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cyclic neutropenia

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https://www.readbyqxmd.com/read/29518426/cd40-ligand-deficiency-causes-functional-defects-of-peripheral-neutrophils-that-are-improved-by-exogenous-ifn-%C3%AE
#1
Otavio Cabral-Marques, Tabata Takahashi França, Ashraf Al-Sbiei, Lena Friederike Schimke, Taj Ali Khan, Claudia Feriotti, Tania Alves da Costa, Osvaldo Reis Junior, Cristina Worm Weber, Janaíra Fernandes Ferreira, Fabiola Scancetti Tavares, Claudia Valente, Regina Sumiko Watanabe Di Gesu, Asif Iqbal, Gabriela Riemekasten, Gustavo Pessini Amarante-Mendes, José Alexandre Marzagão Barbuto, Beatriz Tavares Costa-Carvalho, Paulo Vitor Soeiro Pereira, Maria J Fernandez-Cabezudo, Vera Lucia Garcia Calich, Luigi D Notarangelo, Troy R Torgerson, Basel K Al-Ramadi, Hans D Ochs, Antonio Condino-Neto
BACKGROUND: Patients with X-linked Hyper-IgM syndrome (X-HIGM) due to CD40 ligand (CD40L) deficiency often present episodic, cyclic or chronic neutropenia, suggesting abnormal neutrophil development in the absence of CD40L-CD40 interaction. However, even when not neutropenic and despite immunoglobulin (Ig) replacement therapy, CD40L-deficient patients are susceptible to life-threatening infections caused by opportunistic pathogens, suggesting impaired function of phagocytes and the need of novel therapeutic approaches...
March 5, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29517659/elane-gene-mutation-induced-cyclic-neutropenia-manifesting-as-recurrent-fever-with-oral-mucosal-ulcer-a-case-report
#2
Xin Chen, Wansheng Peng, Zhen Zhang, Yumeng Wu, Jiali Xu, Yan Zhou, Li Chen
BACKGROUND: Cyclic neutropenia (CyN) is a rare hematological disease. Herein, a CyN girl, aged 3 years and 2 months, with recurrent fever and oral mucosal ulcer caused by neutrophil elastase (ELANE) gene mutation is reported. CASE PRESENTATION: A 3 years and 2 months old girl presented with recurrent fever and oral mucosal ulcer for 1 year. Routine blood test revealed that her absolute neutrophil count repeatedly decreased (minimum 0. 04 × 10/L) every 21 days on an average...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29405299/adult-onset-primary-cyclic-autoimmune-neutropenia-a-case-report
#3
Tomohiro Yabushita, Nobuhiro Hiramoto, Yuichiro Ono, Satoshi Yoshioka, Shuhei Karakawa, Masao Kobayashi, Takayuki Ishikawa
BACKGROUND: A few cases of primary autoimmune neutropenia (AIN) have been reported in adults, but cyclic primary AIN, which is characterized by the periodic oscillation of neutrophils, is uncommon in adults. STUDY DESIGN AND METHODS: Herein, we report a 70-year-old man referred to our hospital with severe neutropenia and thrombocytopenia. He had experienced intermittent episodes of low-extremity purpura for the past 3 months, with cellulitis on the skin of the scalp 1 month previously...
February 5, 2018: Transfusion
https://www.readbyqxmd.com/read/29211670/long-term-effects-of-g-csf-therapy-in-cyclic-neutropenia
#4
LETTER
David C Dale, AudreyAnna Bolyard, Tracy Marrero, Vahagn Makaryan, MaryAnn Bonilla, Daniel C Link, Peter Newburger, Akiko Shimamura, Laurence A Boxer, Charles Spiekerman
New England Journal of Medicine, Volume 377, Issue 23, Page 2290-2292, December 2017.
December 7, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29192015/the-european-medicines-agency-review-of-panobinostat-farydak-for-the-treatment-of-adult-patients-with-relapsed-and-or-refractory-multiple-myeloma
#5
REVIEW
Kyriaki Tzogani, Paula van Hennik, Ita Walsh, Pieter De Graeff, Annika Folin, Jan Sjöberg, Tomas Salmonson, Jonas Bergh, Edward Laane, Heinz Ludwig, Christian Gisselbrecht, Francesco Pignatti
On August 28, 2015, a marketing authorization valid through the European Union was issued for panobinostat, in combination with bortezomib and dexamethasone, for the treatment of adult patients with relapsed and/or refractory multiple myeloma who have received at least two prior regimens including bortezomib and an immunomodulatory agent (IMiD).Panobinostat is an orally available histone deacetylase (HDAC) inhibitor that inhibits the enzymatic activity of HDAC proteins at nanomolar concentrations. HDAC proteins catalyze the removal of acetyl groups from the lysine residues of histones and some nonhistone proteins...
November 30, 2017: Oncologist
https://www.readbyqxmd.com/read/29166744/-cyclic-neutropenia-a-case-report-and-literatures-review
#6
Y Q Shao, Y Z Zheng
No abstract text is available yet for this article.
October 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29129703/identification-of-novel-mitochondrial-localization-signals-in-human-tafazzin-the-cause-of-the-inherited-cardiomyopathic-disorder-barth-syndrome
#7
Ana A Dinca, Wei-Ming Chien, Michael T Chin
Mutations in the gene tafazzin (TAZ) result in Barth syndrome (BTHS). Patients present with hypotonia, cyclic neutropenia, 3-methyglutaconic aciduria, and cardiomyopathy, which is the major cause of mortality. The recessive, X-linked TAZ gene encodes a mitochondrial membrane-associated phospholipid modifying enzyme, which adds unsaturated fatty acid species to monolysocardiolipin to generate mature cardiolipin in the mitochondrial membrane that is essential for mitochondrial morphology and function. To identify intrinsic mitochondrial localization sequences in the human TAZ protein, we made sequential TAZ peptide-eGFP fusion protein expression constructs and analyzed the localization of eGFP fluorescence by confocal microscopy...
January 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28754797/elastase-inhibitors-as-potential-therapies-for-elane-associated-neutropenia
#8
Vahagn Makaryan, Merideth L Kelley, Breanna Fletcher, Audrey Anna Bolyard, A Andrew Aprikyan, David C Dale
Mutations in ELANE , the gene for neutrophil elastase (NE), a protease expressed early in neutrophil development, are the most frequent cause of cyclic (CyN) and severe congenital neutropenia (SCN). We hypothesized that inhibitors of NE, acting either by directly inhibiting enzymatic activity or as chaperones for the mutant protein, might be effective as therapy for CyN and SCN. We investigated β-lactam-based inhibitors of human NE (Merck Research Laboratories, Kenilworth, NJ, USA), focusing on 1 inhibitor called MK0339, a potent, orally absorbed agent that had been tested in clinical trials and shown to have a favorable safety profile...
October 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28576353/reprint-of-heme-oxygenase-1-affects-granulopoiesis-in-mice-through-control-of-myelocyte-proliferation
#9
Karolina Bukowska-Strakova, Maciej Ciesla, Krzysztof Szade, Witold Norbert Nowak, Robert Straka, Agata Szade, Malgorzata Tyszka-Czochara, Karolina Najder, Anna Konturek, Maciej Siedlar, Jozef Dulak, Alicja Jozkowicz
Heme oxygenase-1 (HO-1) is stress-inducible, cytoprotective enzyme degrading heme to carbon monoxide (CO), biliverdin and Fe(2+). We showed that HO-1 knock-out mice (HO-1(-/-)) have a twofold higher level of granulocytes than wild type (WT) mice, despite decreased concentration of granulocyte colony-stimulating factor (G-CSF) in the blood and reduced surface expression of G-CSF receptor on the hematopoietic precursors. This suggests the effect of HO-1 on granulopoiesis. Here we aimed to determine the stage of granulopoiesis regulated by HO-1...
June 2017: Immunobiology
https://www.readbyqxmd.com/read/28289596/a-novel-intronic-splice-site-tafazzin-gene-mutation-detected-prenatally-in-a-family-with-barth-syndrome
#10
M Bakšienė, E Benušienė, A Morkūnienė, L Ambrozaitytė, A Utkus, V Kučinskas
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 of the TAZ gene that was detected prenatally.
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28197346/allogeneic-transplant-in-elane-and-mefv-mutation-positive-severe-cyclic-neutropenia-review-of-prognostic-factors-for-secondary-severe-events
#11
Onyemaechi N Okolo, Emmanuel Katsanis, Seongseok Yun, Candace Y Reveles, Faiz Anwer
Objective and Importance. Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic mutations, such as MEFV. Recommended treatment for CyN is G-CSF to keep ANC higher to minimize risk of infection. Case...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/27942017/characterisation-of-neutropenia-associated-neutrophil-elastase-mutations-in-a-murine-differentiation-model-in-vitro-and-in-vivo
#12
Michael Wiesmeier, Sanjivan Gautam, Susanne Kirschnek, Georg Häcker
Severe congenital neutropenia (SCN) is characterised by a differentiation block in the bone marrow and low neutrophil numbers in the peripheral blood, which correlates with increased risk of bacterial infections. Several underlying gene defects have been identified in SCN patients. Mutations in the neutrophil elastase (ELANE) gene are frequently found in SCN and cyclic neutropenia. Both mislocalization and misfolding of mutant neutrophil elastase protein resulting in ER stress and subsequent induction of the unfolded protein response (UPR) have been proposed to be responsible for neutrophil survival and maturation defects...
2016: PloS One
https://www.readbyqxmd.com/read/27858841/marshall-syndrome-in-a-young-child-a-reality-case-report
#13
Laura Mihaela Trandafir, Madalina Ionela Chiriac, Smaranda Diaconescu, Ileana Ioniuc, Ingrith Miron, Daniel Rusu
BACKGROUND: Recurrent fever syndrome, known as the Marshall syndrome (MS), is a clinical entity that includes several clinical features, such as: fever (39-40°C) that occurs repeatedly at variable intervals (3-8 weeks) and in episodes of 3 to 6 days, cervical adenopathy, pharyngitis, and aphthous stomatitis. The diagnosis of MS is one of exclusions; laboratory data is nonspecific and no abnormalities correlated with MS have been detected thus far. METHODS: The authors report the case of a 2-year-old girl admitted to a tertiary pediatric center for repeated episodes of fever with aphthous stomatitis and laterocervical adenopathy...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27857902/severe-congenital-cyclic-neutropenia-a-case-report
#14
Vidyavathi H Patil, Shivayogi M Hugar, Girish Balikai, Sudha Patil
Congenital cyclic neutropenia syndrome is a constitutional genetic disorder which is characterized by very low number of neutrophils (neutropenia). Patients suffering from this disorder clinically present with neutropenia at early age, history of recurrent fever, ulcerations in the oral cavity, gingivitis, and other recurrent infections. This paper describes a case report of a child with recurrent mouth ulcers, fever, and later diagnosed with severe congenital cyclic neutropenia. This also emphasizes the importance of identification of rare causes of immunosuppressive conditions in children presenting with recurrent oral ulcers and poor dental hygiene, to prevent long-term complications of oral cavity and also morbidity and mortality secondary to neutropenic sepsis...
October 2016: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/27817989/heme-oxygenase-1-affects-granulopoiesis-in-mice-through-control-of-myelocyte-proliferation
#15
Karolina Bukowska-Strakova, Maciej Ciesla, Krzysztof Szade, Witold Norbert Nowak, Robert Straka, Agata Szade, Malgorzata Tyszka-Czochara, Karolina Najder, Anna Konturek, Maciej Siedlar, Jozef Dulak, Alicja Jozkowicz
Heme oxygenase-1 (HO-1) is stress-inducible, cytoprotective enzyme degrading heme to carbon monoxide (CO), biliverdin and Fe2+ . We showed that HO-1 knock-out mice (HO-1-/- ) have a twofold higher level of granulocytes than wild type (WT) mice, despite decreased concentration of granulocyte colony-stimulating factor (G-CSF) in the blood and reduced surface expression of G-CSF receptor on the hematopoietic precursors. This suggests the effect of HO-1 on granulopoiesis. Here we aimed to determine the stage of granulopoiesis regulated by HO-1...
March 2017: Immunobiology
https://www.readbyqxmd.com/read/27721737/clostridium-septicum-an-unusual-link-to-a-lower-gastrointestinal-bleed
#16
Kegan Jessamy, Fidelis O Ojevwe, Ezinnaya Ubagharaji, Anuj Sharma, Obiajulu Anozie, Christy Ann Gilman, Sekou Rawlins
Clostridium septicum is a highly virulent pathogen which is associated with colorectal malignancy, hematological malignancy, immunosuppression, diabetes mellitus and cyclical neutropenia. Presentation may include disseminated clostridial infection in the form of septicemia, gas gangrene, and mycotic aortic aneurysms. We report the case of a 62-year-old female presenting with necrotizing fasciitis of her left thigh and subsequently developing rectal bleeding. While she was being treated with empiric antibiotics, her blood culture was found to be positive for C...
May 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27523011/giant-cell-arteritis-which-developed-after-the-administration-of-granulocyte-colony-stimulating-factor-for-cyclic-neutropenia
#17
Masataka Umeda, Jin Ikenaga, Tomohiro Koga, Toru Michitsuji, Toshimasa Shimizu, Shoichi Fukui, Ayako Nishino, Yoshikazu Nakasima, Sin-Ya Kawashiri, Naoki Iwamoto, Kunihiro Ichinose, Yasuko Hirai, Mami Tamai, Hideki Nakamura, Tomoki Origuchi, Atsushi Kawakami
A 78-year-old woman diagnosed with cyclic neutropenia 5 years previously had been treated with recombinant granulocyte-colony stimulating factor (G-CSF). She developed fever, tenderness and distension of temporal arteries after the treatment with G-CSF. Magnetic resonance imaging and ultrasonography revealed wall thickening of the temporal arteries. She was therefore diagnosed with giant cell arteritis (GCA). Small vessel vasculitis has been reported as a complication of G-CSF. However, the development of large vessel vasculitis after G-CSF treatment is quite rare...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27270496/role-of-csf3r-mutations-in-the-pathomechanism-of-congenital-neutropenia-and-secondary-acute-myeloid-leukemia
#18
Maksim Klimiankou, Sabine Mellor-Heineke, Cornelia Zeidler, Karl Welte, Julia Skokowa
Acquired mutations in the intracellular part of CSF3R (colony stimulating factor 3 receptor, granulocyte) have been detected with a frequency of more than 30% in severe congenital neutropenia (CN) patients. CN is a preleukemic syndrome with a risk of approximately 20% to develop leukemia. More than 80% of CN patients who develop acute myeloid leukemia or myelodysplastic syndrome reveal CSF3R mutations, suggesting that they are involved in leukemogenesis. Using deep-sequencing technology, we were able to analyze large cohorts of CN patients for the entire CSF3R sequence as well as to identify cell clones carrying mutations in the intracellular part of CSF3R with very high sensitivity...
April 2016: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/27222657/primary-immunodeficiencies-associated-with-eosinophilia
#19
REVIEW
Behdad Navabi, Julia Elizabeth Mainwaring Upton
BACKGROUND: Eosinophilia is not an uncommon clinical finding. However, diagnosis of its cause can be a dilemma once common culprits, namely infection, allergy and reactive causes are excluded. Primary immunodeficiency disorders (PID) are among known differentials of eosinophilia. However, the list of PIDs typically reported with eosinophilia is small and the literature lacks an inclusive list of PIDs which have been reported with eosinophilia. This motivated us to review the literature for all PIDs which have been described to have elevated eosinophils as this may contribute to an earlier diagnosis of PID and further the understanding of eosinophilia...
2016: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/27030388/two-cases-of-cyclic-neutropenia-with-acquired-csf3r-mutations-with-1-developing-aml
#20
LETTER
Maksim Klimiankou, Sabine Mellor-Heineke, Olga Klimenkova, Elisa Reinel, Murat Uenalan, Siarhei Kandabarau, Julia Skokowa, Karl Welte, Cornelia Zeidler
No abstract text is available yet for this article.
May 26, 2016: Blood
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