Literature DB >> 26233237

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.

Ayca Kiykim1, Ismail Ogulur2, Safa Baris2, Elisabeth Salzer3, Elif Karakoc-Aydiner2, Ahmet Oguzhan Ozen2, Wojciech Garncarz3, Tatjana Hirschmugl3, Ana Krolo3, Ayse Deniz Yucelten4, Kaan Boztug3,5, Isil B Barlan2.   

Abstract

Protein kinase C delta (PRKCD) has essential functions in controlling B-cell proliferation and apoptosis, development of B-cell tolerance and NK-cell cytolitic activity. Human PRKCD deficiency was recently identified to be causative for an autoimmune lymphoproliferative syndrome like disorder with significant B-cell proliferation particularly of immature B cells. Here we report a child with a novel mutation in PRKCD gene who presented with CMV infection and an early onset SLE-like disorder which was successfully treated with hydroxychloroquine.

Entities:  

Keywords:  Protein kinase delta c; autoimmunity; lupus-like disorders

Mesh：

Substances：

Year:  2015        PMID： 26233237     DOI： 10.1007/s10875-015-0178-9

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


  12 in total

1.  Hydroxychloroquine inhibits calcium signals in T cells: a new mechanism to explain its immunomodulatory properties.

Authors:  F D Goldman; A L Gilman; C Hollenback; R M Kato; B A Premack; D J Rawlings
Journal:  Blood       Date:  2000-06-01       Impact factor: 22.113

2.  Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.

Authors:  Hye Sun Kuehn; Julie E Niemela; Andreia Rangel-Santos; Mingchang Zhang; Stefania Pittaluga; Jennifer L Stoddard; Ashleigh A Hussey; Moses O Evbuomwan; Debra A Long Priel; Douglas B Kuhns; C Lucy Park; Thomas A Fleisher; Gulbu Uzel; João B Oliveira
Journal:  Blood       Date:  2013-02-21       Impact factor: 22.113

3.  Hydroxychloroquine preferentially induces apoptosis of CD45RO+ effector T cells by inhibiting autophagy: a possible mechanism for therapeutic modulation of T cells.

Authors:  Jorg van Loosdregt; Roberto Spreafico; Maura Rossetti; Berent J Prakken; Martin Lotz; Salvatore Albani
Journal:  J Allergy Clin Immunol       Date:  2013-03-28       Impact factor: 10.793

4.  Involvement of protein kinase C delta (PKCdelta) in phorbol ester-induced apoptosis in LNCaP prostate cancer cells. Lack of proteolytic cleavage of PKCdelta.

Authors:  T Fujii; M L García-Bermejo; J L Bernabó; J Caamaño; M Ohba; T Kuroki; L Li; S H Yuspa; M G Kazanietz
Journal:  J Biol Chem       Date:  2000-03-17       Impact factor: 5.157

5.  Increased proliferation of B cells and auto-immunity in mice lacking protein kinase Cdelta.

Authors:  Akimoto Miyamoto; Keiko Nakayama; Hiroyuki Imaki; Sachiko Hirose; Yi Jiang; Masaaki Abe; Tadasuke Tsukiyama; Hiroyasu Nagahama; Shigeo Ohno; Shigetsugu Hatakeyama; Keiichi I Nakayama
Journal:  Nature       Date:  2002-04-25       Impact factor: 49.962

6.  B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.

Authors:  Elisabeth Salzer; Elisangela Santos-Valente; Stefanie Klaver; Sol A Ban; Wolfgang Emminger; Nina Kathrin Prengemann; Wojciech Garncarz; Leonhard Müllauer; Renate Kain; Heidrun Boztug; Andreas Heitger; Klaus Arbeiter; Franz Eitelberger; Markus G Seidel; Wolfgang Holter; Arnold Pollak; Winfried F Pickl; Elisabeth Förster-Waldl; Kaan Boztug
Journal:  Blood       Date:  2013-01-14       Impact factor: 22.113

7.  Selective regulation of cytokine secretion by hydroxychloroquine: inhibition of interleukin 1 alpha (IL-1-alpha) and IL-6 in human monocytes and T cells.

Authors:  K Sperber; H Quraishi; T H Kalb; A Panja; V Stecher; L Mayer
Journal:  J Rheumatol       Date:  1993-05       Impact factor: 4.666

Review 8.  Protein kinase C family functions in B-cell activation.

Authors:  Beichu Guo; Thomas T Su; David J Rawlings
Journal:  Curr Opin Immunol       Date:  2004-06       Impact factor: 7.486

Review 9.  Involvement of protein kinase C-delta in DNA damage-induced apoptosis.

Authors:  Alakananda Basu
Journal:  J Cell Mol Med       Date:  2003 Oct-Dec       Impact factor: 5.310

10.  Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

Authors:  Alexandre Belot; Paul R Kasher; Eleanor W Trotter; Anne-Perrine Foray; Anne-Laure Debaud; Gillian I Rice; Marcin Szynkiewicz; Marie-Therese Zabot; Isabelle Rouvet; Sanjeev S Bhaskar; Sarah B Daly; Jonathan E Dickerson; Josephine Mayer; James O'Sullivan; Laurent Juillard; Jill E Urquhart; Shameem Fawdar; Anna A Marusiak; Natalie Stephenson; Bohdan Waszkowycz; Michael W Beresford; Leslie G Biesecker; Graeme C M Black; Céline René; Jean-François Eliaou; Nicole Fabien; Bruno Ranchin; Pierre Cochat; Patrick M Gaffney; Flore Rozenberg; Pierre Lebon; Christophe Malcus; Yanick J Crow; John Brognard; Nathalie Bonnefoy
Journal:  Arthritis Rheum       Date:  2013-08
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  16 in total

Review 1.  Protein kinase C as a tumor suppressor.

Authors:  Alexandra C Newton
Journal:  Semin Cancer Biol       Date:  2017-05-02       Impact factor: 15.707

Review 2.  Novel Developments in Primary Immunodeficiencies (PID)-a Rheumatological Perspective.

Authors:  Helen Leavis; Jochen Zwerina; Bernhard Manger; Ruth D E Fritsch-Stork
Journal:  Curr Rheumatol Rep       Date:  2019-09-05       Impact factor: 4.592

Review 3.  Protein kinase C: perfectly balanced.

Authors:  Alexandra C Newton
Journal:  Crit Rev Biochem Mol Biol       Date:  2018-04       Impact factor: 8.250

4.  Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients.

Authors:  Hacer Akturk; Murat Sutcu; Ayper Somer; Sanem Piskin; Manolya Acar; Meral Ozmen; Umut Altinoglu; Burak Tatli; Nuran Salman
Journal:  World J Pediatr       Date:  2017-01-25       Impact factor: 2.764

5.  The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency.

Authors:  Hatice Ezgi Barış; Ayça Kıykım; Ercan Nain; Ahmet Oğuzhan Özen; Elif Karakoç-Aydıner; Safa Barış
Journal:  Turk Pediatri Ars       Date:  2016-12-01

Review 6.  Reversing the Paradigm: Protein Kinase C as a Tumor Suppressor.

Authors:  Alexandra C Newton; John Brognard
Journal:  Trends Pharmacol Sci       Date:  2017-03-08       Impact factor: 14.819

Review 7.  Monogenic systemic lupus erythematosus: insights in pathophysiology.

Authors:  Ezgi Deniz Batu
Journal:  Rheumatol Int       Date:  2018-05-15       Impact factor: 2.631

8.  Sirolimus is effective in autoimmune lymphoproliferative syndrome-type III: A pedigree case report with homozygous variation PRKCD.

Authors:  Hao Gu; Zhenping Chen; Jie Ma; Jing Wang; Rui Zhang; Runhui Wu; Tianyou Wang
Journal:  Int J Immunopathol Pharmacol       Date:  2021 Jan-Dec       Impact factor: 3.219

9.  Impaired respiratory burst contributes to infections in PKCδ-deficient patients.

Authors:  Kunihiko Moriya; Alejandro Nieto-Patlán; Figen Dogu; Sule Haskologlu; Erdal İnce; Jamel El-Benna; Gulbu Uzel; Ayca Kiykim; Kaan Boztug; Marion R Roderick; Mohammad Shahrooei; Paul A Brogan; Hassan Abolhassani; Gonca Hancioglu; Nima Parvaneh; Alexandre Belot; Aydan Ikinciogullari; Jean-Laurent Casanova; Anne Puel; Jacinta Bustamante; Anna-Lena Neehus; Tom Le Voyer; Romain Lévy; Ahmet Özen; Elif Karakoc-Aydiner; Safa Baris; Alisan Yildiran; Engin Altundag; Manon Roynard; Kathrin Haake; Mélanie Migaud; Karim Dorgham; Guy Gorochov; Laurent Abel; Nico Lachmann
Journal:  J Exp Med       Date:  2021-07-15       Impact factor: 14.307

Review 10.  Protein Kinase C δ: a Gatekeeper of Immune Homeostasis.

Authors:  Elisabeth Salzer; Elisangela Santos-Valente; Bärbel Keller; Klaus Warnatz; Kaan Boztug
Journal:  J Clin Immunol       Date:  2016-08-19       Impact factor: 8.317
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