Frontiers in Immunology | Primary Immunodeficiencies

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

715 views

Original Research

Accepted on 13 Jun 2025

High prevalence of the hotspot complement factor I p.Ileu357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature

in Primary Immunodeficiencies

Asma Tajouri
Imen Ayadi
Rimeh BenBrahim
Hend Jlajla
Yousr Zerzeri
Haifa Arbi Sassi
Jamila Ben Sassi
Hela Sahli
Lilia Laadhar
Maryam Kallel Sellami

Frontiers in Immunology

doi 10.3389/fimmu.2025.1623432

331 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

408 views

Original Research

Accepted on 11 Jun 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 Angel López-Nevot

Frontiers in Immunology

doi 10.3389/fimmu.2025.1605903

290 views

Original Research

Accepted on 11 Jun 2025

Cardiofaciocutaneous Syndrome (CFCS) and Immunodeficiency: Data From an International Multicenter Cohort

in Primary Immunodeficiencies

Benedetta Elena Di Majo
Chiara Leoni
Eleonora Cartisano
Chiara Fossati
Germana Viscogliosi
Valentina Trevisan
Lucia Pia Bruno
Francesca Conti
Mattia Moratti
Emilia Monaco

Frontiers in Immunology

doi 10.3389/fimmu.2025.1598896

217 views

Mini Review

Accepted on 09 Jun 2025

From Syndromic Clues to Diagnosis: Understanding CARD11-Driven Disorders

in Primary Immunodeficiencies

Elena García-Martínez
Mª Teresa Schiaffino Gª-Villanova
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

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

866 views

Original Research

Accepted on 02 Jun 2025

Рrospective multicenter study of treatment efficacy, safety, and quality of life in a large cohort of patients with inborn errors of immunity receiving subcutaneous immunoglobulin

in Primary Immunodeficiencies

Asmik Avedova
Elena Deripapa
Yulia Rodina
Anna A Mukhina
Elena LATYSHEVA
Daria Yukhacheva
Vasily Burlakov
Nellie Kan
Daria Bogdanova
Anna Moiseeva

Frontiers in Immunology

doi 10.3389/fimmu.2025.1598491

198 views

Original Research

Accepted on 02 Jun 2025

A Norwegian cohort with STAT1-related diseasefurther expanding the clinical phenotype

in Primary Immunodeficiencies

Karen Helene Bronken Martinsen
Torstein Øverland
Asbjørg Stray-Pedersen
Tore Gunnar Abrahamsen
Børre Fevang
Hans Christian Erichsen Landsverk

Frontiers in Immunology

doi 10.3389/fimmu.2025.1620291

120 views

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

879 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

722 views

Case Report

Accepted on 28 May 2025

Preserved umbilical cords underscore family histories of inborn errors of immunity

in Primary Immunodeficiencies

Madoka Nishimura
Dan Tomomasa
Rika Suzuki
Futaba Miyaoka
Hirokazu Kanegane

Frontiers in Immunology

doi 10.3389/fimmu.2025.1605857

180 views

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

756 views

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

686 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

1,348 views

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

1,045 views