Case Report

Published on 19 Feb 2021

Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity

in Primary Immunodeficiencies

Ioanna Papadatou
Nikolaos Marinakis
Evanthia Botsa
Marianna Tzanoudaki
Maria Kanariou
Irene Orfanou
Christina Kanaka-Gantenbein
Joanne Traeger-Synodinos
Vana Spoulou

Frontiers in Immunology

doi 10.3389/fimmu.2021.634313

8,236 views
18 citations

Original Research

Published on 18 Feb 2021

Life-Threatening Influenza, Hemophagocytic Lymphohistiocytosis and Probable Vaccine-Strain Varicella in a Novel Case of Homozygous STAT2 Deficiency

in Primary Immunodeficiencies

Bishara J. Freij
Aidan T. Hanrath
Rui Chen
Sophie Hambleton
Christopher J. A. Duncan

Frontiers in Immunology

doi 10.3389/fimmu.2020.624415

4,932 views
23 citations

Opinion

Published on 18 Feb 2021

Primary Immunodeficiencies: A Decade of Progress and a Promising Future

in Primary Immunodeficiencies

Isabelle Meyts
Aziz Bousfiha
Carla Duff
Surjit Singh
Yu Lung Lau
Antonio Condino-Neto
Liliana Bezrodnik
Adli Ali
Mehdi Adeli
Jose Drabwell

Frontiers in Immunology

doi 10.3389/fimmu.2020.625753

22,158 views
48 citations

Original Research

Published on 17 Feb 2021

Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints

in Primary Immunodeficiencies

Simone Giovannozzi
Jonas Demeulemeester
Rik Schrijvers
Rik Gijsbers

Frontiers in Immunology

doi 10.3389/fimmu.2021.632997

10,781 views
17 citations

Original Research

Published on 17 Feb 2021

Dissection of the Pre-Germinal Center B-Cell Maturation Pathway in Common Variable Immunodeficiency Based on Standardized Flow Cytometric EuroFlow Tools

in Primary Immunodeficiencies

Lucía del Pino-Molina
Eduardo López-Granados
Quentin Lecrevisse
Juan Torres Canizales
Martín Pérez-Andrés
Elena Blanco
Marjolein Wentink
Carolien Bonroy
Jana Nechvatalova
Tomas Milota

Frontiers in Immunology

doi 10.3389/fimmu.2020.603972

8,516 views
14 citations

Mini Review

Published on 16 Feb 2021

Use of the JAK Inhibitor Ruxolitinib in the Treatment of Hemophagocytic Lymphohistiocytosis

in Primary Immunodeficiencies

Camille Keenan
Kim E. Nichols
Sabrin Albeituni

Frontiers in Immunology

doi 10.3389/fimmu.2021.614704

31,104 views
111 citations

Original Research

Published on 15 Feb 2021

A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency

in Primary Immunodeficiencies

Tao Qin
Yanjun Jia
Yuhang Liu
Rongxin Dai
Lina Zhou
Satoshi Okada
Miyuki Tsumura
Hidenori Ohnishi
Zenichiro Kato
Hirokazu Kanegane

Frontiers in Immunology

doi 10.3389/fimmu.2020.517544

4,376 views
9 citations

Mini Review

Published on 11 Feb 2021

Update on Infections in Primary Antibody Deficiencies

in Primary Immunodeficiencies

Yesim Yilmaz Demirdag
Sudhir Gupta

Frontiers in Immunology

doi 10.3389/fimmu.2021.634181

11,288 views
27 citations

Original Research

Published on 08 Feb 2021

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India

in Primary Immunodeficiencies

Pandiarajan Vignesh
Amit Rawat
Rajni Kumrah
Ankita Singh
Anjani Gummadi
Madhubala Sharma
Anit Kaur
Johnson Nameirakpam
Ankur Jindal
Deepti Suri

Frontiers in Immunology

doi 10.3389/fimmu.2020.619146

11,970 views
39 citations

Original Research

Published on 05 Feb 2021

Bronchoalveolar Lavage Fluid Reflects a TH1-CD21low B-Cell Interaction in CVID-Related Interstitial Lung Disease

in Primary Immunodeficiencies

David Friedmann
Susanne Unger
Baerbel Keller
Mirzokhid Rakhmanov
Sigune Goldacker
Gernot Zissel
Björn C. Frye
Jonas C. Schupp
Antje Prasse
Klaus Warnatz

Frontiers in Immunology

doi 10.3389/fimmu.2020.616832

6,703 views
23 citations

Review

Published on 05 Feb 2021

B Cell Dysregulation in Common Variable Immunodeficiency Interstitial Lung Disease

in Primary Immunodeficiencies

Erik M. Matson
Miranda L. Abyazi
Kayla A. Bell
Kevin M. Hayes
Paul J. Maglione

Frontiers in Immunology

doi 10.3389/fimmu.2020.622114

11,314 views
26 citations

Original Research

Published on 28 Jan 2021

A Novel Branched DNA-Based Flowcytometric Method for Single-Cell Characterization of Gene Therapy Products and Expression of Therapeutic Genes

in Primary Immunodeficiencies

Laura Garcia-Perez
Marja C.J.A. van Eggermond
Elisa Maietta
Marie-Louise P. van der Hoorn
Karin Pike-Overzet
Frank J. T. Staal

Frontiers in Immunology

doi 10.3389/fimmu.2020.607991

8,338 views
5 citations

Mini Review

Published on 27 Jan 2021

An AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance

in Primary Immunodeficiencies

Elise M. N. Ferré
Michail S. Lionakis

Frontiers in Immunology

doi 10.3389/fimmu.2020.609253

4,777 views
14 citations

Original Research

Published on 26 Jan 2021

Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency—Features of CT and 18F-FDG Positron Emission Tomography/CT in Clinically Progressive Disease

in Primary Immunodeficiencies

Mai Sasaki Aanensen Fraz
Natasha Moe
Mona-Elisabeth Revheim
Maria L. Stavrinou
Michael T. Durheim
Ingvild Nordøy
Magnhild Eide Macpherson
Pål Aukrust
Silje Fjellgård Jørgensen
Trond Mogens Aaløkken

Frontiers in Immunology

doi 10.3389/fimmu.2020.617985

7,904 views
13 citations

Original Research

Published on 15 Jan 2021

Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India

in Primary Immunodeficiencies

Amit Rawat
Ankur Kumar Jindal
Deepti Suri
Pandiarajan Vignesh
Anju Gupta
Biman Saikia
Ranjana W. Minz
Aaqib Zaffar Banday
Rahul Tyagi
Kanika Arora

Frontiers in Immunology

doi 10.3389/fimmu.2020.612323

11,744 views
21 citations

Case Report

Published on 15 Jan 2021

Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia

in Primary Immunodeficiencies

Sara Ciullini Mannurita
Rayan Goda
Ebe Schiavo
Maria Luisa Coniglio
Annachiara Azzali
Ilaria Fotzi
Annalisa Tondo
Veronica Tintori
Stefano Frenos
Maria Chiara Sanvito

Frontiers in Immunology

doi 10.3389/fimmu.2020.620046

4,970 views
11 citations

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Articles

Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity

Life-Threatening Influenza, Hemophagocytic Lymphohistiocytosis and Probable Vaccine-Strain Varicella in a Novel Case of Homozygous STAT2 Deficiency

Primary Immunodeficiencies: A Decade of Progress and a Promising Future

Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints

Dissection of the Pre-Germinal Center B-Cell Maturation Pathway in Common Variable Immunodeficiency Based on Standardized Flow Cytometric EuroFlow Tools

Use of the JAK Inhibitor Ruxolitinib in the Treatment of Hemophagocytic Lymphohistiocytosis

A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency

Update on Infections in Primary Antibody Deficiencies

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India

Bronchoalveolar Lavage Fluid Reflects a TH1-CD21low B-Cell Interaction in CVID-Related Interstitial Lung Disease

B Cell Dysregulation in Common Variable Immunodeficiency Interstitial Lung Disease

A Novel Branched DNA-Based Flowcytometric Method for Single-Cell Characterization of Gene Therapy Products and Expression of Therapeutic Genes

An AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance

Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency—Features of CT and 18F-FDG Positron Emission Tomography/CT in Clinically Progressive Disease

Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India

Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia