Literature DB >> 27210535

Autoimmunity and Primary Immunodeficiency Disorders.

Eric Allenspach1,2, Troy R Torgerson3,4.   

Abstract

Advances in DNA sequencing technologies have led to a quickening in the pace at which new genetic immunodeficiency disorders have been identified. Among the newly identified defects are a number of disorders that present primarily with autoimmunity as opposed to recurrent infections. These "immune dysregulation" disorders have begun to cluster together to form an increased understanding of some of the basic molecular mechanisms that underlie the establishment and maintenance of immune tolerance and the development of autoimmunity. This review will present three major themes that have emerged in our understanding of the mechanisms that underlie autoimmunity and immune dysregulation in humans.

Entities:  

Keywords:  CTLA4—cytotoxic T lymphocyte-associated protein 4; CVID—common variable immune deficiency; IL-10—interleukin-10; IPEX—immune dysregulation, polyendocrinopathy, enteropathy, X-linked; NF-κB—nuclear factor-kappa binding; PIDD—primary immunodeficiency disorders; STAT—signal transducer and activator of transcription; Treg—regulatory T cell

Mesh:

Year:  2016        PMID: 27210535     DOI: 10.1007/s10875-016-0294-1

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN: 0271-9142            Impact factor:   8.317


  73 in total

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Journal:  J Clin Invest       Date:  2014-11-03       Impact factor: 14.808

2.  Overview. Type I interferons as primers, activators and inhibitors of innate and adaptive immune responses.

Authors:  Paul J Hertzog
Journal:  Immunol Cell Biol       Date:  2012-05       Impact factor: 5.126

3.  Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years.

Authors:  Mary Lucas; Martin Lee; Jenny Lortan; Eduardo Lopez-Granados; Siraj Misbah; Helen Chapel
Journal:  J Allergy Clin Immunol       Date:  2010-05-14       Impact factor: 10.793

Review 4.  NF-κB in immunobiology.

Authors:  Matthew S Hayden; Sankar Ghosh
Journal:  Cell Res       Date:  2011-01-18       Impact factor: 25.617

5.  B-cell receptor signal strength influences terminal differentiation.

Authors:  Fabien Lechouane; Amélie Bonaud; Laurent Delpy; Stefano Casola; Zeliha Oruc; Guillaume Chemin; Michel Cogné; Christophe Sirac
Journal:  Eur J Immunol       Date:  2013-01-24       Impact factor: 5.532

6.  Altered B cell homeostasis is associated with type I diabetes and carriers of the PTPN22 allelic variant.

Authors:  Tania Habib; Andrew Funk; Mary Rieck; Archana Brahmandam; Xuezhi Dai; Anil K Panigrahi; Eline T Luning Prak; Almut Meyer-Bahlburg; Srinath Sanda; Carla Greenbaum; David J Rawlings; Jane H Buckner
Journal:  J Immunol       Date:  2011-11-21       Impact factor: 5.422

Review 7.  How I treat autoimmune hemolytic anemias in adults.

Authors:  Klaus Lechner; Ulrich Jäger
Journal:  Blood       Date:  2010-06-14       Impact factor: 22.113

8.  A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

Authors:  Lena F Schimke; Nikolaus Rieber; Stacey Rylaarsdam; Otávio Cabral-Marques; Nicholas Hubbard; Anne Puel; Laura Kallmann; Stephanie Anover Sombke; Gundula Notheis; Hans-Peter Schwarz; Birgit Kammer; Tomas Hökfelt; Reinald Repp; Capucine Picard; Jean-Laurent Casanova; Bernd H Belohradsky; Michael H Albert; Hans D Ochs; Ellen D Renner; Troy R Torgerson
Journal:  J Clin Immunol       Date:  2013-05-25       Impact factor: 8.317

9.  Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations.

Authors:  Tatsuya Fuchizawa; Yuichi Adachi; Yasunori Ito; Hiroyuki Higashiyama; Hirokazu Kanegane; Takeshi Futatani; Ichiro Kobayashi; Yoshiro Kamachi; Tatsuo Sakamoto; Ikuya Tsuge; Hiroshi Tanaka; Alison H Banham; Hans D Ochs; Toshio Miyawaki
Journal:  Clin Immunol       Date:  2007-10-03       Impact factor: 3.969

10.  Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency.

Authors:  Johann Greil; Tobias Rausch; Thomas Giese; Obul R Bandapalli; Volker Daniel; Isabelle Bekeredjian-Ding; Adrian M Stütz; Christoph Drees; Susanne Roth; Jürgen Ruland; Jan O Korbel; Andreas E Kulozik
Journal:  J Allergy Clin Immunol       Date:  2013-04-03       Impact factor: 10.793

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  22 in total

1.  Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.

Authors:  Jared H Rowe; Ottavia M Delmonte; Sevgi Keles; Brian D Stadinski; Adam K Dobbs; Lauren A Henderson; Yasuhiro Yamazaki; Luis M Allende; Francisco A Bonilla; Luis I Gonzalez-Granado; Seyma Celikbilek Celik; Sukru N Guner; Hasan Kapakli; Christina Yee; Sung-Yun Pai; Eric S Huseby; Ismail Reisli; Jose R Regueiro; Luigi D Notarangelo
Journal:  Blood       Date:  2018-04-13       Impact factor: 22.113

2.  Ins and Outs of Antibodies.

Authors:  Sudhir Gupta
Journal:  J Clin Immunol       Date:  2016-05-12       Impact factor: 8.317

Review 3.  Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies.

Authors:  Jolan E Walter; Jocelyn R Farmer; Zsofia Foldvari; Troy R Torgerson; Megan A Cooper
Journal:  J Allergy Clin Immunol Pract       Date:  2016 Nov - Dec

Review 4.  Lung Disease in Primary Antibody Deficiencies.

Authors:  Edith Schussler; Mary B Beasley; Paul J Maglione
Journal:  J Allergy Clin Immunol Pract       Date:  2016 Nov - Dec

Review 5.  Application of genome-editing systems to enhance available pig resources for agriculture and biomedicine.

Authors:  Kiho Lee; Kayla Farrell; Kyungjun Uh
Journal:  Reprod Fertil Dev       Date:  2019-01       Impact factor: 2.311

Review 6.  Chronic Lung Disease in Primary Antibody Deficiency: Diagnosis and Management.

Authors:  Paul J Maglione
Journal:  Immunol Allergy Clin North Am       Date:  2020-06-09       Impact factor: 3.479

7.  A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis.

Authors:  Samin Sharafian; Vahid Ziaee; Mohammad Shahrooei; Mahsa Ahadi; Nima Parvaneh
Journal:  J Clin Immunol       Date:  2019-01-05       Impact factor: 8.542

Review 8.  Advances in Evaluation of Chronic Diarrhea in Infants.

Authors:  Jay R Thiagarajah; Daniel S Kamin; Sari Acra; Jeffrey D Goldsmith; Joseph T Roland; Wayne I Lencer; Aleixo M Muise; James R Goldenring; Yaron Avitzur; Martín G Martín
Journal:  Gastroenterology       Date:  2018-04-12       Impact factor: 33.883

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

Authors:  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
Journal:  Blood       Date:  2021-05-06       Impact factor: 25.476

10.  A delayed diagnosis of atypical immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A case report.

Authors:  Ying Zhang; Hanmin Liu; Tao Ai; Wanmin Xia; Tingting Chen; Lei Zhang; Xiulan Luo; Yaping Duan
Journal:  Medicine (Baltimore)       Date:  2021-03-26       Impact factor: 1.817

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