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Author Alexandra H Filipovich

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PAX1 is essential for development and function of the human thymus.

Yasuhiro Yamazaki, Raul Urrutia, Luis M Franco, Silvia Giliani, Kejian Zhang, Anas M Alazami, A Kerry Dobbs, Stefania Masneri, Avni Joshi, Francisco Otaizo-Carrasquero, Timothy G Myers, Sundar Ganesan, Maria Pia Bondioni, Mai Lan Ho, Catherine Marks, Huda Alajlan, Reem W Mohammed, Fanggeng Zou, C Alexander Valencia, Alexandra H Filipovich, Fabio Facchetti, Bertrand Boisson, Chiara Azzari, Bander K Al-Saud, Hamoud Al-Mousa, Jean Laurent Casanova, Roshini S Abraham, Luigi D Notarangelo,

We investigated the molecular and cellular basis of severe combined immunodeficiency (SCID) in six patients with otofaciocervical syndrome type 2 who failed to attain T cell reconstitution after allogeneic hematopoietic stem cell transplantation, despite successful engraftment in three of them. We identified rare biallelic <i>PAX1</i> rare variants in all patients. ... Read more >>

Sci Immunol (Science immunology)
[2020, 5(44):]

Cited: 12 times

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Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome.

Francesca Minoia, Francesca Bovis, Sergio Davì, Antonella Insalaco, Kai Lehmberg, Susan Shenoi, Sheila Weitzman, Graciela Espada, Yi-Jin Gao, Jordi Anton, Toshiyuki Kitoh, Ozgur Kasapcopur, Helga Sanner, Rosa Merino, Itziar Astigarraga, Maria Alessio, Michael Jeng, Vyacheslav Chasnyk, Kim E Nichols, Zeng Huasong, Caifeng Li, Concetta Micalizzi, Nicolino Ruperto, Alberto Martini, Randy Q Cron, Angelo Ravelli, AnnaCarin Horne, ,

<h4>Objective</h4>To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic arthritis.<h4>Study design</h4>The clinical, laboratory, and histopathologic features of 362 patients with MAS and 258 patients with pHLH were collected in a multinational collaborative study. Eighty ... Read more >>

J Pediatr (The Journal of pediatrics)
[2017, 189:72-78.e3]

Cited: 12 times

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Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study.

Elisabet Bergsten, AnnaCarin Horne, Maurizio Aricó, Itziar Astigarraga, R Maarten Egeler, Alexandra H Filipovich, Eiichi Ishii, Gritta Janka, Stephan Ladisch, Kai Lehmberg, Kenneth L McClain, Milen Minkov, Scott Montgomery, Vasanta Nanduri, Diego Rosso, Jan-Inge Henter,

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome comprising familial/genetic HLH (FHL) and secondary HLH. In the HLH-94 study, with an estimated 5-year probability of survival (pSu) of 54% (95% confidence interval, 48%-60%), systemic therapy included etoposide, dexamethasone, and, from week 9, cyclosporine A (CSA). Hematopoietic stem cell transplantation (HSCT) ... Read more >>

Blood (Blood)
[2017, 130(25):2728-2738]

Cited: 116 times

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Cytokine Profile of Engraftment Syndrome in Pediatric Hematopoietic Stem Cell Transplant Recipients.

Pooja Khandelwal, Sabine Mellor-Heineke, Najibah Rehman, Adam Lane, Kristi Smiley, Joyce Villanueva, Rebecca A Marsh, Michael S Grimley, Stella M Davies, Alexandra H Filipovich,

The biology of engraftment syndrome is poorly understood, and the degree of overlap with acute graft-versus-host disease (GVHD) is unclear. To understand engraftment syndrome better, plasma cytokine profiles were evaluated in 56 pediatric allogeneic bone marrow transplant recipients before transplant, on the day of stem cell infusion, and weekly until ... Read more >>

Biol Blood Marrow Transplant (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation)
[2016, 22(4):690-697]

Cited: 7 times

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Alemtuzumab levels impact acute GVHD, mixed chimerism, and lymphocyte recovery following alemtuzumab, fludarabine, and melphalan RIC HCT.

Rebecca A Marsh, Adam Lane, Parinda A Mehta, Lisa Neumeier, Sonata Jodele, Stella M Davies, Alexandra H Filipovich,

Reduced intensity conditioning (RIC) allogeneic hematopoietic cell transplantation (HCT) with alemtuzumab, fludarabine, and melphalan is an effective approach for patients with nonmalignant disorders. Mixed chimerism and graft-versus-host-disease (GVHD) remain limitations on success. We hypothesized that higher levels of alemtuzumab at day 0 would result in a low risk of acute ... Read more >>

Blood (Blood)
[2016, 127(4):503-512]

Cited: 26 times

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Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations.

Manar Abdalgani, Alexandra H Filipovich, Sharon Choo, Kejian Zhang, Carrie Gifford, Joyce Villanueva, Jack J Bleesing, Rebecca A Marsh,

Blood (Blood)
[2015, 126(15):1858-1860]

Cited: 12 times

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Erratum to "Bortezomib for Refractory Autoimmunity in Pediatrics" [Biol Blood Marrow Transplant 2014;20(10):1654-1659].

Pooja Khandelwal, Stella M Davies, Michael S Grimley, Michael B Jordan, Brian R Curtis, Sonata Jodele, Rebecca Marsh, Alexandra H Filipovich,

Biol Blood Marrow Transplant (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation)
[2016, 22(6):1147]

Cited: 0 times

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Activated phosphoinositide 3-kinase δ syndrome in a patient with a former diagnosis of common variable immune deficiency, bronchiectasis, and lymphoproliferative disease.

Jennifer A Kannan, Blachy J Dávila-Saldaña, Kejian Zhang, Alexandra H Filipovich, Zeynep Yesim Kucuk,

Ann Allergy Asthma Immunol (Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology)
[2015, 115(5):452-454]

Cited: 9 times

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A challenging undertaking: Stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Zeynep Yesim Kucuk, Jack J Bleesing, Rebecca Marsh, Kejian Zhang, Stella Davies, Alexandra H Filipovich,

J Allergy Clin Immunol (The Journal of allergy and clinical immunology)
[2016, 137(3):953-5.e4]

Cited: 15 times

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Pathogenesis of Hemophagocytic Lymphohistiocytosis.

Alexandra H Filipovich, Shanmuganathan Chandrakasan,

Hemophagocytic Lymphohistiocytosis (HLH), an inherited life-threatening inflammatory disorder, has gained growing recognition not only in children but also increasingly in adults over the past 2 decades. HLH involves inborn defects in lymphocytes, which normally mediate control of infectious and inflammatory conditions within the immune system and in other tissues. In ... Read more >>

Hematol Oncol Clin North Am (Hematology/oncology clinics of North America)
[2015, 29(5):895-902]

Cited: 26 times

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MicroRNA activation signature in patients with hemophagocytic lymphohistiocytosis and reversibility with disease-specific therapy.

Janos Sumegi, Shawnagay Nestheide, Bruce Aronow, David Fletcher, Mehdi Keddache, Joyce Villanueva, Kejian Zhang, Alexandra H Filipovich,

J Allergy Clin Immunol (The Journal of allergy and clinical immunology)
[2016, 137(1):309-312]

Cited: 3 times

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AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.

Bernice Lo, Kejian Zhang, Wei Lu, Lixin Zheng, Qian Zhang, Chrysi Kanellopoulou, Yu Zhang, Zhiduo Liu, Jill M Fritz, Rebecca Marsh, Ammar Husami, Diane Kissell, Shannon Nortman, Vijaya Chaturvedi, Hilary Haines, Lisa R Young, Jun Mo, Alexandra H Filipovich, Jack J Bleesing, Peter Mustillo, Michael Stephens, Cesar M Rueda, Claire A Chougnet, Kasper Hoebe, Joshua McElwee, Jason D Hughes, Elif Karakoc-Aydiner, Helen F Matthews, Susan Price, Helen C Su, V Koneti Rao, Michael J Lenardo, Michael B Jordan,

Mutations in the LRBA gene (encoding the lipopolysaccharide-responsive and beige-like anchor protein) cause a syndrome of autoimmunity, lymphoproliferation, and humoral immune deficiency. The biological role of LRBA in immunologic disease is unknown. We found that patients with LRBA deficiency manifested a dramatic and sustained improvement in response to abatacept, a ... Read more >>

Science (Science (New York, N.Y.))
[2015, 349(6246):436-440]

Cited: 223 times

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Peripheral Blood CD38 Bright CD8+ Effector Memory T Cells Predict Acute Graft-versus-Host Disease.

Pooja Khandelwal, Adam Lane, Vijaya Chaturvedi, Erika Owsley, Stella M Davies, Daniel Marmer, Alexandra H Filipovich, Michael B Jordan, Rebecca A Marsh,

Acute graft-versus-host disease (aGVHD) is mediated by allogeneic T cell responses. We hypothesized that increases of peripheral blood-activated CD8+ effector memory T (TEM) cells would be observed after hematopoietic stem cell transplantation (HSCT) before onset of aGVHD symptoms. Blood was collected twice weekly after HSCT for 7 weeks in 49 ... Read more >>

Biol Blood Marrow Transplant (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation)
[2015, 21(7):1215-1222]

Cited: 6 times

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Experience with Alemtuzumab, Fludarabine, and Melphalan Reduced-Intensity Conditioning Hematopoietic Cell Transplantation in Patients with Nonmalignant Diseases Reveals Good Outcomes and That the Risk of Mixed Chimerism Depends on Underlying Disease, Stem Cell Source, and Alemtuzumab Regimen.

Rebecca A Marsh, Marepalli B Rao, Aharon Gefen, Denise Bellman, Parinda A Mehta, Pooja Khandelwal, Sharat Chandra, Sonata Jodele, Kasiani C Myers, Michael Grimley, Christopher Dandoy, Javier El-Bietar, Ashish R Kumar, Tom Leemhuis, Kejian Zhang, Jack J Bleesing, Michael B Jordan, Alexandra H Filipovich, Stella M Davies,

Alemtuzumab, fludarabine, and melphalan reduced-intensity conditioning (RIC) regimens are increasingly used for the hematopoietic cell transplantation (HCT) of pediatric and young adult patients with nonmalignant diseases. Early experience suggests that these regimens are associated with good survival but a high incidence of mixed chimerism, which we have previously shown to ... Read more >>

Biol Blood Marrow Transplant (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation)
[2015, 21(8):1460-1470]

Cited: 22 times

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Haematopoietic stem cell transplantation for refractory Langerhans cell histiocytosis: outcome by intensity of conditioning.

Paul A Veys, Vasanta Nanduri, K Scott Baker, Wensheng He, Giuseppe Bandini, Andrea Biondi, Arnaud Dalissier, Jeffrey H Davis, Gretchen M Eames, R Maarten Egeler, Alexandra H Filipovich, Alain Fischer, Herbert Jürgens, Robert Krance, Edoardo Lanino, Wing H Leung, Susanne Matthes, Gérard Michel, Paul J Orchard, Anna Pieczonka, Olle Ringdén, Paul G Schlegel, Anne Sirvent, Kim Vettenranta, Mary Eapen,

Patients with Langerhans cell histiocytosis (LCH) refractory to conventional chemotherapy have a poor outcome. There are currently two promising treatment strategies for high-risk patients: the first involves the combination of 2-chlorodeoxyadenosine and cytarabine; the other approach is allogeneic haematopoietic stem cell transplantation (HSCT). Here we evaluated 87 patients with high-risk ... Read more >>

Br J Haematol (British journal of haematology)
[2015, 169(5):711-718]

Cited: 15 times

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Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.

Kenneth M Kaufman, Bolan Linghu, Joseph D Szustakowski, Ammar Husami, Fan Yang, Kejian Zhang, Alexandra H Filipovich, Ndate Fall, John B Harley, N R Nirmala, Alexei A Grom,

<h4>Objective</h4>Macrophage activation syndrome (MAS), a life-threatening complication of systemic juvenile idiopathic arthritis (JIA), resembles familial hemophagocytic lymphohistiocytosis (HLH), a constellation of autosomal-recessive immune disorders resulting from deficiency in cytolytic pathway proteins. We undertook this study to test our hypothesis that MAS predisposition in systemic JIA could be attributed to rare ... Read more >>

Arthritis Rheumatol (Arthritis & rheumatology (Hoboken, N.J.))
[2014, 66(12):3486-3495]

Cited: 64 times

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Outcomes of donor lymphocyte infusion for treatment of mixed donor chimerism after a reduced-intensity preparative regimen for pediatric patients with nonmalignant diseases.

Hilary L Haines, Jack J Bleesing, Stella M Davies, Lindsey Hornung, Michael B Jordan, Rebecca A Marsh, Alexandra H Filipovich,

Mixed donor chimerism is increasingly common in the pediatric hematopoietic stem cell transplantation (HSCT) setting because of the increased use of reduced-intensity preparative regimens for nonmalignant diseases. Donor lymphocyte infusion (DLI) is potentially useful in the treatment of mixed donor chimerism, but little are data available on the use of ... Read more >>

Biol Blood Marrow Transplant (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation)
[2015, 21(2):288-292]

Cited: 15 times

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A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.

Salima Hacein-Bey-Abina, Sung-Yun Pai, H Bobby Gaspar, Myriam Armant, Charles C Berry, Stephane Blanche, Jack Bleesing, Johanna Blondeau, Helen de Boer, Karen F Buckland, Laure Caccavelli, Guilhem Cros, Satiro De Oliveira, Karen S Fernández, Dongjing Guo, Chad E Harris, Gregory Hopkins, Leslie E Lehmann, Annick Lim, Wendy B London, Johannes C M van der Loo, Nirav Malani, Frances Male, Punam Malik, M Angélica Marinovic, Anne-Marie McNicol, Despina Moshous, Benedicte Neven, Matías Oleastro, Capucine Picard, Jerome Ritz, Christine Rivat, Axel Schambach, Kit L Shaw, Eric A Sherman, Leslie E Silberstein, Emmanuelle Six, Fabien Touzot, Alla Tsytsykova, Jinhua Xu-Bayford, Christopher Baum, Frederic D Bushman, Alain Fischer, Donald B Kohn, Alexandra H Filipovich, Luigi D Notarangelo, Marina Cavazzana, David A Williams, Adrian J Thrasher,

<h4>Background</h4>In previous clinical trials involving children with X-linked severe combined immunodeficiency (SCID-X1), a Moloney murine leukemia virus-based γ-retrovirus vector expressing interleukin-2 receptor γ-chain (γc) complementary DNA successfully restored immunity in most patients but resulted in vector-induced leukemia through enhancer-mediated mutagenesis in 25% of patients. We assessed the efficacy and safety ... Read more >>

N Engl J Med (The New England journal of medicine)
[2014, 371(15):1407-1417]

Cited: 170 times

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Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.

Koichi Oshima, Kohsuke Imai, Michael H Albert, Tanja C Bittner, Gabriele Strauss, Alexandra H Filipovich, Tomohiro Morio, Neena Kapoor, Jignesh Dalal, Kirk R Schultz, James T Casper, Luigi D Notarangelo, Hans D Ochs, Shigeaki Nonoyama,

X-linked thrombocytopenia (XLT) is a mild form of the Wiskott-Aldrich syndrome (WAS) caused by mutations in the WAS gene. A recent retrospective study of the clinical outcome and molecular basis of a large cohort of XLT patients demonstrated that although overall survival is excellent, event free survival is severely affected ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2015, 35(1):15-21]

Cited: 9 times

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Bortezomib for refractory autoimmunity in pediatrics.

Pooja Khandelwal, Stella M Davies, Michael S Grimley, Michael B Jordan, Brian R Curtis, Sonata Jodele, Rebecca Marsh, Alexandra H Filipovich,

Therapy of refractory autoimmunity remains challenging. In this study, we evaluated the therapeutic effect of bortezomib, a proteasome inhibitor, by targeting plasma cells in 7 patients (median age, 9.9 years). Four doses of bortezomib were administered at a dose of 1.3 mg/m(2) intravenously (n = 6) or subcutaneously (n = 1) every ... Read more >>

Biol Blood Marrow Transplant (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation)
[2014, 20(10):1654-1659]

Cited: 17 times

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Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

Sung-Yun Pai, Brent R Logan, Linda M Griffith, Rebecca H Buckley, Roberta E Parrott, Christopher C Dvorak, Neena Kapoor, Imelda C Hanson, Alexandra H Filipovich, Soma Jyonouchi, Kathleen E Sullivan, Trudy N Small, Lauri Burroughs, Suzanne Skoda-Smith, Ann E Haight, Audrey Grizzle, Michael A Pulsipher, Ka Wah Chan, Ramsay L Fuleihan, Elie Haddad, Brett Loechelt, Victor M Aquino, Alfred Gillio, Jeffrey Davis, Alan Knutsen, Angela R Smith, Theodore B Moore, Marlis L Schroeder, Frederick D Goldman, James A Connelly, Matthew H Porteus, Qun Xiang, William T Shearer, Thomas A Fleisher, Donald B Kohn, Jennifer M Puck, Luigi D Notarangelo, Morton J Cowan, Richard J O'Reilly,

<h4>Background</h4>The Primary Immune Deficiency Treatment Consortium was formed to analyze the results of hematopoietic-cell transplantation in children with severe combined immunodeficiency (SCID) and other primary immunodeficiencies. Factors associated with a good transplantation outcome need to be identified in order to design safer and more effective curative therapy, particularly for children ... Read more >>

N Engl J Med (The New England journal of medicine)
[2014, 371(5):434-446]

Cited: 237 times

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Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.

Kejian Zhang, Shanmuganathan Chandrakasan, Heather Chapman, C Alexander Valencia, Ammar Husami, Diane Kissell, Judith A Johnson, Alexandra H Filipovich,

Several molecules (LYST, AP3, RAB27A, STX11, STXBP2, MUNC13-4, and PRF1) have been associated with the function of cytotoxic lymphocytes. Biallelic defects in all of these molecules have been associated with familial hemophagocytic lymphohistiocytosis (FHL). We retrospectively reviewed the genetic and immunology test results from 2701 patients with a clinically suspected ... Read more >>

Blood (Blood)
[2014, 124(8):1331-1334]

Cited: 69 times

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Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked lymphoproliferative disease type 1.

Rebecca A Marsh, Jack J Bleesing, Shanmuganathan Chandrakasan, Michael B Jordan, Stella M Davies, Alexandra H Filipovich,

X-linked lymphoproliferative disease type 1 (XLP1) is a rare immune deficiency caused by mutations in SH2D1A. Allogeneic hematopoietic cell transplantation (HCT) is often performed because of the morbidity and mortality associated with XLP1. There is limited experience using reduced-intensity conditioning (RIC) regimens for these patients. Here we report our 8-year ... Read more >>

Biol Blood Marrow Transplant (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation)
[2014, 20(10):1641-1645]

Cited: 17 times

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Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts.

, William T Shearer, Thomas A Fleisher, Rebecca H Buckley, Zuhair Ballas, Mark Ballow, R Michael Blaese, Francisco A Bonilla, Mary Ellen Conley, Charlotte Cunningham-Rundles, Alexandra H Filipovich, Ramsay Fuleihan, Erwin W Gelfand, Vivian Hernandez-Trujillo, Steven M Holland, Richard Hong, Howard M Lederman, Harry L Malech, Stephen Miles, Luigi D Notarangelo, Hans D Ochs, Jordan S Orange, Jennifer M Puck, John M Routes, E Richard Stiehm, Kathleen Sullivan, Troy Torgerson, Jerry Winkelstein,

The present uncertainty of which live viral or bacterial vaccines can be given to immunodeficient patients and the growing neglect of societal adherence to routine immunizations has prompted the Medical Advisory Committee of the Immune Deficiency Foundation to issue recommendations based on published literature and the collective experience of the ... Read more >>

J Allergy Clin Immunol (The Journal of allergy and clinical immunology)
[2014, 133(4):961-966]

Cited: 54 times

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Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.

Carrie E Gifford, Elizabeth Weingartner, Joyce Villanueva, Judith Johnson, Kejian Zhang, Alexandra H Filipovich, Jack J Bleesing, Rebecca A Marsh,

<h4>Introduction</h4>X-linked lymphoproliferative disease is caused by mutations in two genes, SH2D1A and XIAP/BIRC4. Flow cytometric methods have been developed to detect the gene products, SAP and XIAP. However, there is no literature describing the accuracy of flow cytometric screening performed in a clinical lab setting.<h4>Methods</h4>We reviewed the clinical flow cytometric ... Read more >>

Cytometry B Clin Cytom (Cytometry. Part B, Clinical cytometry)
[2014, 86(4):263-271]

Cited: 15 times

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