Frontiers in Immunology | Primary Immunodeficiencies

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

3,805 views
18 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

13,406 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

6,049 views
30 citations

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

3,904 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

7,616 views
11 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

14,128 views
77 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

5,270 views
41 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

14,543 views
42 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

4,234 views
11 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

9,807 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

6,197 views
17 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

26,807 views
62 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

4,693 views
23 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

12,242 views
19 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

13,995 views
51 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

47,391 views
43 citations

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Articles

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

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