Literature DB >> 28864286

Abnormalities of T-cell receptor repertoire in CD4+ regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity.

Jared H Rowe1, Brian D Stadinski2, Lauren A Henderson1, Lisa Ott de Bruin1, Ottavia Delmonte1, Yu Nee Lee3, M Teresa de la Morena4, Rakesh K Goyal5, Anthony Hayward6, Chiung-Hui Huang7, Maria Kanariou8, Alejandra King9, Taco W Kuijpers10, Jian Yi Soh7, Benedicte Neven11, Jolan E Walter12, Eric S Huseby2, Luigi D Notarangelo13.   

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Year:  2017        PMID： 28864286      PMCID： PMC5911433          DOI： 10.1016/j.jaci.2017.08.001

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


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  10 in total

Review 1.  Biological diversity.

Authors:  Anne E Magurran
Journal:  Curr Biol       Date:  2005-02-22       Impact factor: 10.834

2.  Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

Authors:  Suk See De Ravin; Edward W Cowen; Kol A Zarember; Narda L Whiting-Theobald; Douglas B Kuhns; Netanya G Sandler; Daniel C Douek; Stefania Pittaluga; Pietro L Poliani; Yu Nee Lee; Luigi D Notarangelo; Lei Wang; Frederick W Alt; Elizabeth M Kang; Joshua D Milner; Julie E Niemela; Mary Fontana-Penn; Sara H Sinal; Harry L Malech
Journal:  Blood       Date:  2010-05-20       Impact factor: 22.113

3.  Deep sequencing of the TCR-β repertoire of human forkhead box protein 3 (FoxP3)+ and FoxP3- T cells suggests that they are completely distinct and non-overlapping.

Authors:  A Golding; S Darko; W H Wylie; D C Douek; E M Shevach
Journal:  Clin Exp Immunol       Date:  2017-01-09       Impact factor: 4.330

4.  The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Authors:  C L Bennett; J Christie; F Ramsdell; M E Brunkow; P J Ferguson; L Whitesell; T E Kelly; F T Saulsbury; P F Chance; H D Ochs
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

5.  Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.

Authors:  Pietro Luigi Poliani; Fabio Facchetti; Maria Ravanini; Andrew Richard Gennery; Anna Villa; Chaim M Roifman; Luigi D Notarangelo
Journal:  Blood       Date:  2009-05-04       Impact factor: 22.113

6.  Defect of regulatory T cells in patients with Omenn syndrome.

Authors:  Barbara Cassani; Pietro Luigi Poliani; Daniele Moratto; Cristina Sobacchi; Veronica Marrella; Laura Imperatori; Donatella Vairo; Alessandro Plebani; Silvia Giliani; Paolo Vezzoni; Fabio Facchetti; Fulvio Porta; Luigi D Notarangelo; Anna Villa; Raffaele Badolato
Journal:  J Allergy Clin Immunol       Date:  2010-01       Impact factor: 10.793

7.  V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Authors:  A Villa; C Sobacchi; L D Notarangelo; F Bozzi; M Abinun; T G Abrahamsen; P D Arkwright; M Baniyash; E G Brooks; M E Conley; P Cortes; M Duse; A Fasth; A M Filipovich; A J Infante; A Jones; E Mazzolari; S M Muller; S Pasic; G Rechavi; M G Sacco; S Santagata; M L Schroeder; R Seger; D Strina; A Ugazio; J Väliaho; M Vihinen; L B Vogler; H Ochs; P Vezzoni; W Friedrich; K Schwarz
Journal:  Blood       Date:  2001-01-01       Impact factor: 22.113

8.  Activation-induced FOXP3 in human T effector cells does not suppress proliferation or cytokine production.

Authors:  Sarah E Allan; Sarah Q Crome; Natasha K Crellin; Laura Passerini; Theodore S Steiner; Rosa Bacchetta; Maria G Roncarolo; Megan K Levings
Journal:  Int Immunol       Date:  2007-02-27       Impact factor: 4.823

9.  A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Authors:  Yu Nee Lee; Francesco Frugoni; Kerry Dobbs; Jolan E Walter; Silvia Giliani; Andrew R Gennery; Waleed Al-Herz; Elie Haddad; Francoise LeDeist; Jack H Bleesing; Lauren A Henderson; Sung-Yun Pai; Robert P Nelson; Dalia H El-Ghoneimy; Reem A El-Feky; Shereen M Reda; Elham Hossny; Pere Soler-Palacin; Ramsay L Fuleihan; Niraj C Patel; Michel J Massaad; Raif S Geha; Jennifer M Puck; Paolo Palma; Caterina Cancrini; Karin Chen; Mauno Vihinen; Frederick W Alt; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-11-28       Impact factor: 10.793

10.  Hydrophobic CDR3 residues promote the development of self-reactive T cells.

Authors:  Brian D Stadinski; Karthik Shekhar; Iria Gómez-Touriño; Jonathan Jung; Katsuhiro Sasaki; Andrew K Sewell; Mark Peakman; Arup K Chakraborty; Eric S Huseby
Journal:  Nat Immunol       Date:  2016-06-27       Impact factor: 25.606
  10 in total
  11 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

Review 2.  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

Review 3.  Advances and highlights in primary immunodeficiencies in 2017.

Authors:  Javier Chinen; Morton J Cowan
Journal:  J Allergy Clin Immunol       Date:  2018-08-29       Impact factor: 10.793

Review 4.  Inborn Errors of the Immune System Associated With Atopy.

Authors:  Ryan W Nelson; Raif S Geha; Douglas R McDonald
Journal:  Front Immunol       Date:  2022-04-27       Impact factor: 8.786

Review 5.  RAG Deficiency: Two Genes, Many Diseases.

Authors:  Ottavia M Delmonte; Catharina Schuetz; Luigi D Notarangelo
Journal:  J Clin Immunol       Date:  2018-07-25       Impact factor: 8.317

Review 6.  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

7.  Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development.

Authors:  L M Ott de Bruin; M Bosticardo; A Barbieri; S G Lin; J H Rowe; P L Poliani; K Ching; D Eriksson; N Landegren; O Kämpe; J P Manis; L D Notarangelo
Journal:  Blood       Date:  2018-05-09       Impact factor: 22.113

Review 8.  RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.

Authors:  Marita Bosticardo; Francesca Pala; Luigi D Notarangelo
Journal:  Eur J Immunol       Date:  2021-03-22       Impact factor: 6.688

Review 9.  Recent advances in understanding RAG deficiencies.

Authors:  Andrew Gennery
Journal:  F1000Res       Date:  2019-02-04

10.  Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.

Authors:  Dylan Lawless; Christoph B Geier; Jocelyn R Farmer; Hana Lango Allen; Daniel Thwaites; Faranaz Atschekzei; Matthew Brown; David Buchbinder; Siobhan O Burns; Manish J Butte; Krisztian Csomos; Sri V V Deevi; William Egner; Stephan Ehl; Martha M Eibl; Olajumoke Fadugba; Zsofia Foldvari; Deanna M Green; Sarah E Henrickson; Steven M Holland; Tami John; Christian Klemann; Taco W Kuijpers; Fernando Moreira; Alexander Piller; Paula Rayner-Matthews; Neil D Romberg; Ravishankar Sargur; Reinhold E Schmidt; Claudia Schröder; Catharina Schuetz; Svetlana O Sharapova; Ken G C Smith; Georgios Sogkas; Carsten Speckmann; Kathleen Stirrups; Adrian J Thrasher; Hermann M Wolf; Luigi D Notarangelo; Rashida Anwar; Joan Boyes; Boglarka Ujhazi; James Thaventhiran; Jolan E Walter; Sinisa Savic
Journal:  J Allergy Clin Immunol       Date:  2018-03-02       Impact factor: 10.793
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