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

7,612 views
18 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

10,476 views
40 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

13,064 views
34 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

6,374 views
75 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

4,877 views
16 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

2,507 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

2,748 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

8,995 views
56 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

6,588 views
23 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

6,639 views
42 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

3,513 views
11 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

6,816 views
42 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

15,721 views
79 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

85,154 views
77 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

3,585 views
17 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

3,979 views
5 citations

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Articles

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