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Статті в журналах з теми "Immunodeficienza primitiva"
Dekate, Jyoti, and Runjan Chetty. "Epstein-Barr Virus–Associated Smooth Muscle Tumor." Archives of Pathology & Laboratory Medicine 140, no. 7 (July 1, 2016): 718–22. http://dx.doi.org/10.5858/arpa.2015-0120-rs.
Повний текст джерелаvan der Loo, Johannes C. M., Helmut Hanenberg, Ryan J. Cooper, F. Y. Luo, Emmanuel N. Lazaridis, and David A. Williams. "Nonobese Diabetic/Severe Combined Immunodeficiency (NOD/SCID) Mouse as a Model System to Study the Engraftment and Mobilization of Human Peripheral Blood Stem Cells." Blood 92, no. 7 (October 1, 1998): 2556–70. http://dx.doi.org/10.1182/blood.v92.7.2556.
Повний текст джерелаvan der Loo, Johannes C. M., Helmut Hanenberg, Ryan J. Cooper, F. Y. Luo, Emmanuel N. Lazaridis, and David A. Williams. "Nonobese Diabetic/Severe Combined Immunodeficiency (NOD/SCID) Mouse as a Model System to Study the Engraftment and Mobilization of Human Peripheral Blood Stem Cells." Blood 92, no. 7 (October 1, 1998): 2556–70. http://dx.doi.org/10.1182/blood.v92.7.2556.2556_2556_2570.
Повний текст джерелаChihiro, Tsunoda, Sakamoto Teruhiko, Yamada Rieko, Otsuka Hiroko, Mitsumaru Akiyoshi, Kawashima Megumi, Watanabe Noriko, Fujibayashi Mariko, Aiba Motohiko, and Kato Hiroyuki. "A case of primitive neuroectodermal tumor associated with Acquired Immunodeficiency Syndrome." Progress of Digestive Endoscopy 74, no. 2 (2009): 110–11. http://dx.doi.org/10.11641/pde.74.2_110.
Повний текст джерелаMarandin, A., A. Katz, E. Oksenhendler, M. Tulliez, F. Picard, W. Vainchenker, and F. Louache. "Loss of primitive hematopoietic progenitors in patients with human immunodeficiency virus infection." Blood 88, no. 12 (December 15, 1996): 4568–78. http://dx.doi.org/10.1182/blood.v88.12.4568.bloodjournal88124568.
Повний текст джерелаTerpstra, W., RE Ploemacher, A. Prins, K. van Lom, K. Pouwels, AW Wognum, G. Wagemaker, B. Lowenberg, and JJ Wielenga. "Fluorouracil selectively spares acute myeloid leukemia cells with long- term growth abilities in immunodeficient mice and in culture." Blood 88, no. 6 (September 15, 1996): 1944–50. http://dx.doi.org/10.1182/blood.v88.6.1944.bloodjournal8861944.
Повний текст джерелаKaranu, Frances N., Barbara Murdoch, Lisa Gallacher, Dongmei M. Wu, Masahide Koremoto, Seiji Sakano, and Mickie Bhatia. "The Notch Ligand Jagged-1 Represents a Novel Growth Factor of Human Hematopoietic Stem Cells." Journal of Experimental Medicine 192, no. 9 (November 6, 2000): 1365–72. http://dx.doi.org/10.1084/jem.192.9.1365.
Повний текст джерелаCashman, Johanne, Ian Clark-Lewis, Allen Eaves, and Connie Eaves. "Stromal-derived factor 1 inhibits the cycling of very primitive human hematopoietic cells in vitro and in NOD/SCID mice." Blood 99, no. 3 (February 1, 2002): 792–99. http://dx.doi.org/10.1182/blood.v99.3.792.
Повний текст джерелаMilhem, Mohammed, Nadim Mahmud, Donald Lavelle, Hiroto Araki, Joseph DeSimone, Yogen Saunthararajah, and Ronald Hoffman. "Modification of hematopoietic stem cell fate by 5aza 2′deoxycytidine and trichostatin A." Blood 103, no. 11 (June 1, 2004): 4102–10. http://dx.doi.org/10.1182/blood-2003-07-2431.
Повний текст джерелаKambe, Naotomo, Hidefumi Hiramatsu, Mika Shimonaka, Hisanori Fujino, Ryuta Nishikomori, Toshio Heike, Mamoru Ito, et al. "Development of both human connective tissue-type and mucosal-type mast cells in mice from hematopoietic stem cells with identical distribution pattern to human body." Blood 103, no. 3 (February 1, 2004): 860–67. http://dx.doi.org/10.1182/blood-2003-04-1160.
Повний текст джерелаДисертації з теми "Immunodeficienza primitiva"
CASCIANO, FABIO. "Aspetti immunologici di pazienti pediatrici con immunodeficienze primitive." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2010. http://hdl.handle.net/2108/1278.
Повний текст джерелаDiGeorge syndrome (DGS) is caused by a deletion in hemizygosis of 22q11.2 locus responsible for embryogenesis defects causing alterations of thymus and parathyroid glands, cardiac defects and abnormal facial features. In most patients, the immune defect is basically in T cell subset although abnormalities such as dysgammaglobulinemia, IgA and memory B cells deficiency have been also reported. On the basis of the immunologic findings, DGS patients are divided in complete DGS (cDGS), a rare form of severe combined immune deficiency (0.5-1%), and partial DGS (pDGS) presenting mild/moderate T cell lymphopenia. Clinically, these patients display a wide spectrum of infections together with a dysregulation of immune system as atopic and autoimmune manifestations. T cell levels, although reduced, are not predictive of the risk to develop infections or autoimmunity. The alterations of the T cell receptor (TCR) repertoire distribution and impaired thymic output in pDGS have been variably associated to a higher risk of infections or autoimmunity. In order to better define some aspects of the pathogenesis and immunological features we studied the kinetic of immune reconstitution in a cohort of pDGS patients and in patients affected by other primary immunodeficiencies not directly affecting T-cell compartments (as Chronic Granulomatous Disease patients) through peripheral blood mononuclear cells (PBMC) analysis of: 1. Phenotype and immunologic functions through standard techniques. 2. TCR repertoire distribution of T CD4+ and T CD8+ subsets (TCRVB spectratyping). 3. Immunophenotypic B-cell maturation. 4. Frequency of T regulatory cells. The correlation between the in vitro immunological profile and the clinical features might help to clarify some aspects of the pathogenesis of the immunological defects, in order to identify possible prognostic markers of increased risk of susceptibility to infections or of development of autoimmunity. Results and Discussion: pDGS patients exhibited decreased T-cell numbers, although no correlation was found between low T-cell values and recurrent infections. Total B-cell numbers in pDGS and CGD patients were normal, although a significantly decreased proportion of memory B cells was observed. No difference in natural T regulatory cells frequency was evident when compared with healthy controls in any groups. A statistical reduced lymphoproliferative response to stimuli (PHA, OKT3 and PWM) in all patients was observed. TCRBV family distribution resulted perturbed, with higher degree in CD8+ T-cell subset in both CGD and pDGS patients. Particularly, TCRBV family alterations in pDGS patients showed a trend of normalization in T cell repertoire distribution (both CD4+ and CD8+ T-cell), as observed in CMV congenital infected patients. Recurrent infections correlated with a high frequency of TCRBV family alterations in pDGS but not in CGD patients. Although low T-cell values were not predictive of recurrent infections in DiGeorge syndrome, higher TCRBV family alterations, as well as humoral immunodeficiency and reduced CD27+ B cell memory frequency, were associated to an increased risk of infections in these patients. Interestingly analysis of CGD patients showed significative alterations in both T and B cells compartments, suggesting that quantitative and qualitative alterations found, might contribute to the heterogeneity in the clinical phenotype. Further studies are needed to elucidate how NADPH oxidase system is involved in CGD patients immune alterations. In conclusion, our analysis on PID patients with well known defective cell compartments revealed that other subsets were also involved, therefore some parameters such as TCRBV family distribution and B-cell maturation could be used as further prognostic markers for follow-up and specific treatment.
Prandini, Alberto. "Identificazione e caratterizzazione di una nuova sindrome da immunodeficienza primaria associata ad albinismo oculocutaneo." Doctoral thesis, Università degli studi di Trieste, 1985. http://hdl.handle.net/10077/8569.
Повний текст джерелаLa sindrome di Hermansky-Pudlak definisce un gruppo di immunodeficienze primarie rare caratterizzate da albinismo parziale, di tipo autosomico recessivo che si presentano con un quadro di infezioni ricorrenti e predisposizione ad emorragie. I geni causativi di queste patologie codificano proteine coinvolte nella biogenesi e nel trasporto di organelli intracellulari correlati a endosomi e lisosomi. Il caso giunto alla nostra attenzione presentava solo alcuni dei sintomi caratteristici di queste immunodeficienze. Escluse le malattie genetiche più note tramite sequenziamento diretto si è ricorso ad exome sequencing in modo da poter rilevare anche nuove variazioni non note. E' stata infatti riscontrata una mutazione in omozigosi sul gene PLDN (BLOC1S6), codificante una proteina chiamata Pallidina, una componente del complesso BLOC-1. La condizione risultante è stata identificata con il nome di “sindrome di Hermansky-Pudlak di tipo 9” (HPS-9). In questo studio dimostriamo che tale mutazione è associata alla patologia e che compromette la funzionalità del reparto immunitario sia citotossico (linfociti Natual Killer e CD8+) sia presentante l'antigene (cellule dendritiche).
XXV Ciclo
Hubeau, Marjorie. "Susceptibilité mendélienne aux maladies infectieuses chez l'homme : déficits en NEMO et NRAMP1." Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05T075.
Повний текст джерелаHuman populations are exposed to infectious agents such as bacteria, fungi, viruses and parasites on a daily basis without developing any disease. However, a minority of individuals will suffer from infections to some microbes that are usually non-pathogenic to man, or will undergo severe and/or recurrent diseases usually easily treatable for others. This means that there is variability among individuals regarding their immune system, underlined by genetics between susceptible and resistant individuals. Two types of primary immuno deficiencies with a Mendelian mode of inheritance have been described. The first known as the classical primary immunodeficiency and is monogenic and predisposes in general to infections with a broad spectrum of infectious agents (one gene, multiple infections). The second type is also monogenic but predisposes generally to infections limited to a particular group of pathogens (one gene, one type of infection). The aim of my doctoral research was to characterize two new immunodeficiencies. First I highlighted a new physiopathological mechanism of the NEMO protein, a regulator of NF-κB pathway. This defect is characterized by normal protein expression and folding, but a specific defect of NEMO’s ubiquitin binding, which is an essential mechanism for the activation and regulation of the NF-κB pathway. This demonstrates that normal expression and structure of the protein do not exclude a pathological role of NEMO mutations in EDA-ID. I also described a new immune deficiency affecting the respiratory burst pathway in granulocytes which specifically confers a selective susceptibility to pyogenic bacterial infections. We studied a patient who was born from consanguineous parents, and who suffered from recurrent infections of the upper respiratory tract and cellulitis to S. epidermidis. By a genetic approach involving linkage analysis and exome sequencing, I identified a rare homozygous mutation (V484M) in the gene encoding for the NRAMP1 protein that co segregates with the disease with an autosomal recessive transmission. Specifically, this mutation impairs NRAMP1 protein expression in granulocytes, while expression remains normal in other phagocytic cells. NRAMP1 deficiency impairs both the respiratory burst and control of in vitro infection by S. aureus in granulocytes. Therefore, we identified the first NRAMP1 human deficiency. The mutation selectively affects granulocytes and is clinically responsible for pyogenic infections. This study helps to delineate the role of NRAMP1 in immunity against pyogenic bacteria through its involvement in reactive oxygen species production in granulocytes
Ebbo, Mikaël. "Rôle des cellules lymphoïdes innées chez l'homme : analyse au cours de déficits immunitaires, pathologies auto-immunes et inflammatoires." Thesis, Aix-Marseille, 2017. http://www.theses.fr/2017AIXM0398.
Повний текст джерелаInnate lymphoid cells (ILCs) are recently identified components of the immune system, but their functions in vivo in humans are still elusive. In a first study, we show in patients with common variable immunodeficiency that non-infectious inflammatory complications and severe bacterial infections were more frequent in patients with severe NK cell lymphopenia, indicating potential non-redundant immune functions of NK cells when the adaptive immune response is not optimal. In a second study, we observe that in patients with ɣc and JAK3 severe combined immunodeficiencies, all ILC subsets are absent. After hematopoietic stem cell transplantation, ILCs remain indetectable with no susceptibility to disease, suggesting that ILCs might be redundant and dispensable in humans, if T and B cells functions are preserved. In the second part of this thesis, we study phenotypic and functional modifications of NK cell compartment in primary immune thrombocytopenia. Interferon gamma production by the peripheral blood NK cells of ITP patients is decreased. In contrast, splenic NK cells of ITP patients tend to be more efficient in antibody-dependent cell cytotoxicity. Intravenous polyvalent immunoglobulins lead to the inhibition of blood NK cell activation. Finally, we present the preliminary results of a study investigating the modifications of circulating ILCs in IgG4-related disease, and present an extensive litterature review concerning the role of ILCs in inflammatory diseases. In conclusion, the apparent redundancy of ILCs for protective immunity and their pathogenic role in inflammatory diseases make their targeting in humans for therapeutic purposes particularly promising
Tommasini, Alberto. "Vecchie e nuove Immunodeficienze Primitive: strategie per il sospetto e la diagnosi." Doctoral thesis, 2011. http://hdl.handle.net/10077/4571.
Повний текст джерелаL'identificazione di nuovi tipi di immunodeficienza richiede una rivalutazione delle strategie di sospetto e diagnosi. Sulla base delle nuove conoscenze e di un'analisi della casistica osservata presso l'Istituto Burlo Garofolo e presso la Clinica Pediatrica di Lubiana, vengono formulati alcuni consigli per migliorare il sospetto e la diagnosi delle diverse immunodeficienze.
IRCCS Burlo Garofolo, progetto RC 03/09
Частини книг з теми "Immunodeficienza primitiva"
Barberis, Alberto, Chiara Azzari, Clementina Canessa, Francesca Lippi, and Marco De Carli. "Immunodeficienze Primitive." In Le malattie rare del sistema immunitario, 149–67. Milano: Springer Milan, 2013. http://dx.doi.org/10.1007/978-88-470-5394-6_17.
Повний текст джерела