Frontiers in Immunology | Primary Immunodeficiencies

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

6,242 views
28 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

8,674 views
35 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

5,447 views
30 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

6,650 views
18 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

9,991 views
25 citations

Mini Review

Published on 24 Nov 2017

Epstein–Barr Virus-Specific Immune Control by Innate Lymphocytes

in Primary Immunodeficiencies

Christian Münz

Frontiers in Immunology

doi 10.3389/fimmu.2017.01658

12,723 views
48 citations

Review

Published on 08 Nov 2017

A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay

in Primary Immunodeficiencies

Monica S. Thakar
Mary K. Hintermeyer
Miranda G. Gries
John M. Routes
James W. Verbsky

Frontiers in Immunology

doi 10.3389/fimmu.2017.01470

15,904 views
40 citations

Original Research

Published on 06 Nov 2017

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency—Clinical Achievements and Insights

in Primary Immunodeficiencies

Erez Rechavi
Atar Lev
Amos J. Simon
Tali Stauber
Suha Daas
Talia Saraf-Levy
Arnon Broides
Amit Nahum
Nufar Marcus
Suhair Hanna

Frontiers in Immunology

doi 10.3389/fimmu.2017.01448

8,270 views
82 citations

Case Report

Published on 06 Nov 2017

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications

in Primary Immunodeficiencies

Anoop Mistry
Thomas Scambler
David Parry
Mark Wood
Gabriela Barcenas-Morales
Clive Carter
Rainer Doffinger
Sinisa Savic

Frontiers in Immunology

doi 10.3389/fimmu.2017.01485

6,189 views
18 citations

Correction

Published on 10 Oct 2017

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

in Primary Immunodeficiencies

Kerry Dobbs
Giovanna Tabellini
Enrica Calzoni
Ornella Patrizi
Paula Martinez
Silvia Clara Giliani
Daniele Moratto
Waleed Al-Herz
Caterina Cancrini
Morton Cowan

Frontiers in Immunology

doi 10.3389/fimmu.2017.01244

3,587 views
6 citations

Correction

Published on 02 Oct 2017

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency

in Primary Immunodeficiencies

Carsten Speckmann
Sushree Sangita Sahoo
Marta Rizzi
Shinsuke Hirabayashi
Axel Karow
Nina Kathrin Serwas
Marc Hoemberg
Natalja Damatova
Detlev Schindler
Jean-Baptiste Vannier

Frontiers in Immunology

doi 10.3389/fimmu.2017.01250

3,666 views
1 citation

Original Research

Published on 28 Sep 2017

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

in Primary Immunodeficiencies

Jannica S. Selenius
Timi Martelius
Sampsa Pikkarainen
Sanna Siitonen
Eero Mattila
Risto Pietikäinen
Pekka Suomalainen
Arja H. Aalto
Janna Saarela
Elisabet Einarsdottir

Frontiers in Immunology

doi 10.3389/fimmu.2017.01190

11,334 views
64 citations

Case Report

Published on 26 Sep 2017

Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease

in Primary Immunodeficiencies

Roxane Labrosse
Jane Abou-Diab
Annaliesse Blincoe
Guilhem Cros
Thuy Mai Luu
Colette Deslandres
Martha Dirks
Laura Fazilleau
Philippe Ovetchkine
Pierre Teira

Frontiers in Immunology

doi 10.3389/fimmu.2017.01167

8,011 views
25 citations

Original Research

Published on 25 Sep 2017

Prolonged Excretion of Poliovirus among Individuals with Primary Immunodeficiency Disorder: An Analysis of the World Health Organization Registry

in Primary Immunodeficiencies

Grace Macklin
Yi Liao
Marina Takane
Kathleen Dooling
Stuart Gilmour
Ondrej Mach
Olen M. Kew
Roland W. Sutter
The iVDPV Working Group
Ousmane Diop

Frontiers in Immunology

doi 10.3389/fimmu.2017.01103

9,542 views
46 citations

Opinion

Published on 19 Sep 2017

Ensuring Access to Immunoglobulin Therapies for People with Primary Immunodeficiency: A Need to Improve Individuals’ Quality of Life and the Sustainability of Health-care Systems

in Primary Immunodeficiencies

Ahmed Aziz Bousfiha
Carla Duff
Elena Hsieh

Frontiers in Immunology

doi 10.3389/fimmu.2017.01165

4,419 views
12 citations

Original Research

Published on 07 Sep 2017

Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison

in Primary Immunodeficiencies

Reyin Lien
Yung-Feng Lin
Min-Wei Lai
Hui-Ying Weng
Ren-Chin Wu
Tang-Her Jaing
Jing-Long Huang
Shih-Feng Tsai
Wen-I Lee

Frontiers in Immunology

doi 10.3389/fimmu.2017.01066

11,494 views
50 citations

Perspective

Published on 07 Sep 2017

How Viruses Contribute to the Pathogenesis of Hemophagocytic Lymphohistiocytosis

in Primary Immunodeficiencies

Ellen Brisse
Carine H. Wouters
Graciela Andrei
Patrick Matthys

Frontiers in Immunology

doi 10.3389/fimmu.2017.01102

18,353 views
92 citations

Review

Published on 05 Sep 2017

Selective IgM Deficiency—An Underestimated Primary Immunodeficiency

in Primary Immunodeficiencies

Sudhir Gupta
Ankmalika Gupta

Frontiers in Immunology

doi 10.3389/fimmu.2017.01056

90,991 views
96 citations

Original Research

Published on 04 Sep 2017

CXCL12 Mediates Aberrant Costimulation of B Lymphocytes in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Immunodeficiency

in Primary Immunodeficiencies

Giuliana Roselli
Elisa Martini
Vassilios Lougaris
Raffaele Badolato
Antonella Viola
Marinos Kallikourdis

Frontiers in Immunology

doi 10.3389/fimmu.2017.01068

4,655 views
18 citations

Original Research

Published on 01 Sep 2017

Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1

in Primary Immunodeficiencies

Øyvind Bruserud
Eirik Bratland
Alexander Hellesen
Nicolas Delaleu
Håkon Reikvam
Bergithe E. Oftedal
Anette S. B. Wolff

Frontiers in Immunology

doi 10.3389/fimmu.2017.01074

4,858 views
7 citations

Original Research

Published on 16 Aug 2017

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency

in Primary Immunodeficiencies

Johanna Schepp
Janet Chou
Andrea Skrabl-Baumgartner
Peter D. Arkwright
Karin R. Engelhardt
Sophie Hambleton
Tomohiro Morio
Ekkehard Röther
Klaus Warnatz
Raif Geha

Frontiers in Immunology

doi 10.3389/fimmu.2017.00964

8,471 views
66 citations

Case Report

Published on 09 Aug 2017

Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D

in Primary Immunodeficiencies

Paul Edgar Gray
Bella Shadur
Susan Russell
Richard Mitchell
Michael Buckley
Kerri Gallagher
Ian Andrews
Kevin Thia
Joseph A. Trapani
Edwin Philip Kirk

Frontiers in Immunology

doi 10.3389/fimmu.2017.00944

4,694 views
20 citations

Review

Published on 09 Aug 2017

Primary Immunodeficiency Diseases: Current and Emerging Therapeutics

in Primary Immunodeficiencies

Beatriz E. Marciano
Steven M. Holland

Frontiers in Immunology

doi 10.3389/fimmu.2017.00937

14,948 views
41 citations

Original Research

Published on 02 Aug 2017

Intrinsic Plasma Cell Differentiation Defects in B Cell Expansion with NF-κB and T Cell Anergy Patient B Cells

in Primary Immunodeficiencies

Swadhinya Arjunaraja
Brent D. Nosé
Gauthaman Sukumar
Nathaniel M. Lott
Clifton L. Dalgard
Andrew L. Snow

Frontiers in Immunology

doi 10.3389/fimmu.2017.00913

7,831 views
36 citations

1,021 articles

articles

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

Epstein–Barr Virus-Specific Immune Control by Innate Lymphocytes

A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency—Clinical Achievements and Insights

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease

Prolonged Excretion of Poliovirus among Individuals with Primary Immunodeficiency Disorder: An Analysis of the World Health Organization Registry

Ensuring Access to Immunoglobulin Therapies for People with Primary Immunodeficiency: A Need to Improve Individuals’ Quality of Life and the Sustainability of Health-care Systems

Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison

How Viruses Contribute to the Pathogenesis of Hemophagocytic Lymphohistiocytosis

Selective IgM Deficiency—An Underestimated Primary Immunodeficiency

CXCL12 Mediates Aberrant Costimulation of B Lymphocytes in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Immunodeficiency

Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency

Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D

Primary Immunodeficiency Diseases: Current and Emerging Therapeutics

Intrinsic Plasma Cell Differentiation Defects in B Cell Expansion with NF-κB and T Cell Anergy Patient B Cells