Original Research

Published on 27 Sep 2023

Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study

in Primary Immunodeficiencies

Hirokazu Kanegane
Masataka Ishimura
Toshinao Kawai
Satoshi Okada
Nobuaki Okamatsu
Madoka Go
Shinichi Noto

Frontiers in Immunology

doi 10.3389/fimmu.2023.1244250

2,330 views
2 citations

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

2,498 views
1 citation

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

3,452 views

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

2,783 views
2 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

1,243 views

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

1,443 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

2,000 views

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

1,567 views
1 citation

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

2,638 views
1 citation

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

2,039 views
1 citation

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

1,584 views
2 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

3,771 views
3 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

1,706 views

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

1,926 views
2 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

2,953 views
4 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

7,255 views
3 citations

Navigation group

Articles

Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study

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