Frontiers in Immunology | Primary Immunodeficiencies

Original Research

Published on 22 Sep 2023

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia

in Primary Immunodeficiencies

Chai Teng Chear
Intan Hakimah Ismail
Kwai Cheng Chan
Lokman Mohd Noh
Asiah Kassim
Amir Hamzah Abdul Latiff
Sandeep Singh Gill
Nazatul Haslina Ramly
Kah Kee Tan
Charlotte Sundaraj

Frontiers in Immunology

doi 10.3389/fimmu.2023.1252765

6,026 views
5 citations

Mini Review

Published on 22 Sep 2023

Human inborn errors of immunity associated with IRF4

in Primary Immunodeficiencies

Romane Thouenon
Sven Kracker

Frontiers in Immunology

doi 10.3389/fimmu.2023.1236889

9,297 views
1 citation

Case Report

Published on 19 Sep 2023

Rituximab and improved nodular regenerative hyperplasia-associated non-cirrhotic liver disease in common variable immunodeficiency: a case report and literature study

in Primary Immunodeficiencies

Willem Roosens
Frederik Staels
Sien Van Loo
Stephanie Humblet-Baron
Isabelle Meyts
Hadewijch De Samblanx
Chris Verslype
Hannah van Malenstein
Schalk van der Merwe
Wim Laleman

Frontiers in Immunology

doi 10.3389/fimmu.2023.1264482

5,274 views
6 citations

Case Report

Published on 18 Sep 2023

Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia

in Primary Immunodeficiencies

María Enriqueta Núñez-Núñez
Juan Carlos Lona-Reyes
Brenda López-Barragán
Rosa Margarita Cruz-Osorio
Bricia Melissa Gutiérrez-Zepeda
Antonio Quintero-Ramos
Denisse Stephania Becerra-Loaiza

Frontiers in Immunology

doi 10.3389/fimmu.2023.1194262

2,809 views
1 citation

Perspective

Published on 13 Sep 2023

Transition for adolescents with learning disabilities and an immunodeficiency

in Primary Immunodeficiencies

Eliška Alderson
Sarah Lally
Mari Campbell

Frontiers in Immunology

doi 10.3389/fimmu.2023.1211872

3,353 views

Case Report

Published on 13 Sep 2023

Rare solid tumors in a patient with Wiskott–Aldrich syndrome after hematopoietic stem cell transplantation: case report and review of literature

in Primary Immunodeficiencies

Emma Coppola
Giuliana Giardino
Massimo Abate
Francesco Paolo Tambaro
Delfina Bifano
Elisabetta Toriello
Antonio De Rosa
Francesca Cillo
Claudio Pignata
Emilia Cirillo

Frontiers in Immunology

doi 10.3389/fimmu.2023.1229674

4,253 views
3 citations

Case Report

Published on 12 Sep 2023

Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels

in Primary Immunodeficiencies

Christofer Äng
Rolf H. Zetterström
Kim Ramme
Emma Axelsen
Per Marits
Mikael Sundin

Frontiers in Immunology

doi 10.3389/fimmu.2023.1257581

2,803 views
3 citations

Original Research

Published on 30 Aug 2023

Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort

in Primary Immunodeficiencies

David A. Sanchez
Karina Rotella
Crhistian Toribio
Matthew Hernandez
Charlotte Cunningham-Rundles

Frontiers in Immunology

doi 10.3389/fimmu.2023.1209570

5,888 views
17 citations

Case Report

Published on 23 Aug 2023

Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis

in Primary Immunodeficiencies

Xin Huang
Bingxuan Wu
Di Wu
Xiaoming Huang
Min Shen

Frontiers in Immunology

doi 10.3389/fimmu.2023.1191757

3,272 views
3 citations

Original Research

Published on 17 Aug 2023

Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function

in Primary Immunodeficiencies

Jingjie Chang
Motoi Yamashita
Aditya K. Padhi
Kam Y. J. Zhang
Ichiro Taniuchi

Frontiers in Immunology

doi 10.3389/fimmu.2023.1239779

3,417 views
6 citations

Hypothesis and Theory

Published on 15 Aug 2023

The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities — proceedings from the IPOPI global multi-stakeholders’ summit (June 2022)

in Primary Immunodeficiencies

Susan Tadros
Johan Prévot
Isabelle Meyts
Silvia Sánchez-Ramón
Nahla H. Erwa
Alain Fischer
Guillaume Lefevre
Matthew Hotchko
Peter M. Jaworski
Helen Leavis

Frontiers in Immunology

doi 10.3389/fimmu.2023.1245718

7,626 views
6 citations

Case Report

Published on 03 Aug 2023

Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature

in Primary Immunodeficiencies

S. Ricci
S. Abu-Rumeileh
N. Campagna
F. Barbati
S. Stagi
C. Canessa
L. Lodi
B. Palterer
L. Maggi
A. Matucci

Frontiers in Immunology

doi 10.3389/fimmu.2023.1224603

3,662 views
1 citation

Original Research

Published on 31 Jul 2023

Transitioning from pediatric to adult healthcare with an inborn error of immunity: a qualitative study of the lived experience of youths and their families

in Primary Immunodeficiencies

François Ouimet
Justine Fortin
Aline Bogossian
Nicole Padley
Hugo Chapdelaine
Eric Racine

Frontiers in Immunology

doi 10.3389/fimmu.2023.1211524

3,922 views
6 citations

Review

Published on 20 Jul 2023

Disturbed lipid profile in common variable immunodeficiency – a pathogenic loop of inflammation and metabolic disturbances

in Primary Immunodeficiencies

Silje F. Jorgensen
Magnhild E. Macpherson
Tonje Skarpengland
Rolf K. Berge
Børre Fevang
Bente Halvorsen
Pål Aukrust

Frontiers in Immunology

doi 10.3389/fimmu.2023.1199727

6,010 views
14 citations

Review

Published on 20 Jul 2023

Activated PI3Kδ syndrome – reviewing challenges in diagnosis and treatment

in Primary Immunodeficiencies

Sven Vanselow
Volker Wahn
Catharina Schuetz

Frontiers in Immunology

doi 10.3389/fimmu.2023.1208567

15,010 views
31 citations

Original Research

Published on 13 Jul 2023

Natural killer cell-related prognostic risk model predicts prognosis and treatment outcomes in triple-negative breast cancer

in Primary Immunodeficiencies

Zundong Liu
Mingji Ding
Pengjun Qiu
Kelun Pan
Qiaonan Guo

Frontiers in Immunology

doi 10.3389/fimmu.2023.1200282

11,428 views
29 citations

Original Research

Published on 13 Jul 2023

Transition practice for primary immunodeficiency diseases in Southeast Asia: a regional survey

in Primary Immunodeficiencies

Chee Mun Chan
Amir Hamzah Abdul Latiff
Lokman Mohd Noh
Intan Hakimah Ismail
Intan Juliana Abd Hamid
Woei Kang Liew
Youjia Zhong
Narissara Suratannon
Rapisa Nantanee
Fatima Johanna Santos-Ocampo

Frontiers in Immunology

doi 10.3389/fimmu.2023.1209315

4,534 views
8 citations

Review

Published on 11 Jul 2023

The recombinase activating genes: architects of immune diversity during lymphocyte development

in Primary Immunodeficiencies

Merijn Braams
Karin Pike-Overzet
Frank J. T. Staal

Frontiers in Immunology

doi 10.3389/fimmu.2023.1210818

11,456 views
22 citations

Review

Published on 05 Jul 2023

B cell abnormalities and autoantibody production in patients with partial RAG deficiency

in Primary Immunodeficiencies

Qing Min
Krisztian Csomos
Yaxuan Li
Lulu Dong
Ziying Hu
Xin Meng
Meiping Yu
Jolan E. Walter
Ji-Yang Wang

Frontiers in Immunology

doi 10.3389/fimmu.2023.1155380

4,892 views
5 citations

Case Report

Published on 26 Jun 2023

Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review

in Primary Immunodeficiencies

Elena Sophia Fratini
Maddalena Migliavacca
Federica Barzaghi
Claudia Fossati
Stefania Giannelli
Ilaria Monti
Miriam Casiraghi
Francesca Ferrua
Salvatore Recupero
Giulia Consiglieri

Frontiers in Immunology

doi 10.3389/fimmu.2023.1187959

6,237 views
3 citations

Correction

Published on 19 Jun 2023

Corrigendum: Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

in Primary Immunodeficiencies

Soon Sung Kwon
Youn Keong Cho
Seungmin Hahn
Jiyoung Oh
Dongju Won
Saeam Shin
Ji-Man Kang
Jong Gyun Ahn
Seung-Tae Lee
Jong Rak Choi

Frontiers in Immunology

doi 10.3389/fimmu.2023.1235318

1,435 views
1 citation

Editorial

Published on 13 Jun 2023

Editorial: Advances in primary immunodeficiencies (inborn errors of immunity) in Central-Eastern Europe, volume II

in Primary Immunodeficiencies

Malgorzata Pac
Jean-Laurent Casanova
Irina Tuzankina
László Maródi

Frontiers in Immunology

doi 10.3389/fimmu.2023.1221137

2,805 views

Case Report

Published on 12 Jun 2023

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

in Primary Immunodeficiencies

Adriel Roa-Bautista
Mahreen Sohail
Emma Wakeling
Kimberly C. Gilmour
Mark Davis
Anthony Gait
Giovanna Lucchini
David Cox
Reem Elfeky
Maaike Kusters

Frontiers in Immunology

doi 10.3389/fimmu.2023.1186575

4,636 views
4 citations

Original Research

Published on 07 Jun 2023

The Wiskott–Aldrich syndrome protein is required for positive selection during T-cell lineage differentiation

in Primary Immunodeficiencies

Melissa Pille
John Avila
Guillem Sanchez Sanchez
Glenn Goetgeluk
Stijn De Munter
Hanne Jansen
Lore Billiet
Karin Weening
Haipeng Xue
Sarah Bonte

Frontiers in Immunology

doi 10.3389/fimmu.2023.1188099

5,198 views
6 citations

997 articles

articles

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia

Human inborn errors of immunity associated with IRF4

Rituximab and improved nodular regenerative hyperplasia-associated non-cirrhotic liver disease in common variable immunodeficiency: a case report and literature study

Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia

Transition for adolescents with learning disabilities and an immunodeficiency

Rare solid tumors in a patient with Wiskott–Aldrich syndrome after hematopoietic stem cell transplantation: case report and review of literature

Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels

Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort

Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis

Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function

The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities — proceedings from the IPOPI global multi-stakeholders’ summit (June 2022)

Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature

Transitioning from pediatric to adult healthcare with an inborn error of immunity: a qualitative study of the lived experience of youths and their families

Disturbed lipid profile in common variable immunodeficiency – a pathogenic loop of inflammation and metabolic disturbances

Activated PI3Kδ syndrome – reviewing challenges in diagnosis and treatment

Natural killer cell-related prognostic risk model predicts prognosis and treatment outcomes in triple-negative breast cancer

Transition practice for primary immunodeficiency diseases in Southeast Asia: a regional survey

The recombinase activating genes: architects of immune diversity during lymphocyte development

B cell abnormalities and autoantibody production in patients with partial RAG deficiency

Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review

Corrigendum: Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

Editorial: Advances in primary immunodeficiencies (inborn errors of immunity) in Central-Eastern Europe, volume II

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

The Wiskott–Aldrich syndrome protein is required for positive selection during T-cell lineage differentiation