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Select item 103541741.

JAKi Salvage Therapy Followed by Curative Cord Blood Transplantation in a XIAP-Deficient Infant with Relapsing HLH

Maria Elena Maccari, Camille Tron, Carsten Speckmann, the HSCT HLH study group

J Clin Immunol. 2023; 43(6): 1178–1181. Published online 2023 May 20. doi: 10.1007/s10875-023-01522-7

PMCID:: PMC10354174

Article PDF–570K

Select item 94655902.

Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients

Jiafeng Yao, Hao Gu, Wenjun Mou, Zhenping Chen, Jie Ma, Honghao Ma, Nan Li, Rui Zhang, Tianyou Wang, Jin Jiang, Runhui Wu

Int J Immunopathol Pharmacol. 2022 Jan-Dec; 36: 03946320221125591. Published online 2022 Sep 8. doi: 10.1177/03946320221125591

PMCID:: PMC9465590

Abstract Article PDF–1.7M

Select item 89421433.

Hemophagocytic Lymphohistiocytosis and Infection: A Literature Review

Evgenia Koumadoraki, Nikolaos Madouros, Shayka Sharif, Amber Saleem, Sommer Jarvis, Safeera Khan

Cureus. 2022 Feb; 14(2): e22411. Published online 2022 Feb 20. doi: 10.7759/cureus.22411

PMCID:: PMC8942143

Abstract Article PDF–184K

Select item 85075414.

Epstein–Barr Virus in Inborn Immunodeficiency—More Than Infection

Ciro Novaes Rosa Lino, Sujal Ghosh

Cancers (Basel) 2021 Oct; 13(19): 4752. Published online 2021 Sep 23. doi: 10.3390/cancers13194752

PMCID:: PMC8507541

Abstract Article PDF–786K

Select item 84786345.

Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD

Danielle E. Arnold, Rofida Nofal, Connor Wakefield, Kai Lehmberg, Katharina Wustrau, Michael H. Albert, Emma C. Morris, Jennifer R. Heimall, Nancy J. Bunin, Ashish Kumar, Michael B. Jordan, Theresa Cole, Sharon Choo, Tim Brettig, Carsten Speckmann, Stephan Ehl, Malgorzata Salamonowicz, Justin Wahlstrom, Kanchan Rao, Claire Booth, Austen Worth, Rebecca A. Marsh

J Clin Immunol. 2022; 42(1): 36–45. Published online 2021 Sep 29. doi: 10.1007/s10875-021-01103-6

PMCID:: PMC8478634

Abstract Article PDF–737K

Select item 83827206.

Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management

Marta López-Nevado, Luis I. González-Granado, Raquel Ruiz-García, Daniel Pleguezuelo, Oscar Cabrera-Marante, Nerea Salmón, Pilar Blanco-Lobo, Nerea Domínguez-Pinilla, Rebeca Rodríguez-Pena, Elena Sebastián, Jaime Cruz-Rojo, Peter Olbrich, Jesús Ruiz-Contreras, Estela Paz-Artal, Olaf Neth, Luis M. Allende

Front Immunol. 2021; 12: 671755. Published online 2021 Aug 10. doi: 10.3389/fimmu.2021.671755

PMCID:: PMC8382720

Abstract Article PDF–2.9M

Select item 83690307.

X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children—A Case Report

Seraina Prader, Nicole Ritz, Frédéric Baleydier, Maya C. Andre, Noémie Stähli, Kevin Schmid, Hanna Schmid, Andreas Woerner, Tamara Diesch, Patrick M. Meyer Sauteur, Johannes Trück, Fabienne Gebistorf, Lennart Opitz, Michael P. Killian, Tommaso Marchetti, Stefano Vavassori, Géraldine Blanchard-Rohner, Valerie Mc Lin, Serge Grazioli, Jana Pachlopnik Schmid

Front Pediatr. 2021; 9: 691024. Published online 2021 Aug 3. doi: 10.3389/fped.2021.691024

PMCID:: PMC8369030

Abstract Article PDF–416K

Select item 82475948.

Evolution of Our Understanding of XIAP Deficiency

Anne C. A. Mudde, Claire Booth, Rebecca A. Marsh

Front Pediatr. 2021; 9: 660520. Published online 2021 Jun 17. doi: 10.3389/fped.2021.660520

PMCID:: PMC8247594

Abstract Article PDF–1.3M

Select item 82123549.

Pediatric hemophagocytic lymphohistiocytosis

Scott W. Canna, Rebecca A. Marsh

Blood. 2020 Apr 16; 135(16): 1332–1343. Prepublished online 2020 Feb 27. doi: 10.1182/blood.2019000936

PMCID:: PMC8212354

Abstract Article

Select item 753114110.

Epstein–Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis protein (XIAP) variant: a case report

Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Zhen-Jiang Bai, Ying Li

BMC Pediatr. 2020; 20: 456. Published online 2020 Oct 2. doi: 10.1186/s12887-020-02359-4

PMCID:: PMC7531141

Abstract Article PDF–990K

Select item 749728911.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 747436012.

The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor

Yike Jiang, Mihail Firan, Sarada L. Nandiwada, Anaid Reyes, Rebecca A. Marsh, Tiphanie P. Vogel, Joud Hajjar

Case Reports Immunol. 2020; 2020: 8841571. Published online 2020 Aug 26. doi: 10.1155/2020/8841571

PMCID:: PMC7474360

Abstract Article PDF–2.6M

Select item 710190513.

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan

Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara, Hiroshi Tsujimoto, Taizo Wada, Reiko Kunisaki, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane

J Clin Immunol. 2017; 37(1): 85–91. Published online 2016 Nov 4. doi: 10.1007/s10875-016-0348-4

PMCID:: PMC7101905

Abstract Article PDF–473K

Select item 655722414.

Achieving consensus advice for paediatricians and other health professionals: on prevention, recognition and management of conflict in paediatric practice

Mike Linney, Richard D W Hain, Dominic Wilkinson, Peter-Marc Fortune, Sarah Barclay, Vic Larcher, Jacqueline Fitzgerald, Emily Arkell

Arch Dis Child. 2019 May; 104(5): 413–416. Published online 2019 Apr 18. doi: 10.1136/archdischild-2018-316485

PMCID:: PMC6557224

Article PDF–215K

Select item 623690415.

Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1

Akihiro Tamura, Suguru Uemura, Nobuyuki Yamamoto, Atsuro Saito, Aiko Kozaki, Kenji Kishimoto, Toshiaki Ishida, Daiichiro Hasegawa, Haruka Hiroki, Tsubasa Okano, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane, Yoshiyuki Kosaka

Allergy Asthma Clin Immunol. 2018; 14: 82. Published online 2018 Nov 14. doi: 10.1186/s13223-018-0306-1

PMCID:: PMC6236904

Abstract Article PDF–851K

Select item 600476816.

Inherited Immunodeficiencies With High Predisposition to Epstein–Barr Virus-Driven Lymphoproliferative Diseases

Sylvain Latour, Sarah Winter

Front Immunol. 2018; 9: 1103. Published online 2018 Jun 4. doi: 10.3389/fimmu.2018.01103

PMCID:: PMC6004768

Abstract Article PDF–423K

Select item 589376417.

X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective

Neelam Panchal, Claire Booth, Jennifer L. Cannons, Pamela L. Schwartzberg

Front Immunol. 2018; 9: 666. Published online 2018 Apr 4. doi: 10.3389/fimmu.2018.00666

PMCID:: PMC5893764

Abstract Article PDF–1.2M

Select item 578580118.

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

Blood. 2017 Dec 21; 130(25): 2728–2738. Prepublished online 2017 Sep 21. doi: 10.1182/blood-2017-06-788349

PMCID:: PMC5785801

Abstract Article

Select item 516255019.

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes

Rebecca A. Marsh, Kanchan Rao, Prakash Satwani, Kai Lehmberg, Ingo Müller, Dandan Li, Mi-Ok Kim, Alain Fischer, Sylvain Latour, Petr Sedlacek, Vincent Barlogis, Kazuko Hamamoto, Hirokazu Kanegane, Sam Milanovich, David A. Margolis, David Dimmock, James Casper, Dorothea N. Douglas, Persis J. Amrolia, Paul Veys, Ashish R. Kumar, Michael B. Jordan, Jack J. Bleesing, Alexandra H. Filipovich

Blood. 2013 Feb 7; 121(6): 877–883. Prepublished online 2012 Nov 6. doi: 10.1182/blood-2012-06-432500

PMCID:: PMC5162550

Abstract Article

Select item 475819020.

Frequent Mutations in SH2D1A (XLP) in Males Presenting With High-Grade Mature B-Cell Neoplasms

J.T. Sandlund, S.A. Shurtleff, M. Onciu, E. Horwitz, W. Leung, V. Howard, R. Rencher, M.E. Conley

Pediatr Blood Cancer. Author manuscript; available in PMC 2016 Feb 18.

Published in final edited form as: Pediatr Blood Cancer. 2013 Sep; 60(9): E85–E87. Published online 2013 Apr 15. doi: 10.1002/pbc.24525

PMCID:: PMC4758190

Abstract Article PDF–69K

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