Frontiers in Immunology | Primary Immunodeficiencies

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

2,102 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

3,259 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

3,688 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

5,038 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

3,467 views
2 citations

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

5,676 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

3,729 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

2,508 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

3,042 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

4,176 views
3 citations

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

4,491 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

4,159 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

5,853 views
2 citations

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

1,952 views
1 citation

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

2,526 views
2 citations

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

4,720 views
2 citations

Case Report

Published on 28 Feb 2025

Case Report: Hypomorphic Ligase 4 deficiency – a paradigm of immunodysregulation

in Primary Immunodeficiencies

Catarina Andrade
Ana Isabel Cordeiro
Marta Valente Pinto
Conceição Neves
Catarina Martins
Jean-Pierre Villartay
João Farela Neves

Frontiers in Immunology

doi 10.3389/fimmu.2025.1545630

2,961 views
1 citation

Case Report

Published on 27 Feb 2025

Case report and literature review: clinical manifestations and treatment of human RelA deficiency

in Primary Immunodeficiencies

Chenghao Wang
Wenjie Wang
Xiaoying Hui
Jia Hou
Qinhua Zhou
Qifan Li
Qi Wu
Qi Ni
Bingbing Wu
Jinqiao Sun

Frontiers in Immunology

doi 10.3389/fimmu.2025.1529654

5,381 views
4 citations

Original Research

Published on 21 Feb 2025

Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome

in Primary Immunodeficiencies

Tamar Rubin
Stéphane Bernier
Lily Siok Hoon Lim
Michael S. Salman
Edward Leung
Aziz Mhanni
Sandra Marles
Cheryl Greenberg
Anna Perez
Yichun Sun

Frontiers in Immunology

doi 10.3389/fimmu.2025.1557632

4,052 views
1 citation

Editorial

Published on 19 Feb 2025

Editorial: Community series in primary immunodeficiencies worldwide, volume II

in Primary Immunodeficiencies

Antonio Condino-Neto
Anne-Sophie Korganow
Hirokazu Kanegane

Frontiers in Immunology

doi 10.3389/fimmu.2025.1564959

1,402 views

Review

Published on 18 Feb 2025

The genetics of hyper IgE syndromes

in Primary Immunodeficiencies

Randa AlYafie
Dinesh Velayutham
Nicholas van Panhuys
Puthen Veettil Jithesh

Frontiers in Immunology

doi 10.3389/fimmu.2025.1516068

10,972 views
11 citations

Original Research

Published on 14 Feb 2025

Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia

in Primary Immunodeficiencies

Robert Sertori
Billy Truong
Manoj K. Singh
Susan Shinton
Rachael Price
Andrew Sharo
Paulameena Shultes
Uma Sunderam
Sadhna Rana
Rajgopal Srinivasan

Frontiers in Immunology

doi 10.3389/fimmu.2025.1539848

2,523 views

Original Research

Published on 14 Feb 2025

Patient-centered outcomes with subcutaneous immunoglobulin use for infection control in primary and secondary immunodeficiencies: data of a GEIE Spanish Registry

in Primary Immunodeficiencies

Sandra Martínez Mercader
Victor Garcia-Bustos
Pedro Moral Moral
Carmen Martínez Buenaventura
Elisa Escudero Vergara
María Carmen Montaner Bosch
Héctor Balastegui-Martín
Sonia Galindo Maycas
Berta Palací Mur
Marian Escobar Palazón

Frontiers in Immunology

doi 10.3389/fimmu.2025.1532367

4,245 views
2 citations

Original Research

Published on 12 Feb 2025

CD21low B cells reveal a unique glycosylation pattern with hypersialylation and hyperfucosylation

in Primary Immunodeficiencies

Peter Tobias Felixberger
Geoffroy Andrieux
Andrea Maul-Pavicic
Sigune Goldacker
Ina Harder
Sylvia Gutenberger
Jonathan J. M. Landry
Vladimir Benes
Till Fabian Jakob
Melanie Boerries

Frontiers in Immunology

doi 10.3389/fimmu.2025.1512279

3,356 views

1,013 articles

articles

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

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

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

Case Report: Hypomorphic Ligase 4 deficiency – a paradigm of immunodysregulation

Case report and literature review: clinical manifestations and treatment of human RelA deficiency

Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome

Editorial: Community series in primary immunodeficiencies worldwide, volume II

The genetics of hyper IgE syndromes

Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia

Patient-centered outcomes with subcutaneous immunoglobulin use for infection control in primary and secondary immunodeficiencies: data of a GEIE Spanish Registry

CD21low B cells reveal a unique glycosylation pattern with hypersialylation and hyperfucosylation