Frontiers in Immunology | Primary Immunodeficiencies

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

10,635 views
42 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

10,590 views
48 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

10,187 views
47 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

10,160 views
58 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

6,953 views
34 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

15,513 views
75 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

31,235 views
100 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

9,918 views
32 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

4,727 views
13 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

12,651 views
36 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

11,024 views
67 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

9,712 views
28 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

6,633 views
31 citations

Case Report

Published on 29 Jan 2018

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever

in Primary Immunodeficiencies

Roberta Caorsi
Marta Rusmini
Stefano Volpi
Sabrina Chiesa
Claudia Pastorino
Angela Rita Sementa
Paolo Uva
Alice Grossi
Edoardo Lanino
Maura Faraci

Frontiers in Immunology

doi 10.3389/fimmu.2017.02015

7,042 views
27 citations

Review

Published on 29 Jan 2018

Immunometabolism and PI(3)K Signaling As a Link between IL-2, Foxp3 Expression, and Suppressor Function in Regulatory T Cells

in Primary Immunodeficiencies

Martin Y. Fan
Laurence A. Turka

Frontiers in Immunology

doi 10.3389/fimmu.2018.00069

12,427 views
47 citations

Hypothesis and Theory

Published on 26 Jan 2018

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders

in Primary Immunodeficiencies

Rohan Ameratunga
See-Tarn Woon
Vanessa L. Bryant
Richard Steele
Charlotte Slade
Euphemia Yee Leung
Klaus Lehnert

Frontiers in Immunology

doi 10.3389/fimmu.2017.01965

9,980 views
45 citations

Review

Published on 18 Jan 2018

Human NF-κB1 Haploinsufficiency and Epstein–Barr Virus-Induced Disease—Molecular Mechanisms and Consequences

in Primary Immunodeficiencies

Birgit Hoeger
Nina Kathrin Serwas
Kaan Boztug

Frontiers in Immunology

doi 10.3389/fimmu.2017.01978

9,097 views
26 citations

Mini Review

Published on 16 Jan 2018

Epstein–Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency

in Primary Immunodeficiencies

Jean-Marie Carpier
Carrie L. Lucas

Frontiers in Immunology

doi 10.3389/fimmu.2017.02005

11,100 views
47 citations

Original Research

Published on 09 Jan 2018

Common Variable Immunodeficiency Non-Infectious Disease Endotypes Redefined Using Unbiased Network Clustering in Large Electronic Datasets

in Primary Immunodeficiencies

Jocelyn R. Farmer
Mei-Sing Ong
Sara Barmettler
Lael M. Yonker
Ramsay Fuleihan
Kathleen E. Sullivan
Charlotte Cunningham-Rundles
The USIDNET Consortium
Jolan E. Walter

Frontiers in Immunology

doi 10.3389/fimmu.2017.01740

13,205 views
84 citations

Review

Published on 08 Jan 2018

Epstein–Barr Virus and Hemophagocytic Lymphohistiocytosis

in Primary Immunodeficiencies

Rebecca A. Marsh

Frontiers in Immunology

doi 10.3389/fimmu.2017.01902

63,787 views
154 citations

Mini Review

Published on 22 Dec 2017

GATA2 Deficiency and Epstein–Barr Virus Disease

in Primary Immunodeficiencies

Jeffrey I. Cohen

Frontiers in Immunology

doi 10.3389/fimmu.2017.01869

8,693 views
22 citations

Mini Review

Published on 22 Dec 2017

Chronic Active Epstein–Barr Virus Disease

in Primary Immunodeficiencies

Hiroshi Kimura
Jeffrey I. Cohen

Frontiers in Immunology

doi 10.3389/fimmu.2017.01867

496,173 views
186 citations

Case Report

Published on 22 Dec 2017

Novel X-Linked Inhibitor of Apoptosis Mutation in Very Early-Onset Inflammatory Bowel Disease Child Successfully Treated with HLA-Haploidentical Hemapoietic Stem Cells Transplant after Removal of αβ+ T and B Cells

in Primary Immunodeficiencies

Cristina Cifaldi
Maria Chiriaco
Gigliola Di Matteo
Silvia Di Cesare
Scarselli Alessia
Paola De Angelis
Francesca Rea
Giulia Angelino
Maria Pastore
Valentina Ferradini

Frontiers in Immunology

doi 10.3389/fimmu.2017.01893

6,538 views
9 citations

Case Report

Published on 21 Dec 2017

Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement

in Primary Immunodeficiencies

Giuliana Giardino
Maia De Luca
Emilia Cirillo
Paolo Palma
Roberta Romano
Massimiliano Valeriani
Laura Papetti
Carol Saunders
Caterina Cancrini
Claudio Pignata

Frontiers in Immunology

doi 10.3389/fimmu.2017.01892

5,365 views
12 citations

1,021 articles

articles

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

Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome

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

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

Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy

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

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever

Immunometabolism and PI(3)K Signaling As a Link between IL-2, Foxp3 Expression, and Suppressor Function in Regulatory T Cells

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders

Human NF-κB1 Haploinsufficiency and Epstein–Barr Virus-Induced Disease—Molecular Mechanisms and Consequences

Epstein–Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency

Common Variable Immunodeficiency Non-Infectious Disease Endotypes Redefined Using Unbiased Network Clustering in Large Electronic Datasets

Epstein–Barr Virus and Hemophagocytic Lymphohistiocytosis

GATA2 Deficiency and Epstein–Barr Virus Disease

Chronic Active Epstein–Barr Virus Disease

Novel X-Linked Inhibitor of Apoptosis Mutation in Very Early-Onset Inflammatory Bowel Disease Child Successfully Treated with HLA-Haploidentical Hemapoietic Stem Cells Transplant after Removal of αβ+ T and B Cells

Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement