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Literature DB >> 25939554

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

Vassilios Lougaris¹, Flavio Faletra², Gaetana Lanzi³, Diego Vozzi², Annalisa Marcuzzi², Erica Valencic², Elisa Piscianz², AnnaMonica Bianco², Martina Girardelli², Manuela Baronio⁴, Claudia Loganes², Anders Fasth⁵, Filippo Salvini⁶, Antonino Trizzino⁷, Daniele Moratto³, Fabio Facchetti⁸, Silvia Giliani³, Alessandro Plebani⁴, Alberto Tommasini².

Abstract

Entities: Disease Gene Mutation Species

Keywords: B cells; Germinal Center (GC) reaction; Hyper-IgM syndrome; PIK3R1

Mesh：

Substances：

Year: 2015 PMID： 25939554 DOI： 10.1016/j.clim.2015.04.014

Source DB: PubMed Journal: Clin Immunol ISSN： 1521-6616 Impact factor: 3.969

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Cited

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18 in total

Review 1. 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

2. Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1.

Authors: Paoyun Tang; Julia E M Upton; Michelle A Barton-Forbes; Marina I Salvadori; Meghan P Clynick; April K Price; Sharan L Goobie
Journal: J Clin Immunol Date: 2017-11-25 Impact factor: 8.317

3. Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.

Authors: Neil Romberg; Carole Le Coz; Salomé Glauzy; Jean-Nicolas Schickel; Melissa Trofa; Brian E Nolan; Michele Paessler; Mina L Xu; Michele P Lambert; Saquib A Lakhani; Mustafa K Khokha; Soma Jyonouchi; Jennifer Heimall; Patricia Takach; Paul J Maglione; Jason Catanzaro; F Ida Hsu; Kathleen E Sullivan; Charlotte Cunningham-Rundles; Eric Meffre
Journal: J Allergy Clin Immunol Date: 2018-06-20 Impact factor: 10.793

4. Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Authors: Slavé Petrovski; Roberta E Parrott; Joseph L Roberts; Hongxiang Huang; Jialong Yang; Balachandra Gorentla; Talal Mousallem; Endi Wang; Martin Armstrong; Duncan McHale; Nancie J MacIver; David B Goldstein; Xiao-Ping Zhong; Rebecca H Buckley
Journal: J Clin Immunol Date: 2016-04-13 Impact factor: 8.317

Review 5. 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 6. 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

7. Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.

Authors: Nidia Moreno-Corona; Loïc Chentout; Lucie Poggi; Romane Thouenon; Cecile Masson; Melanie Parisot; Lou Le Mouel; Capucine Picard; Isabelle André; Marina Cavazzana; Laurence Perrin; Anne Durandy; Saba Azarnoush; Sven Kracker
Journal: Front Pediatr Date: 2021-06-24 Impact factor: 3.418