Literature DB >> 25352054

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.

Heather N Hartman1,2, Julie Niemela3, Mary K Hintermeyer4, Mary Garofalo5, Jennifer Stoddard3, James W Verbsky1,6, Sergio D Rosenzweig7,8, John M Routes9,10,11.   

Abstract

Gain of function (GOF) mutation in the p110δ catalytic subunit of the phosphatidylinositol-3-OH kinase (PIK3CD) is the cause of a primary immunodeficiency (PID) characterized by recurrent sinopulmonary infections and lymphoproliferation. We describe a family of two adults and three children with GOF mutation in PIK3CD, all with recurrent sinopulmonary infections and varied infectious and non-infectious complications. The two adults have Primary Sclerosing Cholangitis (PSC) without evidence of Cryptosporidium parvum infection and have required liver transplantation. PSC is a novel phenotype of GOF mutation in PIK3CD.

Entities:  

Keywords:  PIK3CD; immunodeficiency; primary sclerosing cholangitis; recurrent infections

Mesh：

Substances：

Year:  2014        PMID： 25352054      PMCID： PMC4769101          DOI： 10.1007/s10875-014-0109-1

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


  11 in total

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Journal:  J Pediatr       Date:  1997-07       Impact factor: 4.406

Review 2.  Update on primary sclerosing cholangitis genetics.

Authors:  Eva K K Henriksen; Espen Melum; Tom H Karlsen
Journal:  Curr Opin Gastroenterol       Date:  2014-05       Impact factor: 3.287

3.  Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

Authors:  M C Crank; J K Grossman; S Moir; S Pittaluga; C M Buckner; L Kardava; A Agharahimi; H Meuwissen; J Stoddard; J Niemela; H Kuehn; S D Rosenzweig
Journal:  J Clin Immunol       Date:  2014-03-08       Impact factor: 8.317

Review 4.  Update on inflammatory bowel disease in patients with primary sclerosing cholangitis.

Authors:  Christos Tsaitas; Anysia Semertzidou; Emmanouil Sinakos
Journal:  World J Hepatol       Date:  2014-04-27

5.  The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.

Authors:  Jerry A Winkelstein; Mary C Marino; Hans Ochs; Ramsey Fuleihan; Paul R Scholl; Raif Geha; E Richard Stiehm; Mary Ellen Conley
Journal:  Medicine (Baltimore)       Date:  2003-11       Impact factor: 1.889

Review 6.  MHC class I and II deficiencies.

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Journal:  J Allergy Clin Immunol       Date:  2014-07-04       Impact factor: 10.793

7.  Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.

Authors:  Carrie L Lucas; Hye Sun Kuehn; Fang Zhao; Julie E Niemela; Elissa K Deenick; Umaimainthan Palendira; Danielle T Avery; Leen Moens; Jennifer L Cannons; Matthew Biancalana; Jennifer Stoddard; Weiming Ouyang; David M Frucht; V Koneti Rao; T Prescott Atkinson; Anahita Agharahimi; Ashleigh A Hussey; Les R Folio; Kenneth N Olivier; Thomas A Fleisher; Stefania Pittaluga; Steven M Holland; Jeffrey I Cohen; Joao B Oliveira; Stuart G Tangye; Pamela L Schwartzberg; Michael J Lenardo; Gulbu Uzel
Journal:  Nat Immunol       Date:  2013-10-28       Impact factor: 25.606

8.  Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome.

Authors:  Sven Kracker; James Curtis; Mohammad A A Ibrahim; Anna Sediva; Jon Salisbury; Vit Campr; Marianne Debré; J David M Edgar; Kohsuke Imai; Capucine Picard; Jean-Laurent Casanova; Alain Fischer; Sergey Nejentsev; Anne Durandy
Journal:  J Allergy Clin Immunol       Date:  2014-04-01       Impact factor: 10.793

9.  Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

Authors:  Ivan Angulo; Oscar Vadas; Fabien Garçon; Edward Banham-Hall; Vincent Plagnol; Timothy R Leahy; Helen Baxendale; Tanya Coulter; James Curtis; Changxin Wu; Katherine Blake-Palmer; Olga Perisic; Deborah Smyth; Mailis Maes; Christine Fiddler; Jatinder Juss; Deirdre Cilliers; Gašper Markelj; Anita Chandra; George Farmer; Anna Kielkowska; Jonathan Clark; Sven Kracker; Marianne Debré; Capucine Picard; Isabelle Pellier; Nada Jabado; James A Morris; Gabriela Barcenas-Morales; Alain Fischer; Len Stephens; Phillip Hawkins; Jeffrey C Barrett; Mario Abinun; Menna Clatworthy; Anne Durandy; Rainer Doffinger; Edwin R Chilvers; Andrew J Cant; Dinakantha Kumararatne; Klaus Okkenhaug; Roger L Williams; Alison Condliffe; Sergey Nejentsev
Journal:  Science       Date:  2013-10-17       Impact factor: 47.728

10.  Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.

Authors:  Daniel Kotlarz; Natalia Ziętara; Gulbu Uzel; Thomas Weidemann; Christian J Braun; Jana Diestelhorst; Peter M Krawitz; Peter N Robinson; Jochen Hecht; Jacek Puchałka; E Michael Gertz; Alejandro A Schäffer; Monica G Lawrence; Lela Kardava; Dietmar Pfeifer; Ulrich Baumann; Eva-Doreen Pfister; Eric P Hanson; Axel Schambach; Roland Jacobs; Hans Kreipe; Susan Moir; Joshua D Milner; Petra Schwille; Stefan Mundlos; Christoph Klein
Journal:  J Exp Med       Date:  2013-02-25       Impact factor: 14.307
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  23 in total

Review 1.  Genomics of Immune Diseases and New Therapies.

Authors:  Michael Lenardo; Bernice Lo; Carrie L Lucas
Journal:  Annu Rev Immunol       Date:  2015-12-23       Impact factor: 28.527

Review 2.  Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.

Authors:  Stuart G Tangye; Julia Bier; Anthony Lau; Tina Nguyen; Gulbu Uzel; Elissa K Deenick
Journal:  J Clin Immunol       Date:  2019-03-25       Impact factor: 8.317

Review 3.  Identifying genetic determinants of autoimmunity and immune dysregulation.

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Journal:  Curr Opin Immunol       Date:  2015-10-02       Impact factor: 7.486

4.  A suppressive oligodeoxynucleotide expressing TTAGGG motifs modulates cellular energetics through the mTOR signaling pathway.

Authors:  Volkan Yazar; Gizem Kilic; Ozlem Bulut; Tugce Canavar Yildirim; Fuat C Yagci; Gamze Aykut; Dennis M Klinman; Mayda Gursel; Ihsan Gursel
Journal:  Int Immunol       Date:  2020-01-09       Impact factor: 4.823

Review 5.  The role of PI3K/Akt in human herpesvirus infection: From the bench to the bedside.

Authors:  XueQiao Liu; Jeffrey I Cohen
Journal:  Virology       Date:  2015-03-20       Impact factor: 3.616

6.  Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

Authors:  Ying Wang; Wenjie Wang; Luyao Liu; Jia Hou; Wenjing Ying; Xiaoying Hui; Qinhua Zhou; Danru Liu; Haili Yao; Jinqiao Sun; Xiaochuan Wang
Journal:  J Clin Immunol       Date:  2018-11-29       Impact factor: 8.542

Review 7.  PI3Kδ and primary immunodeficiencies.

Authors:  Carrie L Lucas; Anita Chandra; Sergey Nejentsev; Alison M Condliffe; Klaus Okkenhaug
Journal:  Nat Rev Immunol       Date:  2016-09-12       Impact factor: 53.106

Review 8.  Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Authors:  Romane Thouenon; Nidia Moreno-Corona; Lucie Poggi; Anne Durandy; Sven Kracker
Journal:  Front Pediatr       Date:  2021-06-25       Impact factor: 3.418

Review 9.  Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency.

Authors:  Jean-Marie Carpier; Carrie L Lucas
Journal:  Front Immunol       Date:  2018-01-16       Impact factor: 7.561

Review 10.  Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases.

Authors:  Gillian L Dornan; John E Burke
Journal:  Front Immunol       Date:  2018-03-19       Impact factor: 7.561
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