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T follicular helper cell expansion and chronic T cell activation are characteristic immune anomalies in Evans syndrome.

Deepak Kumar, Chengyu Prince, Carolyn M Bennett, Michael Briones, Laura Lucas, Athena Liza Russell, Kiran Patel, Satheesh Chonat, Sara Graciaa, Holly Edington, Michael H White, Lisa Kobrynski, Manar Abdalgani, Suhag H Parikh, Sharat Chandra, Jack Bleesing, Rebecca A Marsh, Sunita Park, Edmund K Waller, Sampath Prahalad, Shanmuganathan Chandrakasan,

Pediatric Evans syndrome (pES) is increasingly identified as the presenting manifestation of several inborn errors of immunity (IEI). Despite an improved understanding of genetic defects in pES, the underlying immunobiology of pES is poorly defined, and characteristic diagnostic immune parameters are lacking. We describe the immune characteristics of 24 patients ... Read more >>

Blood (Blood)
[2021, :]

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Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.

Jahnavi Aluri, Alicia Bach, Saara Kaviany, Luana Chiquetto Paracatu, Maleewan Kitcharoensakkul, Magdalena A Walkiewicz, Christopher D Putnam, Marwan Shinawi, Nermina Saucier, Elise M Rizzi, Michael T Harmon, Molly P Keppel, Michelle Ritter, Morgan Similuk, Elaine Kulm, Michael Joyce, Adriana A de Jesus, Raphaela Goldbach-Mansky, Yi-Shan Lee, Marina Cella, Peggy L Kendall, Mary C Dinauer, Jeffrey J Bednarski, Christina Bemrich-Stolz, Scott W Canna, Shirley M Abraham, Matthew M Demczko, Jonathan Powell, Stacie M Jones, Amy M Scurlock, Suk See De Ravin, Jack J Bleesing, James A Connelly, V Koneti Rao, Laura G Schuettpelz, Megan A Cooper,

Inborn errors of immunity (IEI) are a genetically heterogeneous group of disorders with a broad clinical spectrum. Identification of molecular and functional bases of these disorders is important for diagnosis, treatment, and an understanding of the human immune response. We identified 6 unrelated males with neutropenia, infections, lymphoproliferation, humoral immune ... Read more >>

Blood (Blood)
[2021, 137(18):2450-2462]

Cited: 4 times

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Human Papillomavirus Oral- and Sero- Positivity in Fanconi Anemia.

Sharon L Sauter, Xue Zhang, Lindsey Romick-Rosendale, Susanne I Wells, Kasiani C Myers, Marion G Brusadelli, Charles B Poff, Darron R Brown, Gitika Panicker, Elizabeth R Unger, Parinda A Mehta, Jack Bleesing, Stella M Davies, Melinda Butsch Kovacic,

High-risk human papillomavirus (HPV) is prevalent and known to cause 5% of all cancers worldwide. The rare, cancer prone Fanconi anemia (FA) population is characterized by a predisposition to both head and neck squamous cell carcinomas and gynecological cancers, but the role of HPV in these cancers remains unclear. Prompted ... Read more >>

Cancers (Basel) (Cancers)
[2021, 13(6):]

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Experience with a Reduced Toxicity Allogeneic Transplant Regimen for Non-CGD Primary Immune Deficiencies Requiring Myeloablation.

Sharat Chandra, Shanmuganathan Chandrakasan, Blachy J Dávila Saldaña, Jack J Bleesing, Michael B Jordan, Ashish R Kumar, Michael S Grimley, Christa Krupski, Stella M Davies, Pooja Khandelwal, Rebecca A Marsh,

<h4>Purpose</h4>A need exists for reduced toxicity conditioning regimens that offer less toxicity while maintaining myeloablation, especially for primary immune deficiencies where myeloablation or high donor myeloid chimerism is required to achieve cure. We adapted a busulfan and fludarabine regimen by Gungor et al. for children and young adults undergoing allogeneic ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2021, 41(1):89-98]

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Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.

Rebecca A Marsh, Jennifer W Leiding, Brent R Logan, Linda M Griffith, Danielle E Arnold, Elie Haddad, E Liana Falcone, Ziyan Yin, Kadam Patel, Erin Arbuckle, Jack J Bleesing, Kathleen E Sullivan, Jennifer Heimall, Lauri M Burroughs, Suzanne Skoda-Smith, Shanmuganathan Chandrakasan, Lolie C Yu, Benjamin R Oshrine, Geoffrey D E Cuvelier, Monica S Thakar, Karin Chen, Pierre Teira, Shalini Shenoy, Rachel Phelan, Lisa R Forbes, Caridad Martinez, Deepak Chellapandian, Blachy J Dávila Saldaña, Ami J Shah, Katja G Weinacht, Avni Joshi, Farid Boulad, Troy C Quigg, Christopher C Dvorak, Debi Grossman, Troy Torgerson, Pamela Graham, Vinod Prasad, Alan Knutsen, Hey Chong, Holly Miller, M Teresa de la Morena, Kenneth DeSantes, Morton J Cowan, Luigi D Notarangelo, Donald B Kohn, Elizabeth Stenger, Sung-Yun Pai, John M Routes, Jennifer M Puck, Neena Kapoor, Michael A Pulsipher, Harry L Malech, Suhag Parikh, Elizabeth M Kang, ,

The original version of this article unfortunately contained the missing author, Caridad Martinez. The authors would like to correct the list. We apologize for any inconvenience that this may have caused. The correct author list is shown above. ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2020, 40(8):1211-1213]

Cited: 0 times

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Successful Response to Treatment with Sirolimus in Pulmonary Sarcoidosis.

Nishant Gupta, Jack H Bleesing, Francis X McCormack,

Am J Respir Crit Care Med (American journal of respiratory and critical care medicine)
[2020, 202(9):e119-e120]

Cited: 0 times

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Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease.

Maurizio Miano, Annalisa Madeo, Enrico Cappelli, Federica Lanza, Tiziana Lanza, Marina Stroppiano, Paola Terranova, Roberta Venè, Jack J H Bleesing, Maja Di Rocco,

<h4>Background</h4>Gaucher disease (GD) is a rare disorder characterized by defective function of β-glucocerebrosidase, which leads to progressive accumulation of its substrate in various organs, particularly the mononuclear phagocyte system. Hepatosplenomegaly and cytopenia represent the disease's most common features, but patients with GD also show hyperinflammation, hypergammaglobulinemia, and immune dysregulation involving ... Read more >>

J Allergy Clin Immunol Pract (The journal of allergy and clinical immunology. In practice)
[2020, 8(10):3535-3542]

Cited: 0 times

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Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.

Lauri M Burroughs, Aleksandra Petrovic, Ruta Brazauskas, Xuerong Liu, Linda M Griffith, Hans D Ochs, Jack J Bleesing, Stephanie Edwards, Christopher C Dvorak, Sonali Chaudhury, Susan E Prockop, Ralph Quinones, Frederick D Goldman, Troy C Quigg, Shanmuganathan Chandrakasan, Angela R Smith, Suhag Parikh, Blachy J Dávila Saldaña, Monica S Thakar, Rachel Phelan, Shalini Shenoy, Lisa R Forbes, Caridad Martinez, Deepak Chellapandian, Evan Shereck, Holly K Miller, Neena Kapoor, Jessie L Barnum, Hey Chong, David C Shyr, Karin Chen, Rolla Abu-Arja, Ami J Shah, Katja G Weinacht, Theodore B Moore, Avni Joshi, Kenneth B DeSantes, Alfred P Gillio, Geoffrey D E Cuvelier, Michael D Keller, Jacob Rozmus, Troy Torgerson, Michael A Pulsipher, Elie Haddad, Kathleen E Sullivan, Brent R Logan, Donald B Kohn, Jennifer M Puck, Luigi D Notarangelo, Sung-Yun Pai, David J Rawlings, Morton J Cowan,

Wiskott-Aldrich syndrome (WAS) is an X-linked disease caused by mutations in the WAS gene, leading to thrombocytopenia, eczema, recurrent infections, autoimmune disease, and malignancy. Hematopoietic cell transplantation (HCT) is the primary curative approach, with the goal of correcting the underlying immunodeficiency and thrombocytopenia. HCT outcomes have improved over time, particularly ... Read more >>

Blood (Blood)
[2020, 135(23):2094-2105]

Cited: 14 times

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Thinking Beyond HLH: Clinical Features of Patients with Concurrent Presentation of Hemophagocytic Lymphohistiocytosis and Thrombotic Microangiopathy.

Nicholas J Gloude, Christopher E Dandoy, Stella M Davies, Kasiani C Myers, Michael B Jordan, Rebecca A Marsh, Ashish Kumar, Jack Bleesing, Ashley Teusink-Cross, Sonata Jodele,

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of excessive immune system activation driven mainly by high levels of interferon gamma. The clinical presentation of HLH can have considerable overlap with other inflammatory conditions. We present a cohort of patients with therapy refractory HLH referred to our center who were found to ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2020, 40(5):699-707]

Cited: 5 times

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Complement blockade for TA-TMA: lessons learned from a large pediatric cohort treated with eculizumab.

Sonata Jodele, Christopher E Dandoy, Adam Lane, Benjamin L Laskin, Ashley Teusink-Cross, Kasiani C Myers, Gregory Wallace, Adam Nelson, Jack Bleesing, Ranjit S Chima, Russel Hirsch, Thomas D Ryan, Stefanie Benoit, Kana Mizuno, Mikako Warren, Stella M Davies,

Overactivated complement is a high-risk feature in hematopoietic stem cell transplant (HSCT) recipients with transplant-associated thrombotic microangiopathy (TA-TMA), and untreated patients have dismal outcomes. We present our experience with 64 pediatric HSCT recipients who had high-risk TA-TMA (hrTA-TMA) and multiorgan injury treated with the complement blocker eculizumab. We demonstrate significant ... Read more >>

Blood (Blood)
[2020, 135(13):1049-1057]

Cited: 28 times

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The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1).

Erinn S Kellner, Pamela A Rathbun, Gary S Marshall, Leandra K Tolusso, Teresa A Smolarek, Miao Sun, Sharat Chandra, Jack Bleesing, Rebecca A Marsh,

J Clin Immunol (Journal of clinical immunology)
[2019, 39(8):857-859]

Cited: 2 times

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Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.

Rebecca A Marsh, Jennifer W Leiding, Brent R Logan, Linda M Griffith, Danielle E Arnold, Elie Haddad, E Liana Falcone, Ziyan Yin, Kadam Patel, Erin Arbuckle, Jack J Bleesing, Kathleen E Sullivan, Jennifer Heimall, Lauri M Burroughs, Suzanne Skoda-Smith, Shanmuganathan Chandrakasan, Lolie C Yu, Benjamin R Oshrine, Geoffrey D E Cuvelier, Monica S Thakar, Karin Chen, Pierre Teira, Shalini Shenoy, Rachel Phelan, Lisa R Forbes, Deepak Chellapandian, Blachy J Dávila Saldaña, Ami J Shah, Katja G Weinacht, Avni Joshi, Farid Boulad, Troy C Quigg, Christopher C Dvorak, Debi Grossman, Troy Torgerson, Pamela Graham, Vinod Prasad, Alan Knutsen, Hey Chong, Holly Miller, M Teresa de la Morena, Kenneth DeSantes, Morton J Cowan, Luigi D Notarangelo, Donald B Kohn, Elizabeth Stenger, Sung-Yun Pai, John M Routes, Jennifer M Puck, Neena Kapoor, Michael A Pulsipher, Harry L Malech, Suhag Parikh, Elizabeth M Kang, ,

<h4>Introduction</h4>Inflammatory bowel disease (IBD) affects approximately 1/3 of patients with chronic granulomatous disease (CGD). Comprehensive investigation of the effect of allogeneic hematopoietic cell transplantation (HCT) on CGD IBD and the impact of IBD on transplant outcomes is lacking.<h4>Methods</h4>We collected data retrospectively from 145 patients with CGD who had received allogeneic ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2019, 39(7):653-667]

Cited: 7 times

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Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.

Samuel Cern Cher Chiang, Jack J Bleesing, Rebecca A Marsh,

Advances in flow cytometry have led to greatly improved primary immunodeficiency (PID) diagnostics. This is due to the fact that patient blood cells in suspension do not require further processing for analysis by flow cytometry, and many PIDs lead to alterations in leukocyte numbers, phenotype, and function. A large portion ... Read more >>

Front Immunol (Frontiers in immunology)
[2019, 10:1740]

Cited: 2 times

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Functional reprogramming of regulatory T cells in the absence of Foxp3.

Louis-Marie Charbonnier, Ye Cui, Emmanuel Stephen-Victor, Hani Harb, David Lopez, Jack J Bleesing, Maria I Garcia-Lloret, Karin Chen, Ahmet Ozen, Peter Carmeliet, Ming O Li, Matteo Pellegrini, Talal A Chatila,

Regulatory T cells (T<sub>reg</sub> cells) deficient in the transcription factor Foxp3 lack suppressor function and manifest an effector T (T<sub>eff</sub>) cell-like phenotype. We demonstrate that Foxp3 deficiency dysregulates metabolic checkpoint kinase mammalian target of rapamycin (mTOR) complex 2 (mTORC2) signaling and gives rise to augmented aerobic glycolysis and oxidative phosphorylation. ... Read more >>

Nat Immunol (Nature immunology)
[2019, 20(9):1208-1219]

Cited: 28 times

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Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening.

Pooja Purswani, Cristina Adelia Meehan, Hye Sun Kuehn, Yenhui Chang, Joseph F Dasso, Anna K Meyer, Boglarka Ujhazi, Krisztian Csomos, David Lindsay, Taylor Alberdi, Sonia Joychan, Jessica Trotter, Carla Duff, Maryssa Ellison, Jack Bleesing, Attila Kumanovics, Anne M Comeau, Jaime E Hale, Luigi D Notarangelo, Troy R Torgersen, Hans D Ochs, Panida Sriaroon, Benjamin Oshrine, Aleksandra Petrovic, Sergio D Rosenzweig, Jennifer W Leiding, Jolan E Walter,

In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked interleukin 2 receptor gamma chain (IL2RG) and adenosine deaminase (ADA) deficiency SCID are two of ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2019, 7:55]

Cited: 4 times

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Loss of GTPase of immunity-associated protein 5 (Gimap5) promotes pathogenic CD4+ T-cell development and allergic airway disease.

Andrew R Patterson, Paige Bolcas, Kristin Lampe, Rachel Cantrell, Brandy Ruff, Ian Lewkowich, Simon P Hogan, Edith M Janssen, Jack Bleesing, Gurjit K Khurana Hershey, Kasper Hoebe,

<h4>Background</h4>GTPase of immunity-associated protein 5 (GIMAP5) is essential for lymphocyte homeostasis and survival. Recently, human GIMAP5 single nucleotide polymorphisms have been linked to an increased risk for asthma, whereas loss of Gimap5 in mice has been associated with severe CD4<sup>+</sup> T cell-driven immune pathology.<h4>Objective</h4>We sought to identify the molecular and ... Read more >>

J Allergy Clin Immunol (The Journal of allergy and clinical immunology)
[2019, 143(1):245-257.e6]

Cited: 4 times

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SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.

Elie Haddad, Brent R Logan, Linda M Griffith, Rebecca H Buckley, Roberta E Parrott, Susan E Prockop, Trudy N Small, Jessica Chaisson, Christopher C Dvorak, Megan Murnane, Neena Kapoor, Hisham Abdel-Azim, Imelda C Hanson, Caridad Martinez, Jack J H Bleesing, Sharat Chandra, Angela R Smith, Matthew E Cavanaugh, Soma Jyonouchi, Kathleen E Sullivan, Lauri Burroughs, Suzanne Skoda-Smith, Ann E Haight, Audrey G Tumlin, Troy C Quigg, Candace Taylor, Blachy J Dávila Saldaña, Michael D Keller, Christine M Seroogy, Kenneth B Desantes, Aleksandra Petrovic, Jennifer W Leiding, David C Shyr, Hélène Decaluwe, Pierre Teira, Alfred P Gillio, Alan P Knutsen, Theodore B Moore, Morris Kletzel, John A Craddock, Victor Aquino, Jeffrey H Davis, Lolie C Yu, Geoffrey D E Cuvelier, Jeffrey J Bednarski, Frederick D Goldman, Elizabeth M Kang, Evan Shereck, Matthew H Porteus, James A Connelly, Thomas A Fleisher, Harry L Malech, William T Shearer, Paul Szabolcs, Monica S Thakar, Mark T Vander Lugt, Jennifer Heimall, Ziyan Yin, Michael A Pulsipher, Sung-Yun Pai, Donald B Kohn, Jennifer M Puck, Morton J Cowan, Richard J O'Reilly, Luigi D Notarangelo,

The Primary Immune Deficiency Treatment Consortium (PIDTC) performed a retrospective analysis of 662 patients with severe combined immunodeficiency (SCID) who received a hematopoietic cell transplantation (HCT) as first-line treatment between 1982 and 2012 in 33 North American institutions. Overall survival was higher after HCT from matched-sibling donors (MSDs). Among recipients ... Read more >>

Blood (Blood)
[2018, 132(17):1737-1749]

Cited: 49 times

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Screening for Wiskott-Aldrich syndrome by flow cytometry.

Samuel C C Chiang, Sue M Vergamini, Ammar Husami, Lisa Neumeier, Kathryn Quinn, Teresa Ellerhorst, Linda Sheppard, Carrie Gifford, David Buchbinder, Avni Joshi, Marianne Ifversen, Gary I Kleiner, James B Bussel, Shanmuganathan Chandrakasan, Robert D Pesek, Tamara C Pozos, Melissa J Rose, Amy M Scurlock, Kejian Zhang, Yenan T Bryceson, Jack Bleesing, Rebecca A Marsh,

J Allergy Clin Immunol (The Journal of allergy and clinical immunology)
[2018, 142(1):333-335.e8]

Cited: 2 times

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Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients.

Jennifer R Heimall, David Hagin, Joud Hajjar, Sarah E Henrickson, Hillary S Hernandez-Trujillo, Yuval Itan, Lisa Kobrynski, Kenneth Paris, Troy R Torgerson, James W Verbsky, Richard L Wasserman, Elena W Y Hsieh, Jack J Bleesing, Janet S Chou, Monica G Lawrence, Rebecca A Marsh, Sergio D Rosenzweig, Jordan S Orange, Roshini S Abraham,

The original version of this article unfortunately contained mistakes in some of the author names and affiliations. The correct list of author names and affiliations is below, with the corrections in bold. ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2018, 38(4):540-541]

Cited: 0 times

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Suspected thrombotic microangiopathy in a child with Epstein-Barr virus-induced hemophagocytic lymphohistiocytosis.

Margaret C Cupit-Link, Mira A Kohorst, Cheryl L Tran, Jack J Bleesing, Paul J Galardy, Thomas G Boyce,

Pediatr Blood Cancer (Pediatric blood & cancer)
[2018, 65(6):e27002]

Cited: 1 time

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Post-Transplant CD34+ Selected Stem Cell "Boost" for Mixed Chimerism after Reduced-Intensity Conditioning Hematopoietic Stem Cell Transplantation in Children and Young Adults with Primary Immune Deficiencies.

Sharat Chandra, Jack J Bleesing, Michael B Jordan, Michael S Grimley, Pooja Khandelwal, Stella M Davies, Stephanie Edwards, Tom Leemhuis, Rebecca A Marsh,

Mixed chimerism and eventual graft loss occurs in a proportion of children with primary immune deficiencies receiving alemtuzumab, fludarabine, and melphalan reduced-intensity conditioning (RIC) regimens before allogeneic hematopoietic stem cell transplantation (HSCT). We investigated the usefulness of a CD34+ selected stem cell "boost" without conditioning to treat mixed chimerism in ... Read more >>

Biol Blood Marrow Transplant (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation)
[2018, 24(7):1527-1529]

Cited: 2 times

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Gimap5-dependent inactivation of GSK3β is required for CD4+ T cell homeostasis and prevention of immune pathology.

Andrew R Patterson, Mehari Endale, Kristin Lampe, Halil I Aksoylar, Aron Flagg, Jim R Woodgett, David Hildeman, Michael B Jordan, Harinder Singh, Zeynep Kucuk, Jack Bleesing, Kasper Hoebe,

GTPase of immunity-associated protein 5 (Gimap5) is linked with lymphocyte survival, autoimmunity, and colitis, but its mechanisms of action are unclear. Here, we show that Gimap5 is essential for the inactivation of glycogen synthase kinase-3β (GSK3β) following T cell activation. In the absence of Gimap5, constitutive GSK3β activity constrains c-Myc ... Read more >>

Nat Commun (Nature communications)
[2018, 9(1):430]

Cited: 12 times

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Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Federica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, Silvia Ricci, Zeynep Yesim Kucuk, Jack J Bleesing, Zohreh Nademi, Mary Anne Slatter, Erlinda Rose Ulloa, Anna Shcherbina, Anna Roppelt, Austen Worth, Juliana Silva, Alessandro Aiuti, Luis Murguia-Favela, Carsten Speckmann, Magda Carneiro-Sampaio, Juliana Folloni Fernandes, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Ayca Kiykim, Ansgar Schulz, Sandra Steinmann, Lucia Dora Notarangelo, Eleonora Gambineri, Paolo Lionetti, William Thomas Shearer, Lisa R Forbes, Caridad Martinez, Despina Moshous, Stephane Blanche, Alain Fisher, Frank M Ruemmele, Come Tissandier, Marie Ouachee-Chardin, Frédéric Rieux-Laucat, Marina Cavazzana, Waseem Qasim, Barbarella Lucarelli, Michael H Albert, Ichiro Kobayashi, Laura Alonso, Cristina Diaz De Heredia, Hirokazu Kanegane, Anita Lawitschka, Jong Jin Seo, Marta Gonzalez-Vicent, Miguel Angel Diaz, Rakesh Kumar Goyal, Martin G Sauer, Akif Yesilipek, Minsoo Kim, Yesim Yilmaz-Demirdag, Monica Bhatia, Julie Khlevner, Erick J Richmond Padilla, Silvana Martino, Davide Montin, Olaf Neth, Agueda Molinos-Quintana, Justo Valverde-Fernandez, Arnon Broides, Vered Pinsk, Antje Ballauf, Filomeen Haerynck, Victoria Bordon, Catharina Dhooge, Maria Laura Garcia-Lloret, Robbert G Bredius, Krzysztof Kałwak, Elie Haddad, Markus Gerhard Seidel, Gregor Duckers, Sung-Yun Pai, Christopher C Dvorak, Stephan Ehl, Franco Locatelli, Frederick Goldman, Andrew Richard Gennery, Mort J Cowan, Maria-Grazia Roncarolo, Rosa Bacchetta, ,

BACKGROUND:Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. OBJECTIVE:This analysis sought to evaluate disease onset, progression, ... Read more >>

J Allergy Clin Immunol (The Journal of allergy and clinical immunology)
[2018, 141(3):1036-1049.e5]

Cited: 50 times

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Autoimmune Lymphoproliferative Syndrome

Jack JH Bleesing, Chinmayee B Nagaraj, Kejian Zhang,

<h4>Clinical characteristics</h4>Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and ... Read more >>

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Persistent Enteropathy in a Toddler with a Novel FOXP3 Mutation and Normal FOXP3 Protein Expression.

Sara Seghezzo, Jack J Bleesing, Zeynep Yesim Kucuk,

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is caused by mutations in the FOXP3 gene. Patients usually present with a clinical triad of intractable diarrhea, diabetes, and eczema. In this patient, FOXP3 protein expression was normal, but FOXP3 Sanger sequencing confirmed the clinical suspicion of IPEX by detecting a previously ... Read more >>

J Pediatr (The Journal of pediatrics)
[2017, 186:183-185]

Cited: 1 time

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