Frontiers in Immunology | Primary Immunodeficiencies

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

5,581 views
24 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

10,489 views
43 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

8,396 views
40 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

6,921 views
24 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

8,812 views
40 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

11,026 views
68 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

54,141 views
122 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

7,009 views
19 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

5,281 views
8 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

451,130 views
153 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

4,386 views
10 citations

Original Research

Published on 20 Dec 2017

Value of the Overall Pneumococcal Polysaccharide Response in the Diagnosis of Primary Humoral Immunodeficiencies

in Primary Immunodeficiencies

Benjamin Lopez
Mathilde Bahuaud
Claire Fieschi
Souad Mehlal
Mohamed Jeljeli
Stéphanie Rogeau
Séverine Brabant
Anne-Sophie Deleplancque
Sylvain Dubucquoi
Sandrine Poizot

Frontiers in Immunology

doi 10.3389/fimmu.2017.01862

5,198 views
24 citations

Original Research

Published on 15 Dec 2017

An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome

in Primary Immunodeficiencies

Heiko Sic
Matthaios Speletas
Vanessa Cornacchione
Maximillian Seidl
Martin Beibel
Bolan Linghu
Fan Yang
Eirini Sevdali
Anastasios E. Germenis
Edward J. Oakeley

Frontiers in Immunology

doi 10.3389/fimmu.2017.01824

6,614 views
28 citations

Original Research

Published on 06 Dec 2017

Adenosine A2A Receptor Deletion Blocks the Beneficial Effects of Lactobacillus reuteri in Regulatory T-Deficient Scurfy Mice

in Primary Immunodeficiencies

Baokun He
Thomas K. Hoang
Dat Q. Tran
Jon Marc Rhoads
Yuying Liu

Frontiers in Immunology

doi 10.3389/fimmu.2017.01680

4,093 views
24 citations

Original Research

Published on 04 Dec 2017

Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings

in Primary Immunodeficiencies

Barbara Pietrucha
Edyta Heropolitańska-Pliszka
Robert Geffers
Julia Enßen
Britta Wieland
Natalia Valerijevna Bogdanova
Thilo Dörk

Frontiers in Immunology

doi 10.3389/fimmu.2017.01683

5,304 views
15 citations

Original Research

Published on 27 Nov 2017

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

in Primary Immunodeficiencies

Nikola Schlechter
Brigitte Glanzmann
Eileen Garner Hoal
Mardelle Schoeman
Britt-Sabina Petersen
Andre Franke
Yu-Lung Lau
Michael Urban
Paul David van Helden
Monika Maria Esser

Frontiers in Immunology

doi 10.3389/fimmu.2017.01624

7,892 views
19 citations

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Articles

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

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

Chronic Active Epstein–Barr Virus Disease

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

Value of the Overall Pneumococcal Polysaccharide Response in the Diagnosis of Primary Humoral Immunodeficiencies

An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome

Adenosine A2A Receptor Deletion Blocks the Beneficial Effects of Lactobacillus reuteri in Regulatory T-Deficient Scurfy Mice

Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency