Frontiers in Immunology | Primary Immunodeficiencies

Perspective

Published on 16 Mar 2018

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

in Primary Immunodeficiencies

Maria Elena Maccari
Hassan Abolhassani
Asghar Aghamohammadi
Alessandro Aiuti
Olga Aleinikova
Catherine Bangs
Safa Baris
Federica Barzaghi
Helen Baxendale
Matthew Buckland

Frontiers in Immunology

doi 10.3389/fimmu.2018.00543

19,035 views
162 citations

Case Report

Published on 15 Mar 2018

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing

in Primary Immunodeficiencies

Jamie A. Lopez
Tahereh Noori
Adrian Minson
Lu Li Jovanoska
Kevin Thia
Michael S. Hildebrand
Hedieh Akhlaghi
Phillip K. Darcy
Michael H. Kershaw
Natasha J. Brown

Frontiers in Immunology

doi 10.3389/fimmu.2018.00529

5,376 views
17 citations

Correction

Published on 15 Mar 2018

Corrigendum: Specific Antibody Deficiency: Controversies in Diagnosis and Management

in Primary Immunodeficiencies

Elena Perez
Francisco A. Bonilla
Jordan S. Orange
Mark Ballow

Frontiers in Immunology

doi 10.3389/fimmu.2018.00450

2,713 views
5 citations

Review

Published on 07 Mar 2018

Phosphoinositide-3-Kinase Signaling in Human Natural Killer Cells: New Insights from Primary Immunodeficiency

in Primary Immunodeficiencies

Emily M. Mace

Frontiers in Immunology

doi 10.3389/fimmu.2018.00445

8,827 views
38 citations

Original Research

Published on 07 Mar 2018

Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta

in Primary Immunodeficiencies

Marjolein W. J. Wentink
Yvonne M. Mueller
Virgil A. S. H. Dalm
Gertjan J. Driessen
P. Martin van Hagen
Joris M. van Montfrans
Mirjam van der Burg
Peter D. Katsikis

Frontiers in Immunology

doi 10.3389/fimmu.2018.00446

8,724 views
39 citations

Original Research

Published on 06 Mar 2018

Gene Profiling in Patients with Systemic Sclerosis Reveals the Presence of Oncogenic Gene Signatures

in Primary Immunodeficiencies

Marzia Dolcino
Andrea Pelosi
Piera Filomena Fiore
Giuseppe Patuzzo
Elisa Tinazzi
Claudio Lunardi
Antonio Puccetti

Frontiers in Immunology

doi 10.3389/fimmu.2018.00449

7,782 views
41 citations

Case Report

Published on 05 Mar 2018

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case

in Primary Immunodeficiencies

Gabrielle Bradshaw
Robbie R. Lualhati
Cassie L. Albury
Neven Maksemous
Deidre Roos-Araujo
Robert A. Smith
Miles C. Benton
David A. Eccles
Rod A. Lea
Heidi G. Sutherland

Frontiers in Immunology

doi 10.3389/fimmu.2018.00420

5,529 views
29 citations

Review

Published on 05 Mar 2018

Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome

in Primary Immunodeficiencies

Alison M. Condliffe
Anita Chandra

Frontiers in Immunology

doi 10.3389/fimmu.2018.00338

8,151 views
46 citations

Mini Review

Published on 27 Feb 2018

Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy

in Primary Immunodeficiencies

David Michalovich
Sergey Nejentsev

Frontiers in Immunology

doi 10.3389/fimmu.2018.00369

28,114 views
81 citations

Mini Review

Published on 27 Feb 2018

Epstein–Barr Virus+ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders

in Primary Immunodeficiencies

Thomas Magg
Tilmann Schober
Christoph Walz
Julia Ley-Zaporozhan
Fabio Facchetti
Christoph Klein
Fabian Hauck

Frontiers in Immunology

doi 10.3389/fimmu.2018.00368

12,875 views
57 citations

Mini Review

Published on 23 Feb 2018

Herpesviruses in the Activated Phosphatidylinositol-3-Kinase-δ Syndrome

in Primary Immunodeficiencies

Jeffrey I. Cohen

Frontiers in Immunology

doi 10.3389/fimmu.2018.00237

7,934 views
25 citations

Original Research

Published on 16 Feb 2018

Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country

in Primary Immunodeficiencies

Gesmar R. S. Segundo
Anh T. V. Nguyen
Huyen T. Thuc
Le N. Q. Nguyen
Roger H. Kobayashi
Hai T. Le
Huong T. M. Le
Troy R. Torgerson
Hans D. Ochs

Frontiers in Immunology

doi 10.3389/fimmu.2018.00289

3,688 views
11 citations

Original Research

Published on 16 Feb 2018

Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India

in Primary Immunodeficiencies

Jahnavi Aluri
Maya Gupta
Aparna Dalvi
Snehal Mhatre
Manasi Kulkarni
Gouri Hule
Mukesh Desai
Nitin Shah
Prasad Taur
Ramprasad Vedam

Frontiers in Immunology

doi 10.3389/fimmu.2018.00188

10,465 views
31 citations

Original Research

Published on 09 Feb 2018

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

in Primary Immunodeficiencies

Anas M. Alazami
Maryam Al-Helale
Safa Alhissi
Bandar Al-Saud
Huda Alajlan
Dorota Monies
Zeeshan Shah
Mohamed Abouelhoda
Rand Arnaout
Hasan Al-Dhekri

Frontiers in Immunology

doi 10.3389/fimmu.2018.00203

8,975 views
60 citations

Mini Review

Published on 08 Feb 2018

Impaired Control of Epstein–Barr Virus Infection in B-Cell Expansion with NF-κB and T-Cell Anergy Disease

in Primary Immunodeficiencies

Swadhinya Arjunaraja
Pamela Angelus
Helen C. Su
Andrew L. Snow

Frontiers in Immunology

doi 10.3389/fimmu.2018.00198

7,779 views
22 citations

Case Report

Published on 02 Feb 2018

First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature

in Primary Immunodeficiencies

Maddalena Migliavacca
Andrea Assanelli
Maurilio Ponzoni
Roberta Pajno
Federica Barzaghi
Fabio Giglio
Francesca Ferrua
Marta Frittoli
Immacolata Brigida
Francesca Dionisio

Frontiers in Immunology

doi 10.3389/fimmu.2018.00113

5,548 views
30 citations

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Articles

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing

Corrigendum: Specific Antibody Deficiency: Controversies in Diagnosis and Management

Phosphoinositide-3-Kinase Signaling in Human Natural Killer Cells: New Insights from Primary Immunodeficiency

Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta

Gene Profiling in Patients with Systemic Sclerosis Reveals the Presence of Oncogenic Gene Signatures

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case

Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome

Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy

Epstein–Barr Virus+ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders

Herpesviruses in the Activated Phosphatidylinositol-3-Kinase-δ Syndrome

Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country

Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

Impaired Control of Epstein–Barr Virus Infection in B-Cell Expansion with NF-κB and T-Cell Anergy Disease

First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature