Literature DB >> 24240292

The expanding spectrum of the autoimmune lymphoproliferative syndromes.

João Bosco Oliveira1.   

Abstract

PURPOSE OF REVIEW: Several autoimmune lymphoproliferative syndromes have been described lately. We review here the main clinical and laboratory findings of these new disorders. RECENT
FINDINGS: The prototypical autoimmune lymphoproliferative syndrome (ALPS) has had its diagnostic criteria modified, somatic mutations in RAS genes were found to cause an ALPS-like syndrome in humans, and mutations in a gene encoding a protein kinase C (PRKCD) were discovered to cause a syndrome of lymphoproliferation, autoimmunity and natural killer cell defect.
SUMMARY: The recent discoveries shed light on the molecular pathways governing lymphocyte death, proliferation and immune tolerance in humans.

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Year:  2013        PMID： 24240292      PMCID： PMC4435794          DOI： 10.1097/MOP.0000000000000032

Source DB:  PubMed          Journal:  Curr Opin Pediatr        ISSN： 1040-8703            Impact factor:   2.856


  57 in total

1.  Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.

Authors:  R M Siegel; J K Frederiksen; D A Zacharias; F K Chan; M Johnson; D Lynch; R Y Tsien; M J Lenardo
Journal:  Science       Date:  2000-06-30       Impact factor: 47.728

Review 2.  New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome.

Authors:  David T Teachey
Journal:  Curr Opin Pediatr       Date:  2012-02       Impact factor: 2.856

3.  Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

Authors:  Aude Magerus-Chatinet; Bénédicte Neven; Marie-Claude Stolzenberg; Cécile Daussy; Peter D Arkwright; Nina Lanzarotti; Catherine Schaffner; Sophie Cluet-Dennetiere; Filomeen Haerynck; Gérard Michel; Christine Bole-Feysot; Mohammed Zarhrate; Isabelle Radford-Weiss; Serge P Romana; Capucine Picard; Alain Fischer; Frédéric Rieux-Laucat
Journal:  J Clin Invest       Date:  2010-12-22       Impact factor: 14.808

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.  Whole-exome-sequencing-based discovery of human FADD deficiency.

Authors:  Alexandre Bolze; Minji Byun; David McDonald; Neil V Morgan; Avinash Abhyankar; Lakshmanane Premkumar; Anne Puel; Chris M Bacon; Frédéric Rieux-Laucat; Ki Pang; Alison Britland; Laurent Abel; Andrew Cant; Eamonn R Maher; Stefan J Riedl; Sophie Hambleton; Jean-Laurent Casanova
Journal:  Am J Hum Genet       Date:  2010-11-25       Impact factor: 11.025

6.  Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation.

Authors:  Masatoshi Takagi; Kunihiro Shinoda; Jinhua Piao; Noriko Mitsuiki; Mari Takagi; Kazuyuki Matsuda; Hideki Muramatsu; Sayoko Doisaki; Masayuki Nagasawa; Tomohiro Morio; Yoshihito Kasahara; Kenichi Koike; Seiji Kojima; Akira Takao; Shuki Mizutani
Journal:  Blood       Date:  2010-11-09       Impact factor: 22.113

7.  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

8.  Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation.

Authors:  Fabian Hauck; Aude Magerus-Chatinet; Stephanie Vicca; Anne Rensing-Ehl; Angela Roesen-Wolff; Joachim Roesler; Frédéric Rieux-Laucat
Journal:  Clin Immunol       Date:  2013-03-05       Impact factor: 3.969

Review 9.  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

10.  Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib.

Authors:  Lilia L Bi; George Pan; T Prescott Atkinson; Lixin Zheng; Janet K Dale; Christopher Makris; Vishnu Reddy; Jay M McDonald; Richard M Siegel; Jennifer M Puck; Michael J Lenardo; Stephen E Straus
Journal:  BMC Med Genet       Date:  2007-07-02       Impact factor: 2.103
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  13 in total

1.  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 2.  Warm antibody autoimmune hemolytic anemia.

Authors:  Theodosia A Kalfa
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2016-12-02

3.  Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS).

Authors:  Lia Furlaneto Marega; Marcelo Ananias Teocchi; Maria Marluce Dos Santos Vilela
Journal:  Clin Exp Immunol       Date:  2016-05-24       Impact factor: 4.330

Review 4.  Syndrome-Associated Tumors by Organ System.

Authors:  Raul S Gonzalez; Nicole D Riddle
Journal:  J Pediatr Genet       Date:  2016-03-09

5.  Snai2 and Snai3 transcriptionally regulate cellular fitness and functionality of T cell lineages through distinct gene programs.

Authors:  Peter D Pioli; Sarah K Whiteside; Janis J Weis; John H Weis
Journal:  Immunobiology       Date:  2016-01-22       Impact factor: 3.144

6.  Ras Signaling Inhibitors Attenuate Disease in Adjuvant-Induced Arthritis via Targeting Pathogenic Antigen-Specific Th17-Type Cells.

Authors:  Morad Zayoud; Victoria Marcu-Malina; Einav Vax; Jasmine Jacob-Hirsch; Galit Elad-Sfadia; Iris Barshack; Yoel Kloog; Itamar Goldstein
Journal:  Front Immunol       Date:  2017-07-07       Impact factor: 7.561

Review 7.  Autoimmune lymphoproliferative syndrome: more than a FAScinating disease.

Authors:  Karen Bride; David Teachey
Journal:  F1000Res       Date:  2017-11-01

Review 8.  Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood.

Authors:  Miriam Erlacher; Brigitte Strahm
Journal:  Front Pediatr       Date:  2015-07-13       Impact factor: 3.418

Review 9.  Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.

Authors:  Luciana Hannibal; Vegard Lysne; Anne-Lise Bjørke-Monsen; Sidney Behringer; Sarah C Grünert; Ute Spiekerkoetter; Donald W Jacobsen; Henk J Blom
Journal:  Front Mol Biosci       Date:  2016-06-27

10.  Histiocytic cell neoplasms involving the bone marrow: summary of the workshop cases submitted to the 18th Meeting of the European Association for Haematopathology (EAHP) organized by the European Bone Marrow Working Group, Basel 2016.

Authors:  Alexandar Tzankov; Markus Kremer; Roos Leguit; Attilio Orazi; Jon van der Walt; Umberto Gianelli; Konnie M Hebeda
Journal:  Ann Hematol       Date:  2018-08-06       Impact factor: 3.673
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