Literature DB >> 25769540

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.

Baran Erman1, Ivan Bilic2, Tatjana Hirschmugl2, Elisabeth Salzer2, Deniz Çagdas3, Saliha Esenboga3, Zuhal Akcoren4, Ozden Sanal3, Ilhan Tezcan3, Kaan Boztug5.   

Abstract

Entities:  

Keywords:  CD4 lymphopenia; IL21R; combined immunodeficiencies; loss-of-function mutation; sclerosing cholangitis

Mesh：

Substances：

Year:  2015        PMID： 25769540      PMCID： PMC4450632          DOI： 10.3324/haematol.2014.120980

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  19 in total

1.  Control of matrix metalloproteinase production in human intestinal fibroblasts by interleukin 21.

Authors:  G Monteleone; R Caruso; D Fina; I Peluso; V Gioia; C Stolfi; M C Fantini; F Caprioli; R Tersigni; L Alessandroni; T T MacDonald; F Pallone
Journal:  Gut       Date:  2006-05-08       Impact factor: 23.059

2.  IL-21 induces differentiation of human naive and memory B cells into antibody-secreting plasma cells.

Authors:  Rachel Ettinger; Gary P Sims; Anna-Marie Fairhurst; Rachel Robbins; Yong Sing da Silva; Rosanne Spolski; Warren J Leonard; Peter E Lipsky
Journal:  J Immunol       Date:  2005-12-15       Impact factor: 5.422

Review 3.  Interleukin-21 and the IL-21 receptor: novel effectors of NK and T cell responses.

Authors:  Julia Parrish-Novak; Donald C Foster; Richard D Holly; Christopher H Clegg
Journal:  J Leukoc Biol       Date:  2002-11       Impact factor: 4.962

4.  IL-21 limits NK cell responses and promotes antigen-specific T cell activation: a mediator of the transition from innate to adaptive immunity.

Authors:  Marion T Kasaian; Matthew J Whitters; Laura L Carter; Leslie D Lowe; Jason M Jussif; Bijia Deng; Kaley A Johnson; JoAnn S Witek; Mayra Senices; Richard F Konz; Andrea L Wurster; Debra D Donaldson; Mary Collins; Deborah A Young; Michael J Grusby
Journal:  Immunity       Date:  2002-04       Impact factor: 31.745

5.  Expression of interleukin-21 receptor in epidermis from patients with systemic sclerosis.

Authors:  Jörg H W Distler; Astrid Jüngel; Otylia Kowal-Bielecka; Beat A Michel; Renate E Gay; Haiko Sprott; Marco Matucci-Cerinic; Meike Chilla; Kristian Reich; Joachim R Kalden; Ulf Müller-Ladner; Hanns M Lorenz; Steffen Gay; Oliver Distler
Journal:  Arthritis Rheum       Date:  2005-03

Review 6.  Interleukin-21: basic biology and implications for cancer and autoimmunity.

Authors:  Rosanne Spolski; Warren J Leonard
Journal:  Annu Rev Immunol       Date:  2008       Impact factor: 28.527

7.  A critical role for IL-21 in regulating immunoglobulin production.

Authors:  Katsutoshi Ozaki; Rosanne Spolski; Carl G Feng; Chen-Feng Qi; Jun Cheng; Alan Sher; Herbert C Morse; Chengyu Liu; Pamela L Schwartzberg; Warren J Leonard
Journal:  Science       Date:  2002-11-22       Impact factor: 47.728

8.  Interleukin 21 prevents antigen-induced IgE production by inhibiting germ line C(epsilon) transcription of IL-4-stimulated B cells.

Authors:  Akira Suto; Hiroshi Nakajima; Koichi Hirose; Kotaro Suzuki; Shin-ichiro Kagami; Yohei Seto; Aihiro Hoshimoto; Yasushi Saito; Donald C Foster; Itsuo Iwamoto
Journal:  Blood       Date:  2002-08-01       Impact factor: 22.113

9.  Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study.

Authors:  William T Shearer; Howard M Rosenblatt; Rebecca S Gelman; Rebecca Oyomopito; Susan Plaeger; E Richard Stiehm; Diane W Wara; Steven D Douglas; Katherine Luzuriaga; Elizabeth J McFarland; Ram Yogev; Mobeen H Rathore; Wende Levy; Bobbie L Graham; Stephen A Spector
Journal:  J Allergy Clin Immunol       Date:  2003-11       Impact factor: 10.793

10.  Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002.

Authors:  Andrew R Gennery; Khulood Khawaja; Paul Veys; Robbert G M Bredius; Luigi D Notarangelo; Evelina Mazzolari; Alain Fischer; Paul Landais; Marina Cavazzana-Calvo; Wilhelm Friedrich; Anders Fasth; Nico M Wulffraat; Susanne Matthes-Martin; Danielle Bensoussan; Pierre Bordigoni; Andrzej Lange; Antonio Pagliuca; Marino Andolina; Andrew J Cant; E Graham Davies
Journal:  Blood       Date:  2003-10-02       Impact factor: 22.113
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  17 in total

Review 1.  Human hyper-IgE syndrome: singular or plural?

Authors:  Qian Zhang; Bertrand Boisson; Vivien Béziat; Anne Puel; Jean-Laurent Casanova
Journal:  Mamm Genome       Date:  2018-08-09       Impact factor: 2.957

2.  Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.

Authors:  Cecilia Domínguez Conde; Özlem Yüce Petronczki; Safa Baris; Katharina L Willmann; Enrico Girardi; Elisabeth Salzer; Stefan Weitzer; Rico Chandra Ardy; Ana Krolo; Hanna Ijspeert; Ayca Kiykim; Elif Karakoc-Aydiner; Elisabeth Förster-Waldl; Leo Kager; Winfried F Pickl; Giulio Superti-Furga; Javier Martínez; Joanna I Loizou; Ahmet Ozen; Mirjam van der Burg; Kaan Boztug
Journal:  J Clin Invest       Date:  2019-10-01       Impact factor: 14.808

3.  Modulation of the Interleukin-21 Pathway with Interleukin-4 Distinguishes Common Variable Immunodeficiency Patients with More Non-infectious Clinical Complications.

Authors:  Marylin Desjardins; Marianne Béland; Marieme Dembele; Duncan Lejtenyi; Jean-Phillipe Drolet; Martine Lemire; Christos Tsoukas; Moshe Ben-Shoshan; Francisco J D Noya; Reza Alizadehfar; Christine T McCusker; Bruce D Mazer
Journal:  J Clin Immunol       Date:  2017-11-04       Impact factor: 8.317

4.  Difficult to Treat Recurrent Pyogenic Cholangitis With Portal Pylephlebitis in the Setting of Idiopathic CD4+ Lymphocytopaenia.

Authors:  Madhumita Premkumar; Devaraja Rangegowda; Anand Kulkarni; Tanmay Vyas; Shivani Dudha; Rakhi Maiwall
Journal:  J Clin Exp Hepatol       Date:  2019-03-27

Review 5.  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

6.  Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.

Authors:  Deniz Cagdas; Daniel Mayr; Safa Baris; Lisa Worley; David B Langley; Ayse Metin; Elif Soyak Aytekin; Raziye Atan; Nurhan Kasap; Sevgi Köstel Bal; Jasmin Dmytrus; Raul Jimenez Heredia; Gulsun Karasu; Selda Hancerli Torun; Muge Toyran; Elif Karakoc-Aydiner; Daniel Christ; Baris Kuskonmaz; Duygu Uçkan-Çetinkaya; Aysegul Uner; Felicitas Oberndorfer; Ana-Iris Schiefer; Gulbu Uzel; Elissa K Deenick; Baerbel Keller; Klaus Warnatz; Bénédicte Neven; Anne Durandy; Ozden Sanal; Cindy S Ma; Ahmet Özen; Polina Stepensky; Ilhan Tezcan; Kaan Boztug; Stuart G Tangye
Journal:  J Clin Immunol       Date:  2021-04-30       Impact factor: 8.317

7.  Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

Authors:  Cindy S Ma; Natalie Wong; Geetha Rao; Akira Nguyen; Danielle T Avery; Kathryn Payne; James Torpy; Patrick O'Young; Elissa Deenick; Jacinta Bustamante; Anne Puel; Satoshi Okada; Masao Kobayashi; Ruben Martinez-Barricarte; Michael Elliott; Sara Sebnem Kilic; Jamila El Baghdadi; Yoshiyuki Minegishi; Aziz Bousfiha; Nic Robertson; Sophie Hambleton; Peter D Arkwright; Martyn French; Annaliesse K Blincoe; Peter Hsu; Dianne E Campbell; Michael O Stormon; Melanie Wong; Stephen Adelstein; David A Fulcher; Matthew C Cook; Polina Stepensky; Kaan Boztug; Rita Beier; Aydan Ikincioğullari; John B Ziegler; Paul Gray; Capucine Picard; Stéphanie Boisson-Dupuis; Tri Giang Phan; Bodo Grimbacher; Klaus Warnatz; Steven M Holland; Gulbu Uzel; Jean-Laurent Casanova; Stuart G Tangye
Journal:  J Exp Med       Date:  2016-07-11       Impact factor: 14.307

Review 8.  IL-21 Signaling in Immunity.

Authors:  Warren J Leonard; Chi-Keung Wan
Journal:  F1000Res       Date:  2016-02-26

9.  Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.

Authors:  Brahim Belaid; Lydia Lamara Mahammed; Aida Mohand Oussaid; Melanie Migaud; Yasmine Khadri; Jean Laurent Casanova; Anne Puel; Nafissa Ben Halla; Reda Djidjik
Journal:  Front Immunol       Date:  2021-06-24       Impact factor: 7.561

10.  NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.

Authors:  Heidrun Boztug; Tatjana Hirschmugl; Wolfgang Holter; Karoly Lakatos; Leo Kager; Doris Trapin; Winfried Pickl; Elisabeth Förster-Waldl; Kaan Boztug
Journal:  J Clin Immunol       Date:  2016-06-23       Impact factor: 8.317
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