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157. Haploinsufficiency of UNC13D increases the risk of lymphoma

Author

Löfstedt, Alexandra, Ahlm, Clas, Tesi, Bianca, Bergdahl, Ingvar, Nordenskjöld, Magnus, Bryceson, Yenan T., Henter, Jan-Inge, Meeths, Marie, Löfstedt, Alexandra, Ahlm, Clas, Tesi, Bianca, Bergdahl, Ingvar, Nordenskjöld, Magnus, Bryceson, Yenan T., Henter, Jan-Inge, and Meeths, Marie

Abstract

BACKGROUND: Experimental models have demonstrated that immune surveillance by cytotoxic lymphocytes can protect from spontaneous neoplasms and cancer. In humans, defective lymphocyte cytotoxicity is associated with the development of hemophagocytic lymphohistiocytosis, a hyperinflammatory syndrome. However, to the best of the authors' knowledge, the degree to which human lymphocyte cytotoxicity protects from cancer remains unclear. In the current study, the authors examined the risk of lymphoma attributable to haploinsufficiency in a gene required for lymphocyte cytotoxicity. METHODS: The authors exploited a founder effect of an UNC13D inversion, which abolishes Munc13-4 expression and causes hemophagocytic lymphohistiocytosis in an autosomal recessive manner. Within 2 epidemiological screening programs in northern Sweden, an area demonstrating a founder effect of this specific UNC13D mutation, all individuals with a diagnosis of lymphoma (487 patients) and matched controls (1844 controls) were assessed using polymerase chain reaction for carrier status. RESULTS: Among 487 individuals with lymphoma, 15 (3.1%) were heterozygous carriers of the UNC13D inversion, compared with 18 controls (1.0%) (odds ratio, 3.0; P = .002). It is interesting to note that a higher risk of lymphoma was attributed to female carriers (odds ratio, 3.7; P = .004). CONCLUSIONS: Establishing a high regional prevalence of the UNC13D inversion, the authors have reported an overrepresentation of this mutation in individuals with lymphoma. Therefore, the results of the current study indicate that haploinsufficiency of a gene required for lymphocyte cytotoxicity can predispose patients to lymphoma, suggesting the importance of cytotoxic lymphocyte-mediated surveillance of cancer. Furthermore, the results of the current study suggest that female carriers are more susceptible to lymphoma.

Published
2019
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158. Elevated ferritin and soluble CD25 in critically ill are associated with parameters of (hyper)inflammation and lymphocyte cytotoxicity

Author

von Bahr Greenwood, Tatiana, Palmkvist-Kaijser, Kajsa, Chiang, Samuel C., Tesi, Bianca, Bryceson, Yenan T., Hjelmqvist, Hans, Henter, Jan-Inge, von Bahr Greenwood, Tatiana, Palmkvist-Kaijser, Kajsa, Chiang, Samuel C., Tesi, Bianca, Bryceson, Yenan T., Hjelmqvist, Hans, and Henter, Jan-Inge

Abstract

BACKGROUND: Critically ill may develop a potentially fatal hyperinflammation, secondary (acquired) hemophagocytic lymphohistiocytosis (sHLH), the cause of which is unclear. We evaluated serum ferritin and soluble CD25 (sCD25) in critically ill, and their association with other parameters of inflammation and critical illness. Moreover, aiming to better understand the pathogenesis of sHLH, we also evaluated lymphocyte cytotoxicity parameters and correlations with the inflammatory markers ferritin and sCD25. METHODS: In a prospective observational study, 32 patients with ferritin ≥500 μg/L (24 with sepsis) were studied on admission to an intensive care unit (ICU) with regard to ferritin and corresponding clinical and laboratory features including sCD25, and detailed lymphocyte cytotoxicity and genetic analyses whenever possible. RESULTS: Critically ill patients had elevated, positively correlated levels of serum ferritin and sCD25 (rs=0.465, p=0.008); both associated with other risk factors of poorer outcome in critically ill, such as thrombocytopenia (rs=-0.534, p=0.002 and rs=-0.421, p=0.018, respectively), and sCD25 with hypoalbuminemia (rs=-0.678, p<0.001) and life support treatments (rs=0.479, p=0.006). Interestingly, ferritin levels were inversely associated with NK- cell cytotoxicity (rs=-0.462, p=0.047) and degranulation (rs=-0.504, p=0.030). Moreover, of four patients with abnormally low cytotoxicity, three (75%) had <5% circulating NK-cells. CONCLUSIONS: Our study suggests that hyperferritinemia and sCD25 correlate with other laboratory parameters indicative of severe hyperinflammation and organ dysfunction in critically ill ICU-patients, indicating their value in identifying hyperinflammatory critically ill patients for early intervention. Furthermore, it suggests that hyperferritinemia and hyperinflammation may partly be associated with a low percentage circulating NK-cells, and hence, the associated low lymphocyte cytotoxicity.

Published
2019
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171. Recommendations for the management of hemophagocytic lymphohistiocytosis in adults

Author

La Rosée, Paul, primary, Horne, AnnaCarin, additional, Hines, Melissa, additional, von Bahr Greenwood, Tatiana, additional, Machowicz, Rafal, additional, Berliner, Nancy, additional, Birndt, Sebastian, additional, Gil-Herrera, Juana, additional, Girschikofsky, Michael, additional, Jordan, Michael B., additional, Kumar, Ashish, additional, van Laar, Jan A. M., additional, Lachmann, Gunnar, additional, Nichols, Kim E., additional, Ramanan, Athimalaipet V., additional, Wang, Yini, additional, Wang, Zhao, additional, Janka, Gritta, additional, and Henter, Jan-Inge, additional

Published
2019
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175. Patients with both Langerhans cell histiocytosis and Crohn's disease highlight a common role of interleukin‐23.

Author

Kvedaraite, Egle, Lourda, Magda, Han, HongYa, Tesi, Bianca, Mitchell, Jenée, Ideström, Maja, Mouratidou, Natalia, Rassidakis, George, Bahr Greenwood, Tatiana, Cohen‐Aubart, Fleur, Jädersten, Martin, Åkefeldt, Selma Olsson, Svensson, Mattias, Kannourakis, George, Bryceson, Yenan T., Haroche, Julien, and Henter, Jan‐Inge

Subjects
CROHN'S disease, LANGERHANS-cell histiocytosis, INTERLEUKIN-23
Abstract

Aim: To present the first case series of patients with Langerhans cell histiocytosis (LCH) also affected by Crohn's disease (CD), both of which are granulomatous diseases, and in LCH investigate the role of interleukin (IL)‐23, which is a well‐described disease mediator in CD. Methods: A case series of three patients with LCH and CD were described; a cohort of LCH patients (n = 55) as well as controls (n = 55) were analysed for circulating IL‐23 levels; and the relation between the percentage of LCH cells in lesions and circulating IL‐23 levels was analysed in seven LCH patients. Results: Differential diagnostic challenges for these two granulomatous diseases were highlighted in the case series, and it took up to 3 years to diagnose CD. Elevated IL‐23 levels were found in LCH patients. The amount of lesional LCH cells correlated with the levels of circulating IL‐23. Conclusion: Both CD and LCH should be considered in patients with inflammatory gastrointestinal involvement. The IL‐23 pathway is a common immunological trait between these two granulomatous diseases. [ABSTRACT FROM AUTHOR]

Published
2021
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177. Severe congenital neutropenia‐associated JAGN1 mutations unleash a calpain‐dependent cell death programme in myeloid cells.

Author

Khandagale, Avinash, Holmlund, Teresa, Entesarian, Miriam, Nilsson, Daniel, Kalwak, Krzysztof, Klaudel‐Dreszler, Maja, Carlsson, Göran, Henter, Jan‐Inge, Nordenskjöld, Magnus, and Fadeel, Bengt

Subjects
CELL death, CELLS, CALPAIN, CELL lines, APOPTOSIS
Abstract

Summary: Severe congenital neutropenia (SCN) of autosomal recessive inheritance, also known as Kostmann disease, is characterised by a lack of neutrophils and a propensity for life‐threatening infections. Using whole‐exome sequencing, we identified homozygous JAGN1 mutations (p.Gly14Ser and p.Glu21Asp) in three patients with Kostmann‐like SCN, thus confirming the recent attribution of JAGN1 mutations to SCN. Using the human promyelocytic cell line HL‐60 as a model, we found that overexpression of patient‐derived JAGN1 mutants, but not silencing of JAGN1, augmented cell death in response to the pro‐apoptotic stimuli, etoposide, staurosporine, and thapsigargin. Furthermore, cells expressing mutant JAGN1 were remarkably susceptible to agonists that normally trigger degranulation and succumbed to a calcium‐dependent cell death programme. This mode of cell death was completely prevented by pharmacological inhibition of calpain but unaffected by caspase inhibition. In conclusion, our results confirmed the association between JAGN1 mutations and SCN and showed that SCN‐associated JAGN1 mutations unleash a calcium‐ and calpain‐dependent cell death in myeloid cells. [ABSTRACT FROM AUTHOR]

Published
2021
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179. Dengue Infection Complicated by Hemophagocytic Lymphohistiocytosis: Experiences From 180 Patients With Severe Dengue.

Author

Kan, Foong Kee, Tan, Cheng Cheng, Greenwood, Tatiana Von Bahr, Khalid, Khairil E, Supramaniam, Premaa, Myrberg, Ida Hed, Tan, Lian Huat, and Henter, Jan-Inge

Subjects
MORTALITY risk factors, ADRENOCORTICAL hormones, ASPARTATE aminotransferase, CONFIDENCE intervals, CREATININE, DENGUE, ETOPOSIDE, FERRITIN, INTENSIVE care units, LACTATE dehydrogenase, PROBABILITY theory, HEMOPHAGOCYTIC lymphohistiocytosis, RISK assessment, COMORBIDITY, MULTIPLE regression analysis, ALANINE aminotransferase, RETROSPECTIVE studies, TERTIARY care, ODDS ratio
Abstract

Background Globally, ~500 000 people with severe dengue (SD) require hospitalization yearly; ~12 500 (2.5%) die. Secondary hemophagocytic lymphohistiocytosis (sHLH) is a potentially fatal hyperinflammatory condition for which HLH-directed therapy (as etoposide and dexamethasone) can be life-saving. Prompted by the high mortality in SD and the increasing awareness that patients with SD may develop sHLH, our objectives were to (1) determine the frequency of dengue-HLH in SD, (2) describe clinical features of dengue-HLH, (3) assess mortality rate in SD and dengue-HLH, and (4) identify mortality-associated risk factors in SD. Methods A 5-year retrospective single-center study in all adult patients with SD admitted to a tertiary intensive care unit in Malaysia. Results Thirty-nine of 180 (22%) patients with SD died. Twenty-one of 180 (12%) had HLH defined as an HLH probability ≥70% according to histo score (HScore); 9 (43%) died. Similarly, 12 of 31 (39%) fulfilling ≥4 and 7 of 9 (78%) fulfilling ≥5 HLH-2004 diagnostic criteria died. Peak values of aspartate aminotransferase (AST), alanine aminotransferase, lactate dehydrogenase, and creatinine correlated to fatality (odds ratios [ORs], 2.9, 3.4, 5.8, and 31.9; all P <.0001), as did peak ferritin (OR, 2.5; P =.0028), nadir platelets (OR, 1.9; P =.00068), hepatomegaly (OR, 2.9; P =.012), and increasing age (OR, 1.2; P =.0043). Multivariable logistic regression revealed peak AST (OR, 2.8; P =.0019), peak creatinine (OR, 7.3; P =.0065), and SOFA (Sequential Organ Failure Assessment) score (OR, 1.4; P =.0051) as independent risk factors of death. Conclusions Be observant of dengue-HLH due to its high mortality. A prospective study is suggested on prompt HLH-directed therapy in SD patients with hyperinflammation and evolving multiorgan failure at risk of developing dengue-HLH. [ABSTRACT FROM AUTHOR]

Published
2020
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181. Low-level expression of SAMHD1 in acute myeloid leukemia (AML) blasts correlates with improved outcome upon consolidation chemotherapy with high-dose cytarabine-based regimens

Author

Rassidakis, George Z., primary, Herold, Nikolas, additional, Myrberg, Ida Hed, additional, Tsesmetzis, Nikolaos, additional, Rudd, Sean G., additional, Henter, Jan-Inge, additional, Schaller, Torsten, additional, Ng, Siok-Bian, additional, Chng, Wee Joo, additional, Yan, Benedict, additional, Ng, Chin Hin, additional, Ravandi, Farhad, additional, Andreeff, Michael, additional, Kantarjian, Hagop M., additional, Medeiros, L. Jeffrey, additional, Xagoraris, Ioanna, additional, and Khoury, Joseph D., additional

Published
2018
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182. A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation

Author

Tesi, Bianca, primary, Rascon, Jelena, additional, Chiang, Samuel C.C., additional, Burnyte, Birute, additional, Löfstedt, Alexandra, additional, Fasth, Anders, additional, Heizmann, Miriam, additional, Juozapaite, Sandra, additional, Kiudeliene, Rosita, additional, Kvedaraite, Egle, additional, Miseviciene, Valdone, additional, Muleviciene, Audrone, additional, Müller, Martha-Lena, additional, Nordenskjöld, Magnus, additional, Matuzeviciene, Reda, additional, Samaitiene, Ruta, additional, Speckmann, Carsten, additional, Stankeviciene, Sigita, additional, Zekas, Vytautas, additional, Voss, Matthias, additional, Ehl, Stephan, additional, Vaiciene-Magistris, Nerija, additional, Henter, Jan-Inge, additional, Meeths, Marie, additional, and Bryceson, Yenan T., additional

Published
2018
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184. Effective Control of Epstein-Barr Virus–Related Hemophagocytic Lymphohistiocytosis With Immunochemotherapy

Author

Imashuku, Shinsaku, Hibi, Shigeyoshi, Ohara, Toshio, Iwai, Asayuki, Sako, Masahiro, Kato, Masahiko, Arakawa, Hirokazu, Sotomatsu, Manabu, Kataoka, Satoshi, Asami, Keiko, Hasegawa, Daijiro, Kosaka, Yoshiyuki, Sano, Kimihiko, Igarashi, Noboru, Maruhashi, Keiko, Ichimi, Ryouji, Kawasaki, Hajime, Maeda, Naoko, Tanizawa, Akihiko, Arai, Koji, Abe, Takanori, Hisakawa, Hiroaki, Miyashita, Hidemasa, and Henter, Jan-Inge

Published
1999
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185. Stromal cell - innate immune cell interactions in inflammatory bowel disease patients

Author

Kvedaraite, Egle, Lourda, Magdalini, Van Acker, Aline, Jess, David Unnersjö, Gavhed, Desiree, Mjosberg, Jenny, Idestrom, Maja, Henter, Jan-Inge, Svensson, Mattias, Kvedaraite, Egle, Lourda, Magdalini, Van Acker, Aline, Jess, David Unnersjö, Gavhed, Desiree, Mjosberg, Jenny, Idestrom, Maja, Henter, Jan-Inge, and Svensson, Mattias

Abstract

QC 20171018

Published
2017

190. Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak–Higashi Syndrome Patients

Author

Chiang, Samuel C. C., primary, Wood, Stephanie M., additional, Tesi, Bianca, additional, Akar, Himmet Haluk, additional, Al-Herz, Waleed, additional, Ammann, Sandra, additional, Belen, Fatma Burcu, additional, Caliskan, Umran, additional, Kaya, Zühre, additional, Lehmberg, Kai, additional, Patiroglu, Turkan, additional, Tokgoz, Huseyin, additional, Ünüvar, Ayşegül, additional, Introne, Wendy J., additional, Henter, Jan-Inge, additional, Nordenskjöld, Magnus, additional, Ljunggren, Hans-Gustaf, additional, Meeths, Marie, additional, Ehl, Stephan, additional, Krzewski, Konrad, additional, and Bryceson, Yenan T., additional

Published
2017
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191. Children with cancer share their views : tell the truth but leave room for hope

Author

Jalmsell, Li, Lovgren, Malin, Kreicbergs, Ulrika, Henter, Jan-Inge, Frost, Britt-Marie, Jalmsell, Li, Lovgren, Malin, Kreicbergs, Ulrika, Henter, Jan-Inge, and Frost, Britt-Marie

Abstract

AimOne in five children diagnosed with cancer will die from the disease. The aim of the study was to explore how children with cancer want to receive bad news about their disease, such as when no more treatment options are available. MethodsWe conducted individual interviews with ten children with cancer, aged seven to 17 years, at a single paediatric oncology unit in central Sweden. Interviews were audio-taped and analysed with systematic text condensation. Bad news was defined as information about a potentially fatal outcome, such as a disease relapse, or information that the treatment administered was no longer working and that there was no more treatment possible. ResultsAll children expressed that they wanted truthful information and they did not want to be excluded from bad news regarding their illness. They wanted to be informed as positively as possible, allowing them to maintain hope, and in words that they could understand. They also wanted to receive any bad news at the same time as their parents. ConclusionChildren with cancer want to be fully informed about their disease, but they also wanted it to be relayed as positively as possible so that they could stay hopeful.

Published
2016
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192. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

Author

Ravelli, Angelo, Minoia, Francesca, Davì, Sergio, Horne, AnnaCarin, Bovis, Francesca, Pistorio, Angela, Aricò, Maurizio, Avcin, Tadej, Behrens, Edward M, De Benedetti, Fabrizio, Filipovic, Alexandra, Grom, Alexei A, Henter, Jan-Inge, Ilowite, Norman T, Jordan, Michael B, Khubchandani, Raju, Kitoh, Toshiyuki, Lehmberg, Kai, Lovell, Daniel J, Miettunen, Paivi, Nichols, Kim E, Ozen, Seza, Pachlopnik Schmid, Jana, Ramanan, Athimalaipet V, Russo, Ricardo, Schneider, Rayfel, Sterba, Gary, Uziel, Yosef, Wallace, Carol, Wouters, Carine, Wulffraat, Nico, Demirkaya, Erkan, Brunner, Hermine I, Martini, Alberto, Ruperto, Nicolino, Cron, Randy Q, Ravelli, Angelo, Minoia, Francesca, Davì, Sergio, Horne, AnnaCarin, Bovis, Francesca, Pistorio, Angela, Aricò, Maurizio, Avcin, Tadej, Behrens, Edward M, De Benedetti, Fabrizio, Filipovic, Alexandra, Grom, Alexei A, Henter, Jan-Inge, Ilowite, Norman T, Jordan, Michael B, Khubchandani, Raju, Kitoh, Toshiyuki, Lehmberg, Kai, Lovell, Daniel J, Miettunen, Paivi, Nichols, Kim E, Ozen, Seza, Pachlopnik Schmid, Jana, Ramanan, Athimalaipet V, Russo, Ricardo, Schneider, Rayfel, Sterba, Gary, Uziel, Yosef, Wallace, Carol, Wouters, Carine, Wulffraat, Nico, Demirkaya, Erkan, Brunner, Hermine I, Martini, Alberto, Ruperto, Nicolino, and Cron, Randy Q

Published
2016

193. 2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

Author

Infection & Immunity, Child Health, Immuno/reuma patientenzorg, Ravelli, Angelo, Minoia, Francesca, Davì, Sergio, Horne, AnnaCarin, Bovis, Francesca, Pistorio, Angela, Aricò, Maurizio, Avcin, Tadej, Behrens, Edward M, De Benedetti, Fabrizio, Filipovic, Lisa, Grom, Alexei A, Henter, Jan-Inge, Ilowite, Norman T, Jordan, Michael B, Khubchandani, Raju, Kitoh, Toshiyuki, Lehmberg, Kai, Lovell, Dan J, Miettunen, Paivi, Nichols, Kim E, Ozen, Seza, Pachlopnik Schmid, Jana, Ramanan, Athimalaipet V, Russo, Ricardo, Schneider, Rayfel, Sterba, Gary, Uziel, Yosef, Wallace, Carol, Wouters, Carine, Wulffraat, Nico, Demirkaya, Erkan, Brunner, Hermine I, Martini, Alberto, Ruperto, Nicolino, Cron, Randy Q, Pediatric Rheumatology International Trials Organization, the Childhood Arthritis & Rheumatology Research Alliance, the Pediatric Rheumatology Collaborative Study Group, and the Histiocyte Society, Infection & Immunity, Child Health, Immuno/reuma patientenzorg, Ravelli, Angelo, Minoia, Francesca, Davì, Sergio, Horne, AnnaCarin, Bovis, Francesca, Pistorio, Angela, Aricò, Maurizio, Avcin, Tadej, Behrens, Edward M, De Benedetti, Fabrizio, Filipovic, Lisa, Grom, Alexei A, Henter, Jan-Inge, Ilowite, Norman T, Jordan, Michael B, Khubchandani, Raju, Kitoh, Toshiyuki, Lehmberg, Kai, Lovell, Dan J, Miettunen, Paivi, Nichols, Kim E, Ozen, Seza, Pachlopnik Schmid, Jana, Ramanan, Athimalaipet V, Russo, Ricardo, Schneider, Rayfel, Sterba, Gary, Uziel, Yosef, Wallace, Carol, Wouters, Carine, Wulffraat, Nico, Demirkaya, Erkan, Brunner, Hermine I, Martini, Alberto, Ruperto, Nicolino, Cron, Randy Q, and Pediatric Rheumatology International Trials Organization, the Childhood Arthritis & Rheumatology Research Alliance, the Pediatric Rheumatology Collaborative Study Group, and the Histiocyte Society

Published
2016

194. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

Author

Cluster B, Infection & Immunity, Regenerative Medicine and Stem Cells, Child Health, Immuno/reuma patientenzorg, Ravelli, Angelo, Minoia, Francesca, Davì, Sergio, Horne, AnnaCarin, Bovis, Francesca, Pistorio, Angela, Aricò, Maurizio, Avcin, Tadej, Behrens, Edward M, De Benedetti, Fabrizio, Filipovic, Alexandra, Grom, Alexei A, Henter, Jan-Inge, Ilowite, Norman T, Jordan, Michael B, Khubchandani, Raju, Kitoh, Toshiyuki, Lehmberg, Kai, Lovell, Daniel J, Miettunen, Paivi, Nichols, Kim E, Ozen, Seza, Pachlopnik Schmid, Jana, Ramanan, Athimalaipet V, Russo, Ricardo, Schneider, Rayfel, Sterba, Gary, Uziel, Yosef, Wallace, Carol, Wouters, Carine, Wulffraat, Nico, Demirkaya, Erkan, Brunner, Hermine I, Martini, Alberto, Ruperto, Nicolino, Cron, Randy Q, Cluster B, Infection & Immunity, Regenerative Medicine and Stem Cells, Child Health, Immuno/reuma patientenzorg, Ravelli, Angelo, Minoia, Francesca, Davì, Sergio, Horne, AnnaCarin, Bovis, Francesca, Pistorio, Angela, Aricò, Maurizio, Avcin, Tadej, Behrens, Edward M, De Benedetti, Fabrizio, Filipovic, Alexandra, Grom, Alexei A, Henter, Jan-Inge, Ilowite, Norman T, Jordan, Michael B, Khubchandani, Raju, Kitoh, Toshiyuki, Lehmberg, Kai, Lovell, Daniel J, Miettunen, Paivi, Nichols, Kim E, Ozen, Seza, Pachlopnik Schmid, Jana, Ramanan, Athimalaipet V, Russo, Ricardo, Schneider, Rayfel, Sterba, Gary, Uziel, Yosef, Wallace, Carol, Wouters, Carine, Wulffraat, Nico, Demirkaya, Erkan, Brunner, Hermine I, Martini, Alberto, Ruperto, Nicolino, and Cron, Randy Q

Published
2016

195. Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis

Author

Ericson, Kim Goransdotter, Fadeel, Bengt, Nilsson-Ardnor, Sofie, Soderhall, Cilla, Samuelsson, AnnaCarin, Janka, Gritta, Schneider, Marion, Gurgey, Aytemiz, Yalman, Nevin, Revesz, Tom, Egeler, R. Maarten, Jahnukainen, Kirsi, Storm-Mathiesen, Ingebjorg, Haraldsson, Asgeir, Poole, Janet, de Saint Basile, Genevieve, Nordenskjold, Magnus, and Henter, Jan-Inge

Subjects
Gene mutations -- Analysis, Genetic disorders -- Care and treatment, Human genetics -- Research, Biological sciences
Published
2001

196. Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

Author

Stepp, Susan E., Dufourcq-Lagelouse, Remi, Le Deist, Francoise, Bhawan, Sadhna, Certain, Stephanie, Mathew, Porunelloor A., Henter, Jan-Inge, Bennett, Michael, Fischer, Alain, Basile, Genevieve de Saint, and Kumar, Vinay

Subjects
Genetic disorders -- Research -- Genetic aspects, Immunologic diseases -- Genetic aspects -- Research, Science and technology, Research, Genetic aspects
Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, rapidly fatal, autosomal recessive immune disorder characterized by uncontrolled activation of T cells and macrophages and overproduction of inflammatory cytokines. Linkage analyses indicate that FHL is genetically heterogeneous and linked to 9q21.3-22, 10q21-22, or another as yet undefined locus. Sequencing of the coding regions of the perforin gene of eight unrelated 10q21-22-linked FHL patients revealed homozygous nonsense mutations in four patients and missense mutations in the other four patients. Cultured lymphocytes from patients had defective cytotoxic activity, and immunostaining revealed little or no perforin in the granules. Thus, defects in perforin are responsible for 10q21-22-[inked FHL Perforin-based effector systems are, therefore, involved not only in the lysis of abnormal cells but also in the down-regulation of cellular immune activation., FHL is a hemophagocytic lymphohistiocytic disorder in which previously healthy young children present with fever, splenomegaly, hepatomegaly, pancytopenia, coagulation abnormalities, neurological abnormalities, and high serum concentrations of interferon-[Gamma] (IFN-[Gamma]) and [...]

Published
1999

197. Lack of bone lesions at diagnosis is associated with inferior outcome in multisystem langerhans cell histiocytosis of childhood

Author

Aricò, Maurizio, Astigarraga, Itziar, Braier, Jorge, Donadieu, Jean, Gadner, Helmut, Glogova, Evgenia, Grois, Nicole, Henter, Jan-Inge, Janka, Gritta, McClain, Kenneth L., Ladisch, Stephan, Pötschger, Ulrike, Rosso, Diego, Thiem, Elfriede, Weitzman, Sheila, Windebank, Kevin, Minkov, Milen, and For the Histiocyte Society

Subjects
Pathology, medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Aspartate transaminase, Spleen, Medicina Clínica, Costal margin, Bone and Bones, Oncología, Langerhans cell histiocytosis, medicine, Humans, Bone lesion, Child, Proportional Hazards Models, Prognostic factor, biology, business.industry, Infant, Hematology, medicine.disease, Prognosis, Childhood, Multsystem disease, Histiocytosis, Haematopoiesis, Histiocytosis, Langerhans-Cell, medicine.anatomical_structure, Alanine transaminase, Child, Preschool, biology.protein, Bone involvement, business, Risck organ
Abstract

Skeletal involvement is generally, but not universally, characteristic of Langerhans cell histiocytosis (LCH). We investigated whether the presence of bone lesions at diagnosis is a prognostic factor for survival in LCH. Nine hundred and thirty-eight children with multisystem (MS) LCH, both high (386 RO+) and low (RO−) risk, were evaluated for bone lesions at diagnosis. Risk organ (RO+) involvement was defined as: haematopoietic system (haemoglobin 2 cm below the costal margin), liver (>3 cm and/or hypoproteinaemia, hypoalbuminaemia, hyperbilirubinaemia, and/or increased aspartate transaminase/alanine transaminase). Given the general view that prognosis in LCH worsens with increasing extent of disease, the surprising finding was that in MS+RO+ LCH the probability of survival with bone involvement 74 ± 3% (n = 230, 56 events) was reduced to 62 ± 4% (n = 156, 55 events) if this was absent (P = 0·007). An even greater difference was seen in the subgroup of patients with both liver and either haematopoiesis or spleen involvement: 61 ± 5% survival (n = 105; 52 events) if patients had bony lesions, versus 47 ± 5% (n = 111; 39 events) if they did not (P = 0·014). This difference was retained in multivariate analysis (P = 0·048). Although as yet unexplained, we conclude that bone involvement at diagnosis is a previously unrecognized favourable prognostic factor in MS+RO+ LCH. Fil: Aricò, Maurizio. Azienda Sanitaria Provinciale; Italia Fil: Astigarraga, Itziar. Bio Cruces Health Research Institute; España. Universidad del País Vasco; España Fil: Braier, Jorge. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Donadieu, Jean. Hospital Trousseau; Francia Fil: Gadner, Helmut. St. Anna Children's Hospital; Austria. Children's Cancer Research Institute; Austria Fil: Glogova, Evgenia. St. Anna Children's Hospital; Austria. Children's Cancer Research Institute; Austria Fil: Grois, Nicole. Children's Cancer Research Institute; Austria. St. Anna Children's Hospital; Austria Fil: Henter, Jan-Inge. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Janka, Gritta. University Medical Centre. Department of Haematology and Oncology; Alemania Fil: McClain, Kenneth L.. Texas Children's Cancer and Hematology Centers ; Estados Unidos Fil: Ladisch, Stephan. Children's National Medical Center ; Estados Unidos Fil: Pötschger, Ulrike. St. Anna Children's Hospital; Austria. Children's Cancer Research Institute; Austria Fil: Rosso, Diego. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Thiem, Elfriede. St. Anna Children's Hospital; Austria. Children's Cancer Research Institute; Austria Fil: Weitzman, Sheila. Hospital for Sick Children. Division of Hematology/Oncology; Canadá Fil: Windebank, Kevin. University of Newcastle; Reino Unido Fil: Minkov, Milen. Children's Cancer Research Institute; Austria. St. Anna Children's Hospital; Austria Fil: For the Histiocyte Society.

Published
2014
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198. Cytopenia, Predisposition to Myelodysplastic Syndrome, Immunodeficiency, and Neurological Disease Caused By Gain-of-Function SAMD9L Mutations Is Frequently Ameliorated By Hematopoietic Revertant Mosaicism

Author

Tesi, Bianca, primary, Davidsson, Josef, additional, Voss, Matthias, additional, Holmes, Timothy, additional, Ripperger, Tim, additional, Chiang, Samuel, additional, Nilsson, Lars, additional, Nordenskjöld, Magnus, additional, Henter, Jan-Inge, additional, Bryder, David, additional, Fioretos, Thoas, additional, Uusimaa, Johanna, additional, Komulainen-Ebrahim, Jonna, additional, Möttönen, Merja, additional, Niinimäki, Riitta, additional, Moilanen, Jukka, additional, Rahikkala, Elisa, additional, Tedgård, Ulf, additional, Cammenga, Jörg, additional, and Bryceson, Yenan, additional

Published
2016
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200. The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis

Author

Hartz, Bernd, primary, Marsh, Rebecca, additional, Rao, Kanchan, additional, Henter, Jan-Inge, additional, Jordan, Michael, additional, Filipovich, Lisa, additional, Bader, Peter, additional, Beier, Rita, additional, Burkhardt, Birgit, additional, Meisel, Roland, additional, Schulz, Ansgar, additional, Winkler, Beate, additional, Albert, Michael H., additional, Greil, Johann, additional, Karasu, Gülsün, additional, Woessmann, Wilhelm, additional, Corbacioglu, Selim, additional, Gruhn, Bernd, additional, Holter, Wolfgang, additional, Kühl, Jörn-Sven, additional, Lang, Peter, additional, Seidel, Markus G., additional, Veys, Paul, additional, Löfstedt, Alexandra, additional, Ammann, Sandra, additional, Ehl, Stephan, additional, Janka, Gritta, additional, Müller, Ingo, additional, and Lehmberg, Kai, additional

Published
2016
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