Frontiers in Immunology | Primary Immunodeficiencies

Original Research

Published on 31 Jul 2017

Total and High Molecular Weight Adiponectin Expression Is Decreased in Patients with Common Variable Immunodeficiency: Correlation with Ig Replacement Therapy

in Primary Immunodeficiencies

Antonio Pecoraro
Ersilia Nigro
Rita Polito
Maria Ludovica Monaco
Olga Scudiero
Ilaria Mormile
Azzurra Cesoni Marcelli
Mario Capasso
Francesco Habetswallner
Arturo Genovese

Frontiers in Immunology

doi 10.3389/fimmu.2017.00895

4,902 views
27 citations

Case Report

Published on 28 Jul 2017

First Association of Interleukin 12 Receptor Beta 1 Deficiency with Sjögren’s Syndrome

in Primary Immunodeficiencies

Georgios Sogkas
Faranaz Atschekzei
Vivien Schacht
Christian von Falck
Alexandra Jablonka
Roland Jacobs
Matthias Stoll
Torsten Witte
Reinhold E. Schmidt

Frontiers in Immunology

doi 10.3389/fimmu.2017.00885

9,495 views
12 citations

Review

Published on 24 Jul 2017

Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies

in Primary Immunodeficiencies

Michael Seleman
Rodrigo Hoyos-Bachiloglu
Raif S. Geha
Janet Chou

Frontiers in Immunology

doi 10.3389/fimmu.2017.00847

16,337 views
86 citations

Original Research

Published on 24 Jul 2017

Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT)

in Primary Immunodeficiencies

Elena Deripapa
Dmitry Balashov
Yulia Rodina
Alexandra Laberko
Natalya Myakova
Nataliia V. Davydova
Maria A. Gordukova
Dmitrii S. Abramov
Galina V. Pay
Larisa Shelikhova

Frontiers in Immunology

doi 10.3389/fimmu.2017.00807

6,458 views
48 citations

Original Research

Published on 17 Jul 2017

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.2017.00798

17,528 views
46 citations

Original Research

Published on 12 Jul 2017

Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients

in Primary Immunodeficiencies

Raquel Ruiz-García
Carmen Rodríguez-Vigil
Francisco Manuel Marco
Fernando Gallego-Bustos
María José Castro-Panete
Laura Diez-Alonso
Carlos Muñoz-Ruiz
Jesús Ruiz-Contreras
Estela Paz-Artal
Luis Ignacio González-Granado

Frontiers in Immunology

doi 10.3389/fimmu.2017.00802

5,277 views
13 citations

Original Research

Published on 12 Jul 2017

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency

in Primary Immunodeficiencies

Anderson Dik Wai Luk
Pamela P. Lee
Huawei Mao
Koon-Wing Chan
Xiang Yuan Chen
Tong-Xin Chen
Jian Xin He
Nadia Kechout
Deepti Suri
Yin Bo Tao

Frontiers in Immunology

doi 10.3389/fimmu.2017.00808

12,381 views
30 citations

Case Report

Published on 30 Jun 2017

Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome

in Primary Immunodeficiencies

Katharina L. Gössling
Cyrill Schipp
Ute Fischer
Florian Babor
Gerhard Koch
Friedhelm R. Schuster
Jutta Dietzel-Dahmen
Dagmar Wieczorek
Arndt Borkhardt
Roland Meisel

Frontiers in Immunology

doi 10.3389/fimmu.2017.00773

7,381 views
18 citations

Review

Published on 28 Jun 2017

Cellular and Molecular Defects Underlying Invasive Fungal Infections—Revelations from Endemic Mycoses

in Primary Immunodeficiencies

Pamela P. Lee
Yu-Lung Lau

Frontiers in Immunology

doi 10.3389/fimmu.2017.00735

35,606 views
73 citations

Mini Review

Published on 27 Jun 2017

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population

in Primary Immunodeficiencies

Mohamed-Ridha Barbouche
Najla Mekki
Meriem Ben-Ali
Imen Ben-Mustapha

Frontiers in Immunology

doi 10.3389/fimmu.2017.00737

6,266 views
28 citations

Original Research

Published on 26 Jun 2017

Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients

in Primary Immunodeficiencies

Jakob Theorell
Indre Bileviciute-Ljungar
Bianca Tesi
Heinrich Schlums
Mette Sophie Johnsgaard
Babak Asadi-Azarbaijani
Elin Bolle Strand
Yenan T. Bryceson

Frontiers in Immunology

doi 10.3389/fimmu.2017.00723

14,881 views
25 citations

Mini Review

Published on 26 Jun 2017

Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care

in Primary Immunodeficiencies

Hamoud Al-Mousa
Bandar Al-Saud

Frontiers in Immunology

doi 10.3389/fimmu.2017.00678

16,651 views
63 citations

Review

Published on 19 Jun 2017

Recurrent and Sustained Viral Infections in Primary Immunodeficiencies

in Primary Immunodeficiencies

Melanie A. Ruffner
Kathleen E. Sullivan
Sarah E. Henrickson

Frontiers in Immunology

doi 10.3389/fimmu.2017.00665

52,145 views
49 citations

Perspective

Published on 19 Jun 2017

Primary Immunodeficiency Disorders in India—A Situational Review

in Primary Immunodeficiencies

Ankur Kumar Jindal
Rakesh Kumar Pilania
Amit Rawat
Surjit Singh

Frontiers in Immunology

doi 10.3389/fimmu.2017.00714

15,360 views
44 citations

Perspective

Published on 16 Jun 2017

Modulatory Effects of Antibody Replacement Therapy to Innate and Adaptive Immune Cells

in Primary Immunodeficiencies

Isabella Quinti
Milica Mitrevski

Frontiers in Immunology

doi 10.3389/fimmu.2017.00697

4,798 views
23 citations

Original Research

Published on 13 Jun 2017

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication

in Primary Immunodeficiencies

Asghar Aghamohammadi
Hassan Abolhassani
Necil Kutukculer
Steve G. Wassilak
Mark A. Pallansch
Samantha Kluglein
Jessica Quinn
Roland W. Sutter
Xiaochuan Wang
Ozden Sanal

Frontiers in Immunology

doi 10.3389/fimmu.2017.00685

15,255 views
55 citations

Case Report

Published on 26 May 2017

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

in Primary Immunodeficiencies

Ivan K. Chinn
Robert P. Sanders
Asbjørg Stray-Pedersen
Zeynep H. Coban-Akdemir
Vy Hong-Diep Kim
Harjit Dadi
Chaim M. Roifman
Troy Quigg
James R. Lupski
Jordan S. Orange

Frontiers in Immunology

doi 10.3389/fimmu.2017.00576

5,465 views
22 citations

Review

Published on 22 May 2017

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.2017.00586

81,089 views
82 citations

Original Research

Published on 12 May 2017

Fifth Percentile Cutoff Values for Antipneumococcal Polysaccharide and Anti-Salmonella typhi Vi IgG Describe a Normal Polysaccharide Response

in Primary Immunodeficiencies

Heidi Schaballie
Barbara Bosch
Rik Schrijvers
Marijke Proesmans
Kris De Boeck
Mieke Nelly Boon
François Vermeulen
Natalie Lorent
Doreen Dillaerts
Glynis Frans

Frontiers in Immunology

doi 10.3389/fimmu.2017.00546

6,057 views
33 citations

Case Report

Published on 11 May 2017

Major CD4 T-Cell Depletion and Immune Senescence in a Patient with Chronic Granulomatous Disease

in Primary Immunodeficiencies

Adriana S. Albuquerque
Susana M. Fernandes
Rita Tendeiro
Rémi Cheynier
Margarida Lucas
Susana L. Silva
Rui M. M. Victorino
Ana E. Sousa

Frontiers in Immunology

doi 10.3389/fimmu.2017.00543

5,797 views
13 citations

Original Research

Published on 02 May 2017

In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott–Aldrich Syndrome Protein-Deficient B Cells

in Primary Immunodeficiencies

Maria Carmina Castiello
Francesca Pala
Lucia Sereni
Elena Draghici
Donato Inverso
Aisha V. Sauer
Francesca Schena
Elena Fontana
Enrico Radaelli
Paolo Uva

Frontiers in Immunology

doi 10.3389/fimmu.2017.00490

4,721 views
7 citations

Original Research

Published on 01 May 2017

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.2017.00449

16,775 views
51 citations

Original Research

Published on 18 Apr 2017

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak–Higashi Syndrome Patients

in Primary Immunodeficiencies

Samuel C. C. Chiang
Stephanie M. Wood
Bianca Tesi
Himmet Haluk Akar
Waleed Al-Herz
Sandra Ammann
Fatma Burcu Belen
Umran Caliskan
Zühre Kaya
Kai Lehmberg

Frontiers in Immunology

doi 10.3389/fimmu.2017.00426

7,633 views
35 citations

Case Report

Published on 18 Apr 2017

Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome

in Primary Immunodeficiencies

Maria J. Gutierrez
Julieta Gilson
Jamie Zacharias
Faoud Ishmael
C. April Bingham

Frontiers in Immunology

doi 10.3389/fimmu.2017.00377

6,159 views
13 citations

1,021 articles

articles

Total and High Molecular Weight Adiponectin Expression Is Decreased in Patients with Common Variable Immunodeficiency: Correlation with Ig Replacement Therapy

First Association of Interleukin 12 Receptor Beta 1 Deficiency with Sjögren’s Syndrome

Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies

Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT)

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

Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency

Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome

Cellular and Molecular Defects Underlying Invasive Fungal Infections—Revelations from Endemic Mycoses

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population

Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients

Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care

Recurrent and Sustained Viral Infections in Primary Immunodeficiencies

Primary Immunodeficiency Disorders in India—A Situational Review

Modulatory Effects of Antibody Replacement Therapy to Innate and Adaptive Immune Cells

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

Specific Antibody Deficiency: Controversies in Diagnosis and Management

Fifth Percentile Cutoff Values for Antipneumococcal Polysaccharide and Anti-Salmonella typhi Vi IgG Describe a Normal Polysaccharide Response

Major CD4 T-Cell Depletion and Immune Senescence in a Patient with Chronic Granulomatous Disease

In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott–Aldrich Syndrome Protein-Deficient B Cells

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak–Higashi Syndrome Patients

Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome