Literature DB >> 25061172

Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia.

Nina Kathrin Serwas1, Deniz Cagdas2, Sol A Ban1, Kirsten Bienemann3, Elisabeth Salzer1, Ilhan Tezcan2, Arndt Borkhardt3, Ozden Sanal2, Kaan Boztug4.   

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Year:  2014        PMID: 25061172      PMCID: PMC4110665          DOI: 10.1182/blood-2014-03-564930

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


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  11 in total

1.  Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.

Authors:  R M Linka; S L Risse; K Bienemann; M Werner; Y Linka; F Krux; C Synaeve; R Deenen; S Ginzel; R Dvorsky; M Gombert; A Halenius; R Hartig; M Helminen; A Fischer; P Stepensky; K Vettenranta; K Köhrer; M R Ahmadian; H-J Laws; B Fleckenstein; H Jumaa; S Latour; B Schraven; A Borkhardt
Journal:  Leukemia       Date:  2012-01-06       Impact factor: 11.528

Review 2.  Tec family kinases in T lymphocyte development and function.

Authors:  Leslie J Berg; Lisa D Finkelstein; Julie A Lucas; Pamela L Schwartzberg
Journal:  Annu Rev Immunol       Date:  2005       Impact factor: 28.527

3.  Altered T cell receptor signaling and disrupted T cell development in mice lacking Itk.

Authors:  X C Liao; D R Littman
Journal:  Immunity       Date:  1995-12       Impact factor: 31.745

4.  IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.

Authors:  Polina Stepensky; Michael Weintraub; Asaf Yanir; Shoshana Revel-Vilk; Frank Krux; Kirsten Huck; Rene M Linka; Avraham Shaag; Orly Elpeleg; Arndt Borkhardt; Igor B Resnick
Journal:  Haematologica       Date:  2010-11-25       Impact factor: 9.941

5.  IL-2-inducible T-cell kinase deficiency with pulmonary manifestations due to disseminated Epstein-Barr virus infection.

Authors:  D Mansouri; S A Mahdaviani; S Khalilzadeh; S A Mohajerani; M Hasanzad; S Sadr; S A Nadji; S Karimi; A Droodinia; N Rezaei; R M Linka; K Bienemann; A Borkhardt; M R Masjedi; A A Velayati
Journal:  Int Arch Allergy Immunol       Date:  2012-04-05       Impact factor: 2.749

6.  Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.

Authors:  Kirsten Huck; Oliver Feyen; Tim Niehues; Franz Rüschendorf; Norbert Hübner; Hans-Jürgen Laws; Tanja Telieps; Stefan Knapp; Hans-Heinrich Wacker; Alfons Meindl; Hassan Jumaa; Arndt Borkhardt
Journal:  J Clin Invest       Date:  2009-05       Impact factor: 14.808

7.  Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.

Authors:  Fabian Hauck; Clotilde Randriamampita; Emmanuel Martin; Stéphane Gerart; Nathalie Lambert; Annick Lim; Jean Soulier; Zosia Maciorowski; Fabien Touzot; Despina Moshous; Pierre Quartier; Sébastien Heritier; Stéphane Blanche; Fréderic Rieux-Laucat; Nicole Brousse; Isabelle Callebaut; André Veillette; Claire Hivroz; Alain Fischer; Sylvain Latour; Capucine Picard
Journal:  J Allergy Clin Immunol       Date:  2012-09-15       Impact factor: 10.793

8.  A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes.

Authors:  C de Préval; B Lisowska-Grospierre; M Loche; C Griscelli; B Mach
Journal:  Nature       Date:  1985 Nov 21-27       Impact factor: 49.962

9.  MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.

Authors:  Capucine Picard; Nizar Mahlaoui; Alain Fischer; Geneviève de Saint Basile; Nadine T Nehme; Jana Pachlopnik Schmid; Franck Debeurme; Isabelle André-Schmutz; Annick Lim; Patrick Nitschke; Frédéric Rieux-Laucat; Patrick Lutz
Journal:  Blood       Date:  2011-12-14       Impact factor: 22.113

10.  Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.

Authors:  Elisabeth Salzer; Aydan Kansu; Heiko Sic; Peter Májek; Aydan Ikincioğullari; Figen E Dogu; Nina Kathrin Prengemann; Elisangela Santos-Valente; Winfried F Pickl; Ivan Bilic; Sol A Ban; Zarife Kuloğlu; Arzu Meltem Demir; Arzu Ensari; Jacques Colinge; Marta Rizzi; Hermann Eibel; Kaan Boztug
Journal:  J Allergy Clin Immunol       Date:  2014-04-17       Impact factor: 10.793

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  15 in total

Review 1.  X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect.

Authors:  Juan Ravell; Benjamin Chaigne-Delalande; Michael Lenardo
Journal:  Curr Opin Pediatr       Date:  2014-12       Impact factor: 2.856

2.  Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.

Authors:  M Elgizouli; D M Lowe; C Speckmann; D Schubert; J Hülsdünker; Z Eskandarian; A Dudek; A Schmitt-Graeff; J Wanders; S F Jørgensen; B Fevang; U Salzer; A Nieters; S Burns; B Grimbacher
Journal:  Clin Exp Immunol       Date:  2015-11-09       Impact factor: 4.330

3.  Genetic Deficiency and Biochemical Inhibition of ITK Affect Human Th17, Treg, and Innate Lymphoid Cells.

Authors:  Ahmet Eken; Murat Cansever; Ido Somekh; Yoko Mizoguchi; Natalia Zietara; Fatma Zehra Okus; Serife Erdem; Halit Canatan; Sefika Akyol; Alper Ozcan; Musa Karakukcu; Sebastian Hollizeck; Meino Rohlfs; Ekrem Unal; Christoph Klein; Turkan Patiroglu
Journal:  J Clin Immunol       Date:  2019-04-25       Impact factor: 8.317

Review 4.  Lipid and Protein Co-Regulation of PI3K Effectors Akt and Itk in Lymphocytes.

Authors:  Xinxin Wang; Leonard Benjamin Hills; Yina Hsing Huang
Journal:  Front Immunol       Date:  2015-03-13       Impact factor: 7.561

Review 5.  Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects.

Authors:  Sujal Ghosh; Kirsten Bienemann; Kaan Boztug; Arndt Borkhardt
Journal:  J Clin Immunol       Date:  2014-10-24       Impact factor: 8.317

Review 6.  Human immunity against EBV-lessons from the clinic.

Authors:  Stuart G Tangye; Umaimainthan Palendira; Emily S J Edwards
Journal:  J Exp Med       Date:  2017-01-20       Impact factor: 14.307

Review 7.  Inherited Immunodeficiencies With High Predisposition to Epstein-Barr Virus-Driven Lymphoproliferative Diseases.

Authors:  Sylvain Latour; Sarah Winter
Journal:  Front Immunol       Date:  2018-06-04       Impact factor: 7.561

Review 8.  A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay.

Authors:  Monica S Thakar; Mary K Hintermeyer; Miranda G Gries; John M Routes; James W Verbsky
Journal:  Front Immunol       Date:  2017-11-08       Impact factor: 7.561

Review 9.  Interleukin-2-Inducible T-Cell Kinase Deficiency-New Patients, New Insight?

Authors:  Sujal Ghosh; Ingo Drexler; Sanil Bhatia; Heiko Adler; Andrew R Gennery; Arndt Borkhardt
Journal:  Front Immunol       Date:  2018-05-08       Impact factor: 7.561

Review 10.  Idiopathic CD4 Lymphocytopenia: Current Insights.

Authors:  Saravanakumari Vijayakumar; Stalin Viswanathan; Rajeswari Aghoram
Journal:  Immunotargets Ther       Date:  2020-05-14
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