Frontiers in Immunology | Primary Immunodeficiencies

Case Report

Published on 04 Sep 2025

Case report: anti-IL-6 autoantibodies in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

in Primary Immunodeficiencies

Tiziana Lorenzini
Lars Malmström
Ola Sabet
Samantha Milanesi
Diana Tintor
Severin Walser
Julius Köppen
Maarja Soomann
Mathias Hauri-Hohl
Seraina Prader

Frontiers in Immunology

doi 10.3389/fimmu.2025.1660161

2,874 views
1 citation

Case Report

Published on 02 Sep 2025

Case Report: Hematopoietic stem cell transplantation in an adult patient with X-linked agammaglobulinemia and severe refractory enteropathy

in Primary Immunodeficiencies

Paula Teresa López-León
Marta Dafne Cabañero-Navalon
Victor Garcia-Bustos
Francisco Giner
Héctor Balastegui Martín
Pedro Asensi Cantó
Juan Montoro Gómez
Olga Seguí-Cotano
María Argente Pla
Pedro Moral Moral

Frontiers in Immunology

doi 10.3389/fimmu.2025.1662016

2,303 views

Case Report

Published on 29 Aug 2025

Case Report: X-linked agammaglobulinemia with progressive neurodegeneration from immunological to neurological implications

in Primary Immunodeficiencies

Xiaoyi Chen
Hao Gu
Yurong Piao
Yanli Ma
Yiran Zhao
Huawei Mao
Yuan Wang
Jie Deng

Frontiers in Immunology

doi 10.3389/fimmu.2025.1611748

2,203 views

Opinion

Published on 28 Aug 2025

Opinion: the evolving understanding of polygenic common variable immunodeficiency-like disorders

in Primary Immunodeficiencies

Rohan Ameratunga
Euphemia Yee Leung
Hilary J. Longhurst
Klaus Lehnert
See-Tarn Woon

Frontiers in Immunology

doi 10.3389/fimmu.2025.1618482

2,134 views
1 citation

Original Research

Published on 22 Aug 2025

Prevalence and clinical implications of major and minor ANCAs in Tunisian (North African) patients with systemic lupus erythematosus

in Primary Immunodeficiencies

Zeineb Meddeb
Houssem Abida
Dhouha Krir
Ahlem Ben Hmid
Raja Aouaidia
Cherifa Abdelkéfi
Yosra Nasri
Ines Ben Sghaier
Hayet Kebaier
Samar Samoud

Frontiers in Immunology

doi 10.3389/fimmu.2025.1657670

2,173 views

Case Report

Published on 20 Aug 2025

Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations

in Primary Immunodeficiencies

Melis Yilmaz
Katarina Zmajkovicova
Rahim Z. Miller
Grace Blair
Maryssa Ellison
Boglarka Ujhazi
Maria Chitty Lopez
Joseph F. Dasso
Jacob R. Bledsoe
Krisztian Csomos

Frontiers in Immunology

doi 10.3389/fimmu.2025.1641122

2,571 views

Original Research

Published on 18 Aug 2025

Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia

in Primary Immunodeficiencies

Linyan Xiong
Qin Zhao
Qian Zhao
Zhiyong Zhang
Yunfei An
Xuemei Tang
Hirokazu Kanegane
Xi Yang
Xiaodong Zhao

Frontiers in Immunology

doi 10.3389/fimmu.2025.1628507

1,966 views

Original Research

Published on 18 Aug 2025

Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing

in Primary Immunodeficiencies

Amy P. Hsu
Eric Karlins
Justin Lack
T. Joseph Pepper
Karen Lau
Kimberly R. Marshall-Batty
Debra Long Priel
Joie Davis
Danielle L. Fink
Christa S. Zerbe

Frontiers in Immunology

doi 10.3389/fimmu.2025.1640496

2,309 views

Case Report

Published on 15 Aug 2025

Fatal X-linked agammaglobulinemia complicated by septic shock: a case report and comprehensive review of novel BTK mutations

in Primary Immunodeficiencies

Piaopiao Wu
Wei You
Wentong Liu
Ni Luo
Jiayue Xu

Frontiers in Immunology

doi 10.3389/fimmu.2025.1645337

2,409 views

Original Research

Published on 14 Aug 2025

High prevalence of the hotspot complement factor I p.Ile357Met 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
Ikram Mami
Abir Boussetta
Hend Jlajla
Yousr Zerzeri
Haifa Arbi Sassi
Jamila Ben Sassi
Hela Sahli

Frontiers in Immunology

doi 10.3389/fimmu.2025.1623432

2,035 views

Original Research

Published on 13 Aug 2025

A Norwegian cohort with STAT1-related disease – further expanding the clinical phenotype

in Primary Immunodeficiencies

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

Frontiers in Immunology

doi 10.3389/fimmu.2025.1620291

2,258 views

Correction

Published on 07 Aug 2025

Correction: 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.2025.1666329

868 views
1 citation

Original Research

Published on 06 Aug 2025

Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis

in Primary Immunodeficiencies

Peiwei Zhao
Kailan Chen
Li Yang
Chunhui Wan
Lei Zhang
Sukun Luo
Xuelian He

Frontiers in Immunology

doi 10.3389/fimmu.2025.1605221

2,514 views
1 citation

Case Report

Published on 31 Jul 2025

Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis

in Primary Immunodeficiencies

Miko Morimoto
Takuro Nishikawa
Atsushi Hijikata
Hiroshi Kasabata
Nobuhisa Maeda
Shuji Kanmura
Shogo Horikawa
Jun Nagahama
Aki Nakamura
Tatsuro Nakamura

Frontiers in Immunology

doi 10.3389/fimmu.2025.1644552

2,496 views
1 citation

Brief Research Report

Published on 31 Jul 2025

New insights into Wiskott-Aldrich syndrome: ten novel WAS mutations and their clinical impact in a Brazilian cohort

in Primary Immunodeficiencies

Lucas W. Santos
Samuel S. Medina
Jéssica O. Frade-Guanaes
Lúcia H. Siqueira
Luiz Gustavo R. de Lima
Bruna Chati
Marcos T. Nolasco da Silva
Adriana G. L. Riccetto
Paula Lyra
Ana Carla A. M. Falcão

Frontiers in Immunology

doi 10.3389/fimmu.2025.1585594

2,497 views

Case Report

Published on 25 Jul 2025

Case Report: Heterozygous out-of-frame frameshift variant in ELANE without evidence of neutropenia

in Primary Immunodeficiencies

Yulin Li
Lang Yu
Yishi Zhang
Liwen Zhang
Lina Zhou
Xuemei Tang
Xiaodong Zhao

Frontiers in Immunology

doi 10.3389/fimmu.2025.1617868

2,217 views

Original Research

Published on 23 Jul 2025

Real-world patterns of immunoglobulin replacement therapy for infection prevention in common variable immunodeficiency: a multicenter nationwide study

in Primary Immunodeficiencies

Pedro Moral Moral
Victor Garcia-Bustos
Héctor Balastegui-Martin
Sandra Martínez Mercader
Carmen Bracke
Lourdes Mateu
Xavier Solanich
Arnau Antolí
Juan Luis Carrillo-Linares
Ángel Robles-Marhuenda

Frontiers in Immunology

doi 10.3389/fimmu.2025.1640290

2,825 views
1 citation

Original Research

Published on 22 Jul 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 by the rapid push method

in Primary Immunodeficiencies

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

Frontiers in Immunology

doi 10.3389/fimmu.2025.1598491

2,871 views

Case Report

Published on 18 Jul 2025

Uncovering hidden immune defects in childhood granulomatous disorders: a case report

in Primary Immunodeficiencies

Walter Maria Sarli
Francesca Quaranta
Clementina Canessa
Lorenzo Lodi
Laura Pisano
Anna Maria Buccoliero
Teresa Oranges
Elena Sieni
Gabriele Simonini
Luca Bartolini

Frontiers in Immunology

doi 10.3389/fimmu.2025.1634661

2,020 views

Correction

Published on 15 Jul 2025

Correction: 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.2025.1659197

1,192 views

Review

Published on 10 Jul 2025

New tools for diagnosis of primary immunodeficiencies: from awareness to artificial intelligence

in Primary Immunodeficiencies

Pere Soler-Palacín
Jacques G. Rivière
Siobhán O. Burns
Nicholas L. Rider

Frontiers in Immunology

doi 10.3389/fimmu.2025.1593897

4,825 views

Original Research

Published on 09 Jul 2025

Clinical, immunological, and genetic landscape of common variable immunodeficiency in Morocco: a nationwide multicenter study

in Primary Immunodeficiencies

Abire Allaoui
Abderrahmane Moundir
Ibtihal Benhsaien
Fatima Ailal
Jalila El Bakkouri
Khadija Echchilali
Abdelhamid Naitlho
Hassan El Kabli
Ahmed Aziz Bousfiha
Mina Moudatir

Frontiers in Immunology

doi 10.3389/fimmu.2025.1602820

3,091 views
1 citation

Case Report

Published on 08 Jul 2025

Case Report: 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

1,563 views

Original Research

Published on 07 Jul 2025

Cardiofaciocutaneous syndrome 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

3,533 views
2 citations

997 articles

articles

Case report: anti-IL-6 autoantibodies in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Case Report: Hematopoietic stem cell transplantation in an adult patient with X-linked agammaglobulinemia and severe refractory enteropathy

Case Report: X-linked agammaglobulinemia with progressive neurodegeneration from immunological to neurological implications

Opinion: the evolving understanding of polygenic common variable immunodeficiency-like disorders

Prevalence and clinical implications of major and minor ANCAs in Tunisian (North African) patients with systemic lupus erythematosus

Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations

Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia

Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing

Fatal X-linked agammaglobulinemia complicated by septic shock: a case report and comprehensive review of novel BTK mutations

High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature

A Norwegian cohort with STAT1-related disease – further expanding the clinical phenotype

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

Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis

Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis

New insights into Wiskott-Aldrich syndrome: ten novel WAS mutations and their clinical impact in a Brazilian cohort

Case Report: Heterozygous out-of-frame frameshift variant in ELANE without evidence of neutropenia

Real-world patterns of immunoglobulin replacement therapy for infection prevention in common variable immunodeficiency: a multicenter nationwide study

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 by the rapid push method

Uncovering hidden immune defects in childhood granulomatous disorders: a case report

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

New tools for diagnosis of primary immunodeficiencies: from awareness to artificial intelligence

Clinical, immunological, and genetic landscape of common variable immunodeficiency in Morocco: a nationwide multicenter study

Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort