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Literature DB >> 30193840

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018).

Christopher C Dvorak¹, Elie Haddad², Rebecca H Buckley³, Morton J Cowan⁴, Brent Logan⁵, Linda M Griffith⁶, Donald B Kohn⁷, Sung-Yun Pai⁸, Luigi Notarangelo⁹, William Shearer¹⁰, Susan Prockop¹¹, Neena Kapoor¹², Jennifer Heimall¹³, Sonali Chaudhury¹⁴, David Shyr¹⁵, Sharat Chandra¹⁶, Geoff Cuvelier¹⁷, Theodore Moore⁷, Shalini Shenoy¹⁸, Fred Goldman¹⁹, Angela R Smith²⁰, Gauri Sunkersett²¹, Mark Vander Lugt²², Emi Caywood²³, Troy Quigg²⁴, Troy Torgerson²⁵, Shanmuganathan Chandrakasan²⁶, John Craddock²⁷, Blachy J Dávila Saldaña²⁸, Alfred Gillio²⁹, Evan Shereck³⁰, Victor Aquino³¹, Kenneth DeSantes³², Alan Knutsen³³, Monica Thakar³⁴, Lolie Yu³⁵, Jennifer M Puck⁴.

Abstract

Entities: Disease Gene Species

Mesh：

Year: 2018 PMID： 30193840 PMCID： PMC6322970 DOI： 10.1016/j.jaci.2018.08.027

Source DB: PubMed Journal: J Allergy Clin Immunol ISSN： 0091-6749 Impact factor: 10.793

× No keyword cloud information.

9 in total

Review 1. History and current status of newborn screening for severe combined immunodeficiency.

Authors: Antonia Kwan; Jennifer M Puck
Journal: Semin Perinatol Date: 2015-04-30 Impact factor: 3.300

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

Authors: 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
Journal: Blood Date: 2018-08-28 Impact factor: 22.113

3. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Authors: Antonia Kwan; Roshini S Abraham; Robert Currier; Amy Brower; Karen Andruszewski; Jordan K Abbott; Mei Baker; Mark Ballow; Louis E Bartoshesky; Francisco A Bonilla; Charles Brokopp; Edward Brooks; Michele Caggana; Jocelyn Celestin; Joseph A Church; Anne Marie Comeau; James A Connelly; Morton J Cowan; Charlotte Cunningham-Rundles; Trivikram Dasu; Nina Dave; Maria T De La Morena; Ulrich Duffner; Chin-To Fong; Lisa Forbes; Debra Freedenberg; Erwin W Gelfand; Jaime E Hale; I Celine Hanson; Beverly N Hay; Diana Hu; Anthony Infante; Daisy Johnson; Neena Kapoor; Denise M Kay; Donald B Kohn; Rachel Lee; Heather Lehman; Zhili Lin; Fred Lorey; Aly Abdel-Mageed; Adrienne Manning; Sean McGhee; Theodore B Moore; Stanley J Naides; Luigi D Notarangelo; Jordan S Orange; Sung-Yun Pai; Matthew Porteus; Ray Rodriguez; Neil Romberg; John Routes; Mary Ruehle; Arye Rubenstein; Carlos A Saavedra-Matiz; Ginger Scott; Patricia M Scott; Elizabeth Secord; Christine Seroogy; William T Shearer; Subhadra Siegel; Stacy K Silvers; E Richard Stiehm; Robert W Sugerman; John L Sullivan; Susan Tanksley; Millard L Tierce; James Verbsky; Beth Vogel; Rosalyn Walker; Kelly Walkovich; Jolan E Walter; Richard L Wasserman; Michael S Watson; Geoffrey A Weinberg; Leonard B Weiner; Heather Wood; Anne B Yates; Jennifer M Puck; Vincent R Bonagura
Journal: JAMA Date: 2014-08-20 Impact factor: 56.272

4. Successful newborn screening for SCID in the Navajo Nation.

Authors: Antonia Kwan; Diana Hu; Miran Song; Heidi Gomes; Denise R Brown; Trudy Bourque; Diana Gonzalez-Espinosa; Zhili Lin; Morton J Cowan; Jennifer M Puck
Journal: Clin Immunol Date: 2015-03-08 Impact factor: 3.969

5. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

Authors: William T Shearer; Elizabeth Dunn; Luigi D Notarangelo; Christopher C Dvorak; Jennifer M Puck; Brent R Logan; Linda M Griffith; Donald B Kohn; Richard J O'Reilly; Thomas A Fleisher; Sung-Yun Pai; Caridad A Martinez; Rebecca H Buckley; Morton J Cowan
Journal: J Allergy Clin Immunol Date: 2013-11-28 Impact factor: 10.793

6. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

Authors: Catharina Schuetz; Benedicte Neven; Christopher C Dvorak; Sandrine Leroy; Markus J Ege; Ulrich Pannicke; Klaus Schwarz; Ansgar S Schulz; Manfred Hoenig; Monika Sparber-Sauer; Susanne A Gatz; Christian Denzer; Stephane Blanche; Despina Moshous; Capucine Picard; Biljana N Horn; Jean-Pierre de Villartay; Marina Cavazzana; Klaus-Michael Debatin; Wilhelm Friedrich; Alain Fischer; Morton J Cowan
Journal: Blood Date: 2013-10-21 Impact factor: 22.113

7. Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

Authors: Divya Punwani; Yong Zhang; Jason Yu; Morton J Cowan; Sadhna Rana; Antonia Kwan; Aashish N Adhikari; Carlos O Lizama; Bryce A Mendelsohn; Shawn P Fahl; Ajithavalli Chellappan; Rajgopal Srinivasan; Steven E Brenner; David L Wiest; Jennifer M Puck
Journal: N Engl J Med Date: 2016-12-01 Impact factor: 91.245

8. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.

Authors: Jennifer Heimall; Brent R Logan; Morton J Cowan; Luigi D Notarangelo; Linda M Griffith; Jennifer M Puck; Donald B Kohn; Michael A Pulsipher; Suhag Parikh; Caridad Martinez; Neena Kapoor; Richard O'Reilly; Michael Boyer; Sung-Yun Pai; Frederick Goldman; Lauri Burroughs; Sharat Chandra; Morris Kletzel; Monica Thakar; James Connelly; Geoff Cuvelier; Blachy J Davila Saldana; Evan Shereck; Alan Knutsen; Kathleen E Sullivan; Kenneth DeSantes; Alfred Gillio; Elie Haddad; Aleksandra Petrovic; Troy Quigg; Angela R Smith; Elizabeth Stenger; Ziyan Yin; William T Shearer; Thomas Fleisher; Rebecca H Buckley; Christopher C Dvorak
Journal: Blood Date: 2017-10-11 Impact factor: 22.113

Review 9. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).

Authors: Annely M Richardson; Ann M Moyer; Linda Hasadsri; Roshini S Abraham
Journal: Curr Allergy Asthma Rep Date: 2018-02-22 Impact factor: 4.806

9 in total

20 in total

Review 1. RAG gene defects at the verge of immunodeficiency and immune dysregulation.

Authors: Anna Villa; Luigi D Notarangelo
Journal: Immunol Rev Date: 2019-01 Impact factor: 12.988

2. Progressive B Cell Loss in Revertant X-SCID.

Authors: Connie H Lin; Hye Sun Kuehn; Timothy J Thauland; Christine M Lee; Suk See De Ravin; Harry L Malech; Timothy J Keyes; Astraea Jager; Kara L Davis; Maria I Garcia-Lloret; Sergio D Rosenzweig; Manish J Butte
Journal: J Clin Immunol Date: 2020-07-17 Impact factor: 8.317

3. Treatment of primary immunodeficiency with allogeneic transplant and gene therapy.

Authors: Sung-Yun Pai
Journal: Hematology Am Soc Hematol Educ Program Date: 2019-12-06

Review 4. Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.

Authors: Ottavia M Delmonte; Anna Villa; Luigi D Notarangelo
Journal: Blood Date: 2020-02-27 Impact factor: 22.113

5. Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.

Authors: Saul Oswaldo Lugo-Reyes; Nina Pastor; Edith González-Serrano; Marco Antonio Yamazaki-Nakashimada; Selma Scheffler-Mendoza; Laura Berron-Ruiz; Guillermo Wakida; Maria Enriqueta Nuñez-Nuñez; Ana Paola Macias-Robles; Aide Tamara Staines-Boone; Edna Venegas-Montoya; Carmen Alaez-Verson; Carolina Molina-Garay; Luis Leonardo Flores-Lagunes; Karol Carrillo-Sanchez; Julie Niemela; Sergio D Rosenzweig; Paul Gaytan; Jorge A Yañez; Ivan Martinez-Duncker; Luigi D Notarangelo; Sara Espinosa-Padilla; Mario Ernesto Cruz-Munoz
Journal: J Clin Immunol Date: 2021-05-05 Impact factor: 8.317

6. Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System.

Authors: Cameron L Gardner; Mara Pavel-Dinu; Kerry Dobbs; Marita Bosticardo; Paul K Reardon; Justin Lack; Suk See DeRavin; Kent Le; Ezekiel Bello; Francesca Pala; Ottavia M Delmonte; Harry Malech; Amelie Montel-Hagan; Gay Crooks; Oreste Acuto; Matthew H Porteus; Luigi D Notarangelo
Journal: J Clin Immunol Date: 2021-03-01 Impact factor: 8.542

10. Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID).

Authors: Heather Smith; Christopher Scalchunes; Morton J Cowan; Jennifer Puck; Jennifer Heimall
Journal: Clin Immunol Date: 2021-06-16 Impact factor: 10.190