Frontiers in Immunology | Primary Immunodeficiencies

Original Research

Published on 07 Jul 2025

Description and phenotype of a novel C5 gene mutation and a novel combination: family report and literature review

in Primary Immunodeficiencies

Asier Lizama-Muñoz
Juan Francisco Gutiérrez-Bautista
Monica Bernal
Miguel Ángel López-Nevot

Frontiers in Immunology

doi 10.3389/fimmu.2025.1605903

2,918 views

Mini Review

Published on 23 Jun 2025

From syndromic clues to diagnosis: understanding CARD11-driven disorders

in Primary Immunodeficiencies

Elena García-Martínez
María Teresa Schiaffino
Marisa Di Natale
María de las Mercedes Díaz Luna
Daniel Alejandro Viteri Álvarez
María Alejandra Mejía González

Frontiers in Immunology

doi 10.3389/fimmu.2025.1626065

2,921 views

Original Research

Published on 17 Jun 2025

Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years

in Primary Immunodeficiencies

Lúcia Mamede
Roser Cantenys Sabà
Samya Van Coillie
Johan Prévot
Silvia Sánchez-Ramón
Cecilia Poli
Anne Barasa
Björn W. Schuller
Ayal Hendel
Nicolas Garcelon

Frontiers in Immunology

doi 10.3389/fimmu.2025.1596971

4,042 views

Review

Published on 12 Jun 2025

X-linked lymphoproliferative disease type 1: a clinical and genetic update

in Primary Immunodeficiencies

Jiaxun Li
Luyu Lv
Qingqing Wei
Wenpeng Pang
Chunjuan He
Hao Wu
Liping Guo

Frontiers in Immunology

doi 10.3389/fimmu.2025.1620327

4,047 views

Original Research

Published on 05 Jun 2025

A survey of diagnosis and therapy of inborn errors of immunity among practice-based physicians and clinic-based pneumologists and hemato-oncologists

in Primary Immunodeficiencies

Thomas Lehrnbecher
Alexandra Russo
Gernot Rohde

Frontiers in Immunology

doi 10.3389/fimmu.2025.1597635

2,427 views
2 citations

Original Research

Published on 02 Jun 2025

Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management

in Primary Immunodeficiencies

Nourhen Agrebi
Rafah Mackeh
Mohamed Alsabbagh
Asha Elmi
Amnah A. Al-Marri
Satanay Z. Hubrack
Saleema C. Purayil
Mohammed Yousuf Karim
Amel Hassan
Bernice Lo

Frontiers in Immunology

doi 10.3389/fimmu.2025.1594636

2,422 views

Case Report

Published on 30 May 2025

Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection

in Primary Immunodeficiencies

Jiaxun Li
Dongcan Mo
Luyu Lv
Fuling Huang
Binyan Wu
Chunjuan He
Hao Wu
Wenpeng Pang
Yan Li
Liping Guo

Frontiers in Immunology

doi 10.3389/fimmu.2025.1580909

2,656 views
1 citation

Original Research

Published on 27 May 2025

Expansion of CD57+ CD8 T cells in common variable immunodeficiency with hepatopathy and CMV infection

in Primary Immunodeficiencies

Patrick Bez
Enrico Santangeli
Sigune Goldacker
Ulrich Salzer
Klaus Warnatz

Frontiers in Immunology

doi 10.3389/fimmu.2025.1577934

2,429 views
1 citation

Case Report

Published on 26 May 2025

Case Report: Biliary hemorrhage by intrahepatic pseudoaneurysm and asymptomatic right coronary artery pseudoaneurysm in a patient with STAT3 hyper IgE syndrome

in Primary Immunodeficiencies

Daiki Fujita
Masahiro Ueki
Hiroshi Yamanaka
Kota Watanabe
Satoshi Yakuwa
Atsushi Manabe
Masafumi Yamada

Frontiers in Immunology

doi 10.3389/fimmu.2025.1601776

1,972 views

Case Report

Published on 19 May 2025

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report

in Primary Immunodeficiencies

Oksana Boyarchuk
Alla Volokha
Nataliia Yarema
Olga Dyvoniak
Tetyana Tomashivska
Ivanna Shymanska
Halyna Makukh
Jolan E. Walter

Frontiers in Immunology

doi 10.3389/fimmu.2025.1602107

2,988 views
1 citation

Mini Review

Published on 19 May 2025

The clinical and socioeconomic aspects of t-cell receptor excision circle based newborn screening for severe combined immunodeficiency in Southeast and East Asia

in Primary Immunodeficiencies

Noelle Yoo
Seongjin Kim
Jane Kim
Jong Gyun Ahn
Insoo Kang
Junghee J. Shin

Frontiers in Immunology

doi 10.3389/fimmu.2025.1549768

3,332 views
2 citations

Original Research

Published on 15 May 2025

Granulomatous lymphocytic interstitial lung disease in common variable immune deficiency: an in-depth clinical, immunological, functional and radiological exploration with a focus on its management, challenged by chronic CMV infection

in Primary Immunodeficiencies

Mattia Moratti
Gioacchino Schifino
Francesco Baccelli
Simona Ferrari
Elisabetta Magrini
Mirna Bassi
Aldo Guerrieri
Maurizio Zompatori
Marcello Lanari
Francesca Conti

Frontiers in Immunology

doi 10.3389/fimmu.2025.1589052

4,327 views
1 citation

Original Research

Published on 14 May 2025

Real-world evidence of the effectiveness and utilization of subcutaneous C1INH long-term prophylaxis in patients with HAE in Spain and Germany

in Primary Immunodeficiencies

Marcus Maurer
Stefan Cimbollek
Maebh Kelly
Kyle Rodney
John Elliott
Eduardo LoboGuerrero
Markus Magerl

Frontiers in Immunology

doi 10.3389/fimmu.2025.1576235

3,123 views

Original Research

Published on 09 May 2025

The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia

in Primary Immunodeficiencies

Amal Aldhaheri
Ohoud Alyabes
Suliman Aljumaah
Raghad Alhuthil
Raghad Alonazi
Shefa Alamoudi
Mohammed Alsuhaibani
Salem Alghamdi
Esam A. Albanyan
Sami Al-Hajjar

Frontiers in Immunology

doi 10.3389/fimmu.2025.1596963

5,106 views
5 citations

Case Report

Published on 08 May 2025

EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review

in Primary Immunodeficiencies

Qiu-yuan Xiang
Min Zuo
Ji-Hao Zhou
Chun Feng

Frontiers in Immunology

doi 10.3389/fimmu.2025.1583405

3,254 views
1 citation

Case Report

Published on 05 May 2025

Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome

in Primary Immunodeficiencies

Takuro Nishikawa
Dan Tomomasa
Atsushi Hijikata
Hiroshi Kasabata
Yasuhiro Okamoto
Hans D. Ochs
Hirokazu Kanegane

Frontiers in Immunology

doi 10.3389/fimmu.2025.1572791

2,254 views

Case Report

Published on 30 Apr 2025

Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry

in Primary Immunodeficiencies

Maria Pia Esposto
Nizar Mahlaoui
Hassan Abolhassani
Koen Van Aerde
Simone Cesaro
Anita Chandra
Stephan Ehl
Sven Kracker
Felipe Suarez
Vincent Barlogis

Frontiers in Immunology

doi 10.3389/fimmu.2025.1572194

2,832 views
1 citation

Original Research

Published on 17 Apr 2025

Reappraisal of IgG subclass deficiencies: a retrospective comparative cohort study

in Primary Immunodeficiencies

Damla Dogru
Yagmur Dogru
Faranaz Atschekzei
Abdulwahab Elsayed
Natalia Dubrowinskaja
Diana Ernst
Torsten Witte
Vega Gödecke
Georgios Sogkas

Frontiers in Immunology

doi 10.3389/fimmu.2025.1552513

3,703 views
1 citation

Brief Research Report

Published on 28 Mar 2025

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach

in Primary Immunodeficiencies

Marija Rozevska
Katrina Daila Neiburga-Vigante
Inga Nartisa
Zane Lucane
Lota Ozola
Livija Bardina
Inta Jaunalksne
Natalija Gerula
Petra Krike
Gita Taurina

Frontiers in Immunology

doi 10.3389/fimmu.2025.1510365

4,077 views

Case Report

Published on 21 Mar 2025

Case Report: Hydroa vacciniforme-like lymphoproliferative disorder, an EBV-associated disease, successfully treated with hematopoietic stem cell transplantation

in Primary Immunodeficiencies

Eduardo Liquidano-Perez
Gibert Maza-Ramos
Marco Yamazaki-Nakashimada
Rodolfo Rodríguez-Jurado
Alfonso G. Ramírez Ristori
Juan Carlos Bustamante-Ogando
Mario Ernesto Cruz-Munoz
Arturo Gutierrez-Guerrero
Marimar Saez-de-Ocariz
Sara Espinosa-Padilla

Frontiers in Immunology

doi 10.3389/fimmu.2025.1511385

3,717 views

Mini Review

Published on 20 Mar 2025

Patient-reported outcomes with subcutaneous immunoglobulin in secondary immunodeficiency

in Primary Immunodeficiencies

Juthaporn Cowan
Il-Kang Na
André Gladiator
Marta Kamieniak
S. Shahzad Mustafa

Frontiers in Immunology

doi 10.3389/fimmu.2025.1528414

5,299 views
1 citation

Case Report

Published on 18 Mar 2025

Case Report: Infection with Streptococcus constellatus manifesting as gelatinous pleural effusion in an HIV-positive patient

in Primary Immunodeficiencies

Zhongxia Yang
Wanyuan Xiong
Zibing Qian
Xiaorong Mao

Frontiers in Immunology

doi 10.3389/fimmu.2025.1545165

1,797 views
1 citation

Review

Published on 07 Mar 2025

Multidisciplinary approach to treating complex immune dysregulation disorders: an adaptive model for institutional implementation

in Primary Immunodeficiencies

Lauren A. Henderson
Roshini S. Abraham
Aisha Ahmed
Lindsey Blount
Scott W. Canna
Natalia S. Chaimowitz
Shanmuganathan Chandrakasan
Bria Coates
James A. Connelly
Megan A. Cooper

Frontiers in Immunology

doi 10.3389/fimmu.2025.1519955

4,327 views
2 citations

Case Report

Published on 07 Mar 2025

Case Report: A novel IKBKB variant (c.1705G>T) is associated with immune dysregulation and disseminated tuberculosis

in Primary Immunodeficiencies

Gabriel Emmanuel Arce-Estrada
Miguel Rodríguez-Morales
Selma Cecilia Scheffler-Mendoza
Marimar Sáez-de-Ocariz
Laura Berrón-Ruiz
Sara Elva Espinosa-Padilla
Francisco Alberto Contreras-Verduzco

Frontiers in Immunology

doi 10.3389/fimmu.2025.1541899

2,341 views
2 citations

997 articles

articles

Description and phenotype of a novel C5 gene mutation and a novel combination: family report and literature review

From syndromic clues to diagnosis: understanding CARD11-driven disorders

Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years

X-linked lymphoproliferative disease type 1: a clinical and genetic update

A survey of diagnosis and therapy of inborn errors of immunity among practice-based physicians and clinic-based pneumologists and hemato-oncologists

Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management

Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection

Expansion of CD57+ CD8 T cells in common variable immunodeficiency with hepatopathy and CMV infection

Case Report: Biliary hemorrhage by intrahepatic pseudoaneurysm and asymptomatic right coronary artery pseudoaneurysm in a patient with STAT3 hyper IgE syndrome

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report

The clinical and socioeconomic aspects of t-cell receptor excision circle based newborn screening for severe combined immunodeficiency in Southeast and East Asia

Granulomatous lymphocytic interstitial lung disease in common variable immune deficiency: an in-depth clinical, immunological, functional and radiological exploration with a focus on its management, challenged by chronic CMV infection

Real-world evidence of the effectiveness and utilization of subcutaneous C1INH long-term prophylaxis in patients with HAE in Spain and Germany

The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia

EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review

Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome

Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry

Reappraisal of IgG subclass deficiencies: a retrospective comparative cohort study

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach

Case Report: Hydroa vacciniforme-like lymphoproliferative disorder, an EBV-associated disease, successfully treated with hematopoietic stem cell transplantation

Patient-reported outcomes with subcutaneous immunoglobulin in secondary immunodeficiency

Case Report: Infection with Streptococcus constellatus manifesting as gelatinous pleural effusion in an HIV-positive patient

Multidisciplinary approach to treating complex immune dysregulation disorders: an adaptive model for institutional implementation

Case Report: A novel IKBKB variant (c.1705G>T) is associated with immune dysregulation and disseminated tuberculosis