from CHS patients and furthermore compared their exocytic capacities...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28456452/oral-mass-revealing-ch%C3%A3-diak-higashi-syndrome
#8
T Tsuji, Y Uemura, Y Nakamura, S Nonoyama
This case report describes common oral inflammatory findings leading to the identification of Chédiak-Higashi syndrome (CHS). A 15-year-old girl presented with an enlarging and painful mass on the upper lip. Two weeks after the initial visit, the mass showed further protrusion in the absence of fever. Magnetic resonance imaging revealed a well-circumscribed cystic lesion with a thick capsule, and suggested an abscess derived from the mucous cyst in the upper lip. Inflammation indices were not elevated; however neutrophils were significantly lower than the normal level...
September 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28404643/the-beach-containing-protein-wdr81-coordinates-p62-and-lc3c-to-promote-aggrephagy
#9
Xuezhao Liu, Yang Li, Xin Wang, Ruxiao Xing, Kai Liu, Qiwen Gan, Changyong Tang, Zhiyang Gao, Youli Jian, Shouqing Luo, Weixiang Guo, Chonglin Yang
Autophagy-dependent clearance of ubiquitinated and aggregated proteins is critical to protein quality control, but the underlying mechanisms are not well understood. Here, we report the essential role of the BEACH (beige and Chediak-Higashi) and WD40 repeat-containing protein WDR81 in eliminating ubiquitinated proteins through autophagy. WDR81 associates with ubiquitin (Ub)-positive protein foci, and its loss causes accumulation of Ub proteins and the autophagy cargo receptor p62. WDR81 interacts with p62, facilitating recognition of Ub proteins by p62...
May 1, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28404538/haematopoietic-stem-cell-transplantation-in-primary-immunodeficiency-patients-in-the-black-sea-region-of-turkey
#10
Alişan Yıldıran, Mehmet Halil Çeliksoy, Stephan Borte, Şükrü Nail Güner, Murat Elli, Tunç Fışgın, Emel Özyürek, Recep Sancak, Gönül Oğur
OBJECTIVE: Haematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. MATERIALS AND METHODS: We retrospectively reviewed paediatric cases that were diagnosed with primary immunodeficiencies and scheduled for haematopoietic stem cell transplantation. RESULTS: We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received haematopoietic stem cell transplantation...
April 13, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28357189/griscelli-syndrome-subtype-2-with-hemophagocytic-lympho-histiocytosis-a-case-report-and-review-of-literature
#11
Priyanka Minocha, Richa Choudhary, Anika Agrawal, Sadasivan Sitaraman
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. We hereby report a 20 month old male child presenting with silvery gray hair, hypomelanosis and features of hemophagocytosis...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28356055/a-genome-wide-association-study-reveals-a-locus-for-bilateral-iridal-hypopigmentation-in-holstein-friesian-cattle
#12
Anne K Hollmann, Martina Bleyer, Andrea Tipold, Jasmin N Neßler, Wilhelm E Wemheuer, Ekkehard Schütz, Bertram Brenig
BACKGROUND: Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, mutations only affecting pigmentation of coat color and eye have also been described. Herein 18 Holstein Friesian cattle affected by bicolored and hypopigmented irises have been investigated. RESULTS: Affected animals did not reveal any ophthalmological or neurological abnormalities besides the specific iris color differences. Coat color of affected cattle did not differ from controls...
March 29, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28355352/a-novel-frameshift-mutation-of-chediak-higashi-syndrome-and-treatment-in-the-accelerated-phase
#13
X L Wu, X Q Zhao, B X Zhang, F Xuan, H M Guo, F T Ma
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase...
March 23, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/28219570/living-donor-lung-transplantation-after-bone-marrow-transplantation-for-chediak-higashi-syndrome
#14
Tetsu Yamada, Toyofumi F Chen-Yoshikawa, Shigeharu Oh, Rieko Ito-Taniguchi, Fumiaki Gochi, Masaaki Sato, Akihiro Aoyama, Hiroshi Date
An 8-year-old girl with Chediak-Higashi syndrome (CHS) had pulmonary complications after hematopoietic stem cell transplantation (HSCT) for hemophagocytic lymphohistiocytosis (HLH) and eventually underwent single living-donor lobar lung transplantation (LDLLT). Electron micrographic findings showed vagus nerve tissue in extracted lung having granular inclusions, which are pathognomonic for CHS. Because her mother was the donor for both hematopoietic stem cell and lung transplantations, she was weaned from immunosuppression and is doing well 3 years after lung transplantation...
March 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28183707/ch%C3%A3-diak-higashi-syndrome-with-novel-gene-mutation
#15
Mostafa M Helmi, Maysa Saleh, Bushra Yacop, Doaa ElSawy
Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5-6 years. We report here a case of CHS in a boy aged 2½ years who presented to us with pneumonia which turned to be Chédiak-Higashi syndrome with a novel variant, not previously described in the literature, which is caused by mutations in the CHS1 gene.This case is reported for its novel mutation, and the absence of the accelerated phase until now...
February 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28145517/whole-genome-sequencing-identifies-novel-compound-heterozygous-lysosomal-trafficking-regulator-gene-mutations-associated-with-autosomal-recessive-chediak-higashi-syndrome
#16
Yaqiong Jin, Li Zhang, Senfen Wang, Feng Chen, Yang Gu, Enyu Hong, Yongbo Yu, Xin Ni, Yongli Guo, Tieliu Shi, Zigang Xu
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by varying degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. This syndrome is molecularly characterized by pathognomonic mutations in the LYST (lysosomal trafficking regulator). Using whole genome sequencing (WGS) we attempted to identify novel mutations of CHS based on a family of CHS with atypical symptoms. The two patients demonstrated a phenotypic constellation including partial oculocutaneous albinism, frequency upper respiratory infection or a marginal intelligence, without bleeding tendency and severe immunodeficiency...
February 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27881733/lysosomal-trafficking-regulator-lyst-links-membrane-trafficking-to-toll-like-receptor-mediated-inflammatory-responses
#17
Andreas Westphal, Weijia Cheng, Jinbo Yu, Guntram Grassl, Martina Krautkrämer, Otto Holst, Niko Föger, Kyeong-Hee Lee
Subcellular compartmentalization of receptor signaling is an emerging principle in innate immunity. However, the functional integration of receptor signaling pathways into membrane trafficking routes and its physiological relevance for immune responses is still largely unclear. In this study, using Lyst-mutant beige mice, we show that lysosomal trafficking regulator Lyst links endolysosomal organization to the selective control of toll-like receptor 3 (TLR3)- and TLR4-mediated proinflammatory responses. Consequently, Lyst-mutant mice showed increased susceptibility to bacterial infection and were largely resistant to endotoxin-induced septic shock...
January 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27816481/nk-cell-effector-functions-in-a-ch%C3%A3-diak-higashi-patient-undergoing-cord-blood-transplantation-effects-of-in-vitro-treatment-with-il-2
#18
Loredana Cifaldi, Rita Maria Pinto, Ippolita Rana, Maurizio Caniglia, Adriano Angioni, Stefano Petrocchi, Caterina Cancrini, Laura Cursi, Giuseppe Palumbo, Alessandra Zingoni, Angela Gismondi, Paolo Rossi, Angela Santoni, Cristina Cerboni
NK cell cytotoxicity in Chédiak-Higashi syndrome (CHS) is strongly impaired as lytic granules are not released upon NK-target cell contact, contributing to several defects typical of this severe immunodeficiency. Correction of NK cell defects in CHS should improve the outcome of hematopoietic stem-cell transplantation, proposed as therapy. We investigated NK cell functions in a CHS patient before and after cord-blood transplantation, and the ability of in vitro IL-2 treatment to restore them. Before the transplant, the strong defect in NK cell-mediated natural and antibody-dependent cytotoxicity, as well as in IFN-γ production, could be restored up to normal levels by in vitro IL-2 treatment...
November 2, 2016: Immunology Letters
https://www.readbyqxmd.com/read/27669550/inflammatory-demyelinating-neuropathy-heralding-accelerated-chediak-higashi-syndrome
#19
Ingrid Vasconcellos Faber, Joana Rosa Marques Prota, Alberto Rolim Muro Martinez, Anamarli Nucci, Iscia Lopes-Cendes, Marcondes Cavalcante França Júnior
INTRODUCTION: Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations. METHODS: We describe clinical, laboratory, electrophysiological, and genetic findings of a patient who developed an immune-mediated demyelinating neuropathy as the main clinical feature of CHS. RESULTS: The patient presented with subacute flaccid paraparesis, absent reflexes, and reduced vibration sense...
May 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/27492987/oral-rehabilitation-of-patients-with-chediak-higashi-syndrome-using-zygoma-and-root-form-implant-supported-fixed-prostheses-a-report-of-two-patients
#20
Fawaz Alzoubi, Edmond Bedrossian, Allen Wong
Chediak-Higashi syndrome (CH-S) is a rare genetic immunodeficiency disorder. Fewer than 500 individuals with CH-S have been reported worldwide in the past 20 years. The dental management of patients in whom CH-S has been diagnosed has been rarely reported and only in the form of a case report. All reports addressed the severe periodontal disease found in those patients, and most studies concluded that periodontal treatment had an unfavorable prognosis. As a result, complete edentulism at an early age because of severe periodontal disease is expected...
December 2016: Journal of Prosthetic Dentistry
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