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chediak-higashi syndrome

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https://www.readbyqxmd.com/read/27881733/lysosomal-trafficking-regulator-lyst-links-membrane-trafficking-to-toll-like-receptor-mediated-inflammatory-responses
#1
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...
November 23, 2016: 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
#2
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
#3
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...
September 26, 2016: 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
#4
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...
August 1, 2016: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/27416089/spontaneous-repigmentation-of-silvery-hair-in-an-infant-with-congenital-hydrops-fetalis-and-hypoproteinemia
#5
Javier Galve, Ana Martín-Santiago, Carmen Clavero, Carlos Saus, Ramona Alfaro-Arenas, Angeles Pérez-Granero, Pere R Balliu, Juan Ferrando
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...
June 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/27093962/chediak-higashi-syndrome-in-accelerated-phase-mascquerading-as-acute-leukemia
#6
Mili Jain, Ashutosh Kumar, Shankar Uma Singh, Rashmi Kushwaha
No abstract text is available yet for this article.
April 18, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/26960654/severe-anemia-due-to-parvovirus-b19-in-a-silver-haired-boy
#7
Nishant Verma, Archana Kumar, Rashmi Kushwaha
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. Bone marrow examination of the child suggested parvovirus B19 as the cause of severe anemia, which was later confirmed by DNA polymerase chain reaction...
January 2016: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/26816903/accelerated-phase-of-chediak-higashi-syndrome-at-initial-presentation-a-case-report-of-an-uncommon-occurrence-in-a-rare-disorder
#8
Pooja Jaiswal, Yogesh Kumar Yadav, Nilam Bhasker, Rashmi Kushwaha
Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an accelerated lymphohistiocytic phase. Accelerated phase at initial presentation is rarely seen as it is usually preceded by repeated episodes of infections. Hence this interesting case of a four-month-old Indian child born to consanguineous parents in accelerated phase at initial presentation is described...
December 2015: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/26622160/silvery-hair-with-speckled-dyspigmentation-chediak-higashi-syndrome-in-three-indian-siblings
#9
Chekuri Raghuveer, Sambasiviah Chidambara Murthy, Mallur N Mithuna, Tamraparni Suresh
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. Clinical features, laboratory investigations, hair microscopy, and skin biopsy findings were consistent with CHS...
July 2015: International Journal of Trichology
https://www.readbyqxmd.com/read/26604520/premature-loss-of-primary-teeth-with-gingival-erythema-an-alert-to-dentist
#10
Anju Devi, Anjali Narwal, Achla Bharti, Vinay Kumar
Premature exfoliation of primary teeth is an important diagnostic event warranting urgent investigation. The majority of conditions presenting with early loss of teeth are serious and in some cases could be fatal. The most common causes of premature tooth loss are Papillion-Lefevre syndrome, Chediak-Higashi syndrome, hypophosphatasia, neutropenia, leukemia and in some cases Langerhans cell histiocytosis (LCH). LCH is a disorder of unknown cause, characterized by abnormal proliferation of histiocytes. The disease has a predilection for children, although LCH may occur in adults...
May 2015: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/26538743/chediak-higashi-syndrome-a-case-series-from-karnataka-india
#11
Pradeep Rudramurthy, Hemalata Lokanatha
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granulecontaining cells. The abnormal granules are readily seen in blood and marrow granulocytes. Other clinical features include silvery hair, photophobia, nystagmus and hepatosplenomegaly. However, the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors are diagnostic of CHS...
September 2015: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/26530488/-differential-diagnostics-of-hypomelanoses
#12
M Böhm
Hypomelanoses of the skin encompass a wide spectrum of congenital and acquired alterations in melanin pigmentation. These diseases can be localized or universal. The pathobiology of cutaneous hypomelanoses is heterogeneous and includes defects in melanoblast migration from the neural crest to the epidermis, alterations in melanogenesis and melanin transfer to keratinocytes, and destruction of pigment cells by autoimmune and inflammatory processes. Importantly, some congenital forms of universal hypomelanoses are associated with involvement of internal organs (e...
December 2015: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/26511512/allogeneic-hematopoietic-stem-cell-transplantation-for-chediak-higashi-syndrome
#13
Katsutsugu Umeda, Souichi Adachi, Yasuo Horikoshi, Kohsuke Imai, Kiminori Terui, Mikiya Endo, Tetsuo Mitsui, Keisuke Kato, Katsuyoshi Koh, Ryosuke Kajiwara, Rieko Ito, Yoshitoshi Otsuka, Masami Inoue, Eiichi Ishii, Hiromasa Yabe
The clinical outcome of allogeneic HSCT was retrospectively analyzed in eight patients with CHS. In total, six of these eight patients are alive. Four of five patients transplanted with MAC achieved prompt engraftment, and three of the four patients, including two patients with AP before transplant, are alive without disease. In contrast, three patients transplanted with RIC without active AP disease achieved prompt engraftment and survive long term. RIC-HSCT might be an alternative treatment for CHS similar to other types of HLH, at least for patients without active AP disease...
March 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/26499269/a-clinical-report-of-chediak-higashi-syndrome-in-infancy-with-a-novel-genotype-from-the-indian-subcontinent
#14
Ankur Singh, Melanie M Bryan, Joseph C Roney, Andrew R Cullinane, William A Gahl, Nita Khurana, Seema Kapoor
Chediak-Higashi syndrome (CHS; OMIM no. 214500) is an inherited multisystem disorder presenting with hypopigmentation and a propensity to infections due to immunological dysfunction. CHS generally presents in infancy with a fatal outcome, but less severe cases can present in adulthood. Treatment with bone marrow transplantation can be life-saving, so establishing a correct diagnosis is critical. The presence of large granules on examination of peripheral blood smears is suggestive of the diagnosis of CHS in most centers...
March 2016: International Journal of Dermatology
https://www.readbyqxmd.com/read/26478006/chediak-higashi-syndrome-lysosomal-trafficking-regulator-domains-regulate-exocytosis-of-lytic-granules-but-not-cytokine-secretion-by-natural-killer-cells
#15
Aleksandra Gil-Krzewska, Stephanie M Wood, Yousuke Murakami, Victoria Nguyen, Samuel C C Chiang, Andrew R Cullinane, Giovanna Peruzzi, William A Gahl, John E Coligan, Wendy J Introne, Yenan T Bryceson, Konrad Krzewski
BACKGROUND: Mutations in lysosomal trafficking regulator (LYST) cause Chediak-Higashi syndrome (CHS), a rare immunodeficiency with impaired cytotoxic lymphocyte function, mainly that of natural killer (NK) cells. Our understanding of NK cell function deficiency in patients with CHS and how LYST regulates lytic granule exocytosis is very limited. OBJECTIVE: We sought to delineate cellular defects associated with LYST mutations responsible for the impaired NK cell function seen in patients with CHS...
April 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/26427484/lysosomal-trafficking-regulator-lyst
#16
Xiaojie Ji, Bo Chang, Jürgen K Naggert, Patsy M Nishina
Regulation of vesicle trafficking to lysosomes and lysosome-related organelles (LROs) as well as regulation of the size of these organelles are critical to maintain their functions. Disruption of the lysosomal trafficking regulator (LYST) results in Chediak-Higashi syndrome (CHS), a rare autosomal recessive disorder characterized by oculocutaneous albinism, prolonged bleeding, severe immunodeficiency, recurrent bacterial infection, neurologic dysfunction and hemophagocytic lympohistiocytosis (HLH). The classic diagnostic feature of the syndrome is enlarged LROs in all cell types, including lysosomes, melanosomes, cytolytic granules and platelet dense bodies...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/26307451/optic-neuropathy-in-late-onset-neurodegenerative-ch%C3%A3-diak-higashi-syndrome
#17
Ninad Desai, James D Weisfeld-Adams, Scott E Brodie, Catherine Cho, Christine A Curcio, Fred Lublin, Janet C Rucker
BACKGROUND: The classic form of Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder of lysosomal trafficking with childhood onset caused by mutations in ITALIC! LYST, is typified ophthalmologically by ocular albinism with vision loss attributed to foveal hypoplasia or nystagmus. Optic nerve involvement and ophthalmological manifestations of the late-onset neurodegenerative form of CHS are rarely reported and poorly detailed. METHODS: Case series detailing ophthalmological and neurological findings in three adult siblings with the late-onset form of CHS...
May 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/26254864/chediak-higashi-syndrome-presenting-in-accelerated-phase-a-case-report-and-literature-review
#18
I Maaloul, J Talmoudi, I Chabchoub, L Ayadi, T H Kamoun, T Boudawara, C H Kallel, M Hachicha
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 2-year-old boy who presented in the accelerated phase of the disease...
June 2016: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/26058339/-chediak-higashi-syndrome-optical-microscopy-of-hair
#19
G Blasco-Morente, C Garrido-Colmenero, J Aneiros-Fernández, J Tercedor-Sánchez
No abstract text is available yet for this article.
January 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/25967956/a-severe-systemic-presentation-of-pigmented-villonodular-synovitis-in-a-child-with-underlying-chediak-higashi-syndrome
#20
Victoria L True, Fergal P Monsell, Tanya A Smith, Simon C Parke, David J Grier, Marion E Schneider, Colin G Steward
Pigmented villonodular synovitis (PVNS), a condition of synovial hyperproliferation that mostly affects large joints, is rare in children and conventionally lacks systemic symptoms. This report describes a complex paediatric patient who underwent bone marrow transplantation to control the accelerated phase of the Chediak-Higashi syndrome. Diffuse PVNS developed in one knee 2.75 years later. Progression of PVNS was accompanied by the development of severe systemic symptoms, which resolved rapidly following subtotal surgical debridement...
November 2015: Journal of Pediatric Orthopedics. Part B
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