Frontiers in Immunology | Primary Immunodeficiencies

Case Report

Published on 04 Jun 2018

Chronic Granulomatous Disease First Diagnosed in Adulthood Presenting With Spinal Cord Infection

in Primary Immunodeficiencies

Philipp Schwenkenbecher
Alexandra Neyazi
Frank Donnerstag
Felix C. Ringshausen
Roland Jacobs
Matthias Stoll
Philip Kirschner
Florian Peter Länger
Emil Valizada
Stefan Gingele

Frontiers in Immunology

doi 10.3389/fimmu.2018.01258

24,820 views
11 citations

Mini Review

Published on 24 May 2018

A Tumor Profile in Primary Immune Deficiencies Challenges the Cancer Immune Surveillance Concept

in Primary Immunodeficiencies

Daniel Satgé

Frontiers in Immunology

doi 10.3389/fimmu.2018.01149

13,112 views
33 citations

Original Research

Published on 17 May 2018

STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome

in Primary Immunodeficiencies

Shubham Goel
Smrity Sahu
Ranjana W. Minz
Surjit Singh
Deepti Suri
Young M. Oh
Amit Rawat
Shobha Sehgal
Biman Saikia

Frontiers in Immunology

doi 10.3389/fimmu.2018.01080

7,423 views
23 citations

Original Research

Published on 14 May 2018

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

in Primary Immunodeficiencies

Guillem de Valles-Ibáñez
Ana Esteve-Solé
Mònica Piquer
E. Azucena González-Navarro
Jessica Hernandez-Rodriguez
Hafid Laayouni
Eva González-Roca
Ana María Plaza-Martin
Ángela Deyà-Martínez
Andrea Martín-Nalda

Frontiers in Immunology

doi 10.3389/fimmu.2018.00636

29,419 views
150 citations

Original Research

Published on 14 May 2018

Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults

in Primary Immunodeficiencies

Charlotte A. Slade
Julian J. Bosco
Tran Binh Giang
Elizabeth Kruse
Robert G. Stirling
Paul U. Cameron
Fiona Hore-Lacy
Michael F. Sutherland
Sara L. Barnes
Stephen Holdsworth

Frontiers in Immunology

doi 10.3389/fimmu.2018.00694

13,276 views
74 citations

Case Report

Published on 11 May 2018

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

in Primary Immunodeficiencies

Frédéric Vély
Vincent Barlogis
Evelyne Marinier
Marie-Edith Coste
Béatrice Dubern
Emmanuelle Dugelay
Julie Lemale
Christine Martinez-Vinson
Noël Peretti
Ariane Perry

Frontiers in Immunology

doi 10.3389/fimmu.2018.01036

7,628 views
37 citations

Review

Published on 09 May 2018

“Immune TOR-opathies,” a Novel Disease Entity in Clinical Immunology

in Primary Immunodeficiencies

Sophie Jung
Laura Gámez-Díaz
Michele Proietti
Bodo Grimbacher

Frontiers in Immunology

doi 10.3389/fimmu.2018.00966

12,584 views
42 citations

Perspective

Published on 08 May 2018

Interleukin-2-Inducible T-Cell Kinase Deficiency—New Patients, New Insight?

in Primary Immunodeficiencies

Sujal Ghosh
Ingo Drexler
Sanil Bhatia
Heiko Adler
Andrew R. Gennery
Arndt Borkhardt

Frontiers in Immunology

doi 10.3389/fimmu.2018.00979

10,010 views
45 citations

Original Research

Published on 27 Apr 2018

Transitional B Cells and TLR9 Responses Are Defective in Selective IgA Deficiency

in Primary Immunodeficiencies

Andri L. Lemarquis
Helga K. Einarsdottir
Rakel N. Kristjansdottir
Ingileif Jonsdottir
Bjorn R. Ludviksson

Frontiers in Immunology

doi 10.3389/fimmu.2018.00909

7,534 views
19 citations

Methods

Published on 23 Apr 2018

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency

in Primary Immunodeficiencies

Laura Gámez-Díaz
Elena C. Sigmund
Veronika Reiser
Werner Vach
Sophie Jung
Bodo Grimbacher

Frontiers in Immunology

doi 10.3389/fimmu.2018.00720

8,699 views
30 citations

Original Research

Published on 16 Apr 2018

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots

in Primary Immunodeficiencies

Hamoud Al-Mousa
Ghadah Al-Dakheel
Amal Jabr
Fahd Elbadaoui
Mohamed Abouelhoda
Mansoor Baig
Dorota Monies
Brian Meyer
Abbas Hawwari
Majed Dasouki

Frontiers in Immunology

doi 10.3389/fimmu.2018.00782

14,775 views
74 citations

Case Report

Published on 11 Apr 2018

Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I

in Primary Immunodeficiencies

Sira Nanthapisal
Despina Eleftheriou
Kimberly Gilmour
Valentina Leone
Radhika Ramnath
Ebun Omoyinmi
Ying Hong
Nigel Klein
Paul A. Brogan

Frontiers in Immunology

doi 10.3389/fimmu.2018.00735

10,588 views
19 citations

Original Research

Published on 05 Apr 2018

Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome

in Primary Immunodeficiencies

Takaki Asano
Satoshi Okada
Miyuki Tsumura
Tzu-Wen Yeh
Kanako Mitsui-Sekinaka
Yuki Tsujita
Youjiro Ichinose
Akira Shimada
Kunio Hashimoto
Taizo Wada

Frontiers in Immunology

doi 10.3389/fimmu.2018.00568

10,783 views
27 citations

Original Research

Published on 04 Apr 2018

N-Formyl Peptide Receptors Induce Radical Oxygen Production in Fibroblasts Derived From Systemic Sclerosis by Interacting With a Cleaved Form of Urokinase Receptor

in Primary Immunodeficiencies

Filomena Napolitano
Francesca Wanda Rossi
Ada Pesapane
Silvia Varricchio
Gennaro Ilardi
Massimo Mascolo
Stefania Staibano
Antonio Lavecchia
Pia Ragno
Carmine Selleri

Frontiers in Immunology

doi 10.3389/fimmu.2018.00574

4,693 views
20 citations

Review

Published on 04 Apr 2018

X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective

in Primary Immunodeficiencies

Neelam Panchal
Claire Booth
Jennifer L. Cannons
Pamela L. Schwartzberg

Frontiers in Immunology

doi 10.3389/fimmu.2018.00666

19,810 views
74 citations

Original Research

Published on 29 Mar 2018

Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked

in Primary Immunodeficiencies

Jacob M. Rosenberg
Maria E. Maccari
Federica Barzaghi
Eric J. Allenspach
Claudio Pignata
Giovanna Weber
Troy R. Torgerson
Paul J. Utz
Rosa Bacchetta

Frontiers in Immunology

doi 10.3389/fimmu.2018.00544

7,336 views
65 citations

Original Research

Published on 29 Mar 2018

CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils

in Primary Immunodeficiencies

Nina K. Serwas
Jakob Huemer
Régis Dieckmann
Ester Mejstrikova
Wojciech Garncarz
Jiri Litzman
Birgit Hoeger
Ondrej Zapletal
Ales Janda
Keiryn L. Bennett

Frontiers in Immunology

doi 10.3389/fimmu.2018.00588

10,840 views
36 citations

Original Research

Published on 21 Mar 2018

Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies

in Primary Immunodeficiencies

Štefan Blazina
Maruša Debeljak
Mitja Košnik
Saša Simčič
Sanja Stopinšek
Gašper Markelj
Nataša Toplak
Peter Kopač
Breda Zakotnik
Marko Pokorn

Frontiers in Immunology

doi 10.3389/fimmu.2018.00500

7,085 views
10 citations

Original Research

Published on 21 Mar 2018

The Role of AIRE in the Immunity Against Candida Albicans in a Model of Human Macrophages

in Primary Immunodeficiencies

Jose Antonio Tavares de Albuquerque
Pinaki Prosad Banerjee
Angela Castoldi
Royce Ma
Nuria Bengala Zurro
Leandro Hideki Ynoue
Christina Arslanian
Marina Uchoa Wall Barbosa-Carvalho
Joya Emilie de Menezes Correia-Deur
Fernanda Guimarães Weiler

Frontiers in Immunology

doi 10.3389/fimmu.2018.00567

10,036 views
11 citations

Mini Review

Published on 19 Mar 2018

Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases

in Primary Immunodeficiencies

Gillian L. Dornan
John E. Burke

Frontiers in Immunology

doi 10.3389/fimmu.2018.00575

9,038 views
82 citations

Review

Published on 19 Mar 2018

Adoptive T Cell Therapy for Epstein–Barr Virus Complications in Patients With Primary Immunodeficiency Disorders

in Primary Immunodeficiencies

Lauren P. McLaughlin
Catherine M. Bollard
Michael D. Keller

Frontiers in Immunology

doi 10.3389/fimmu.2018.00556

11,218 views
30 citations

Perspective

Published on 16 Mar 2018

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

in Primary Immunodeficiencies

Maria Elena Maccari
Hassan Abolhassani
Asghar Aghamohammadi
Alessandro Aiuti
Olga Aleinikova
Catherine Bangs
Safa Baris
Federica Barzaghi
Helen Baxendale
Matthew Buckland

Frontiers in Immunology

doi 10.3389/fimmu.2018.00543

22,566 views
187 citations

Case Report

Published on 15 Mar 2018

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing

in Primary Immunodeficiencies

Jamie A. Lopez
Tahereh Noori
Adrian Minson
Lu Li Jovanoska
Kevin Thia
Michael S. Hildebrand
Hedieh Akhlaghi
Phillip K. Darcy
Michael H. Kershaw
Natasha J. Brown

Frontiers in Immunology

doi 10.3389/fimmu.2018.00529

6,812 views
21 citations

Correction

Published on 15 Mar 2018

Corrigendum: 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.2018.00450

3,560 views
5 citations

1,021 articles

articles

Chronic Granulomatous Disease First Diagnosed in Adulthood Presenting With Spinal Cord Infection

A Tumor Profile in Primary Immune Deficiencies Challenges the Cancer Immune Surveillance Concept

STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

“Immune TOR-opathies,” a Novel Disease Entity in Clinical Immunology

Interleukin-2-Inducible T-Cell Kinase Deficiency—New Patients, New Insight?

Transitional B Cells and TLR9 Responses Are Defective in Selective IgA Deficiency

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots

Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I

Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome

N-Formyl Peptide Receptors Induce Radical Oxygen Production in Fibroblasts Derived From Systemic Sclerosis by Interacting With a Cleaved Form of Urokinase Receptor

X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective

Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked

CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils

Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies

The Role of AIRE in the Immunity Against Candida Albicans in a Model of Human Macrophages

Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases

Adoptive T Cell Therapy for Epstein–Barr Virus Complications in Patients With Primary Immunodeficiency Disorders

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing

Corrigendum: Specific Antibody Deficiency: Controversies in Diagnosis and Management