Original Research

Published on 23 Jul 2020

PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome

in Primary Immunodeficiencies

Ema Lovšin
Jernej Kovač
Tine Tesovnik
Nataša Toplak
Daša Perko
Tomaž Rozmarič
Maruša Debeljak
Tadej Avčin

Frontiers in Immunology

doi 10.3389/fimmu.2020.01322

5,488 views
8 citations

Original Research

Published on 16 Jul 2020

Establishing Simultaneous T Cell Receptor Excision Circles (TREC) and K-Deleting Recombination Excision Circles (KREC) Quantification Assays and Laboratory Reference Intervals in Healthy Individuals of Different Age Groups in Hong Kong

in Primary Immunodeficiencies

Janette S. Y. Kwok
Stephen K. F. Cheung
Jenny C. Y. Ho
Ivan W. H. Tang
Patrick W. K. Chu
Eric Y. S. Leung
Pamela P. W. Lee
Daniel K. L. Cheuk
Vincent Lee
Patrick Ip

Frontiers in Immunology

doi 10.3389/fimmu.2020.01411

11,110 views
28 citations

Original Research

Published on 09 Jul 2020

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

in Primary Immunodeficiencies

Janne Strand
Kiran Aftab Gul
Hans Christian Erichsen
Emma Lundman
Mona C. Berge
Anette K. Trømborg
Linda K. Sørgjerd
Mari Ytre-Arne
Silje Hogner
Ruth Halsne

Frontiers in Immunology

doi 10.3389/fimmu.2020.01417

14,608 views
48 citations

Case Report

Published on 07 Jul 2020

Case Report—Secondary Antibody Deficiency Due to Endogenous Hypercortisolism

in Primary Immunodeficiencies

Jelena Sarcevic
Claudia Cavelti-Weder
Christoph T. Berger
Marten Trendelenburg

Frontiers in Immunology

doi 10.3389/fimmu.2020.01435

4,450 views
3 citations

Mini Review

Published on 30 Jun 2020

Deciphering the Role of Host Genetics in Susceptibility to Severe COVID-19

in Primary Immunodeficiencies

Madalina Elena Carter-Timofte
Sofie Eg Jørgensen
Mette Ratzer Freytag
Michelle Mølgaard Thomsen
Nanna-Sophie Brinck Andersen
Ali Al-Mousawi
Alon Schneider Hait
Trine H. Mogensen

Frontiers in Immunology

doi 10.3389/fimmu.2020.01606

18,880 views
46 citations

Original Research

Published on 30 Jun 2020

T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway

in Primary Immunodeficiencies

Barbara Piatosa
Beata Wolska-Kuśnierz
Katarzyna Tkaczyk
Edyta Heropolitanska-Pliszka
Urszula Grycuk
Anna Wakulinska
Hanna Gregorek

Frontiers in Immunology

doi 10.3389/fimmu.2020.01319

3,040 views
7 citations

Original Research

Published on 30 Jun 2020

Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development

in Primary Immunodeficiencies

Eyal Grunebaum
Nicholas Campbell
Matilde Leon-Ponte
Xiaobai Xu
Hugo Chapdelaine

Frontiers in Immunology

doi 10.3389/fimmu.2020.01257

5,412 views
12 citations

Original Research

Published on 26 Jun 2020

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency

in Primary Immunodeficiencies

Laura Dotta
Donatella Vairo
Mauro Giacomelli
Daniele Moratto
Nicola Tamassia
William Vermi
Silvia Lonardi
Jean-Laurent Casanova
Jacinta Bustamante
Silvia Giliani

Frontiers in Immunology

doi 10.3389/fimmu.2020.01161

3,457 views
6 citations

Original Research

Published on 25 Jun 2020

Lower T Regulatory and Th17 Cell Populations Predicted by RT-PCR-Amplified FOXP3 and RORγt Genes Are Not Rare in Patients With Primary Immunodeficiency Diseases

in Primary Immunodeficiencies

Wen-I Lee
Jing-Long Huang
Syh-Jae Lin
Kuo-Wei Yeh
Li-Chen Chen
Liang-Shiou Ou
Tsung-Chieh Yao
Tang-Her Jaing
Ying-Fan Shih
Chao-Yi Wu

Frontiers in Immunology

doi 10.3389/fimmu.2020.01111

4,451 views
10 citations

Case Report

Published on 25 Jun 2020

Autologous Stem Cell Transplantation in Common Variable Immunodeficiency: A Case of Successful Treatment of Severe Refractory Autoimmune Encephalitis

in Primary Immunodeficiencies

Matthias Froehlich
Eva C. Schwaneck
Michael Gernert
Ottar Gadeholt
Patrick-Pascal Strunz
Henner Morbach
Hans-Peter Tony
Marc Schmalzing

Frontiers in Immunology

doi 10.3389/fimmu.2020.01317

7,920 views
7 citations

Original Research

Published on 19 Jun 2020

Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency

in Primary Immunodeficiencies

Roos-Marijn Berbers
Firdaus A. A. Mohamed Hoesein
Pauline M. Ellerbroek
Joris M. van Montfrans
Virgil A. S. H. Dalm
P. Martin van Hagen
Fernanda L. Paganelli
Marco C. Viveen
Malbert R. C. Rogers
Pim A. de Jong

Frontiers in Immunology

doi 10.3389/fimmu.2020.01245

5,469 views
34 citations

Review

Published on 18 Jun 2020

Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations

in Primary Immunodeficiencies

Sophie Jung
Vincent Gies
Anne-Sophie Korganow
Aurélien Guffroy

Frontiers in Immunology

doi 10.3389/fimmu.2020.01065

15,985 views
16 citations

Case Report

Published on 18 Jun 2020

A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors

in Primary Immunodeficiencies

Jennifer R. Yonkof
Ajay Gupta
Cesar M. Rueda
Shamlal Mangray
Benjamin T. Prince
Hemalatha G. Rangarajan
Mohammad Alshahrani
Elizabeth Varga
Timothy P. Cripe
Roshini S. Abraham

Frontiers in Immunology

doi 10.3389/fimmu.2020.00884

7,326 views
31 citations

Original Research

Published on 10 Jun 2020

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

in Primary Immunodeficiencies

Svetlana O. Sharapova
Małgorzata Skomska-Pawliszak
Yulia A. Rodina
Beata Wolska-Kuśnierz
Nel Dabrowska-Leonik
Bozena Mikołuć
Olga E. Pashchenko
Srdjan Pasic
Tomáš Freiberger
Tomáš Milota

Frontiers in Immunology

doi 10.3389/fimmu.2020.00900

9,594 views
17 citations

Original Research

Published on 09 Jun 2020

Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype

in Primary Immunodeficiencies

Simone Giovannozzi
Veerle Lemmens
Jelle Hendrix
Rik Gijsbers
Rik Schrijvers

Frontiers in Immunology

doi 10.3389/fimmu.2020.01114

6,365 views
12 citations

Original Research

Published on 02 Jun 2020

Frequency and Manifestations of Autoimmunity Among Children Registered in the Kuwait National Primary Immunodeficiency Registry

in Primary Immunodeficiencies

Michel J. Massaad
Mohammad Zainal
Waleed Al-Herz

Frontiers in Immunology

doi 10.3389/fimmu.2020.01119

3,671 views
22 citations

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Articles

PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome

Establishing Simultaneous T Cell Receptor Excision Circles (TREC) and K-Deleting Recombination Excision Circles (KREC) Quantification Assays and Laboratory Reference Intervals in Healthy Individuals of Different Age Groups in Hong Kong

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

Case Report—Secondary Antibody Deficiency Due to Endogenous Hypercortisolism

Deciphering the Role of Host Genetics in Susceptibility to Severe COVID-19

T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway

Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency

Lower T Regulatory and Th17 Cell Populations Predicted by RT-PCR-Amplified FOXP3 and RORγt Genes Are Not Rare in Patients With Primary Immunodeficiency Diseases

Autologous Stem Cell Transplantation in Common Variable Immunodeficiency: A Case of Successful Treatment of Severe Refractory Autoimmune Encephalitis

Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency

Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations

A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype

Frequency and Manifestations of Autoimmunity Among Children Registered in the Kuwait National Primary Immunodeficiency Registry