Frontiers in Immunology | Primary Immunodeficiencies

Case Report

Accepted on 16 Oct 2025

Novel IRF2BP2 Variant in a Japanese Patient with Impaired B-Cell Differentiation, Th1 Polarization, and Systemic Immune Dysregulation

in Primary Immunodeficiencies

Yushiro Endo
Tomohiro Koga
Shota Kurushima
Hiroyuki Mishima
Koh-ichiro Yoshiura
Tadashi Matsumoto
Atsushi Kawakami

Frontiers in Immunology

doi 10.3389/fimmu.2025.1662899

Brief Research Report

Published on 16 Oct 2025

Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease

in Primary Immunodeficiencies

Jinyun Zou
Tahereh Noori
Mark Walterfang
Jeff Szer
Joseph A. Trapani
Ilia Voskoboinik

Frontiers in Immunology

doi 10.3389/fimmu.2025.1680520

1,125 views

Case Report

Accepted on 15 Oct 2025

Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunization

in Primary Immunodeficiencies

Samuel CC Chiang
Erika Owsley
Nagako Akeno
Cristina Cobb
Li Yang
Rebecca Marsh
Kenneth Myers
Tamar Sarah Rubin

Frontiers in Immunology

doi 10.3389/fimmu.2025.1654617

103 views

Original Research

Accepted on 13 Oct 2025

Genotypic and Phenotypic Characterization of Rare Globin Variants in Northern Guangxi, China

in Primary Immunodeficiencies

Wei-Jia Yang
Qing-Ping Kang
Li-Ming Liang
Qian Zhou
Xiao-Min Gong
Min Dou
Cui-Juan Huang
Ying Lin

Frontiers in Immunology

doi 10.3389/fimmu.2025.1695120

Systematic Review

Published on 10 Oct 2025

Allergic manifestations in inborn errors of immunity: a systematic scoping review

in Primary Immunodeficiencies

Lars Marbet
Esther Gujer
Marlene H. Münger
Michael P. Killian
Andrea A. Mauracher
Maarja Soomann
Johannes Trück
Jana Pachlopnik Schmid

Frontiers in Immunology

doi 10.3389/fimmu.2025.1666600

11,031 views

Case Report

Accepted on 07 Oct 2025

GATA2 deficiency in adult with alveolar proteinosis, infections, lymphadenopathy with granulomatosis, and immune deficiency (Case report)

in Primary Immunodeficiencies

Juliana Gabzdilova
Štefan Raffáč

Frontiers in Immunology

doi 10.3389/fimmu.2025.1608392

Original Research

Published on 07 Oct 2025

Clinical and immunological spectrum of MHC class I deficiency: insights from a long-term cohort with two novel mutations

in Primary Immunodeficiencies

Sule Haskologlu
Aydan Ikinciogullari
Candan Islamoglu
Sevgi Kostel Bal
Deniz Bayrakoglu
Serife Erdem
Zeynep Ceren Karahan
Omur Ardeniz
Caner Aytekin
Aylin Heper

Frontiers in Immunology

doi 10.3389/fimmu.2025.1675097

1,244 views

Case Report

Published on 06 Oct 2025

Case Report: Novel IL10RB variant causing very early onset-inflammatory bowel disease

in Primary Immunodeficiencies

Yusuf Usman
Christopher P. Ptak
Valeria C. Cohran
Brian E. Nolan
Aisha Ahmed
Aaruni Khanolkar

Frontiers in Immunology

doi 10.3389/fimmu.2025.1655475

2,202 views

Case Report

Published on 03 Oct 2025

Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype

in Primary Immunodeficiencies

Roukaya Yaakoubi
Najla Mekki
Amel Ben Chehida
Ansem Benhammadi
Koon-Wing Chan
Daniel Leung
Charfeddine Gharsallah
Fatma Zahra Guerfali
Mohamed-Ridha Barbouche
Yu Lung Lau

Frontiers in Immunology

doi 10.3389/fimmu.2025.1646761

1,897 views

Original Research

Accepted on 02 Oct 2025

The Unveiled Face of IEI: Children Cancer Hospital Egypt (CCHE-57357) Experience

in Primary Immunodeficiencies

NESRINE RADWAN
Youssef Medany
Hanaa Rashad
Ahmed Elhemaly
Mahmoud Hammad
Hany Abdel Rahman
Mona Fakhry
Nora Mahmmoud Marouf
Ahmed Mahdy
Mariam Elsherif

Frontiers in Immunology

doi 10.3389/fimmu.2025.1570328

261 views

Original Research

Published on 02 Oct 2025

Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges

in Primary Immunodeficiencies

Sibel Kaplan Sarıkavak
Özge Türkyılmaz Uçar
Burcu Cil
Michael S. Hershfield
Teresa K. Tarrant
Pinar Gökmirza
Çiğdem Aydoğmus

Frontiers in Immunology

doi 10.3389/fimmu.2025.1639318

2,000 views

Case Report

Published on 01 Oct 2025

Case Report: Novel UNC93B1 variant causes rheumatoid arthritis and interstitial pneumonia

in Primary Immunodeficiencies

Tingyan He
Junbin Ou
Lijuan Huang
Xinyi Zhou
Linlin Wang
Xiaolin Li
Jun Yang

Frontiers in Immunology

doi 10.3389/fimmu.2025.1671984

2,253 views

Original Research

Published on 30 Sep 2025

Impact of CMV latency on T-cell responses to COVID-19 vaccination among predominantly antibody-deficient patients

in Primary Immunodeficiencies

Trinidad Alba-Cano
Roberto Alonso
Héctor Balastegui-Martín
Luz Yadira Bravo-Gallego
Paloma Sánchez-Mateos
Mónica Martín-López
Juana Gil-Herrera

Frontiers in Immunology

doi 10.3389/fimmu.2025.1659259

2,022 views

Original Research

Published on 25 Sep 2025

Clinical, immunological, molecular characteristics and outcomes of stem cell transplantation in ZAP70 deficiency: a single-center experience

in Primary Immunodeficiencies

Fai AlQahtani
Azhar Al Shaqaq
Bandar Al-Saud
Nora AlRumayyan
Reem Mohammed
Rand Arnaout
Sahar Elshorbagi
Sultan Albuhairi
Ali Al-Ahmari
Mouhab Ayas

Frontiers in Immunology

doi 10.3389/fimmu.2025.1656240

2,519 views

Brief Research Report

Published on 16 Sep 2025

Immunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells

in Primary Immunodeficiencies

Firas Bouzakoura
Najla Mekki
Monia Ben Khaled
Ines Maaloul
Aicha Ben Taieb
Amal Zammeli
Meriem Ben-Ali
Mariem Tira
Ansem Ben-Hammadi
Thouraya Kamoun

Frontiers in Immunology

doi 10.3389/fimmu.2025.1602942

2,582 views

Original Research

Published on 15 Sep 2025

First report from the Czech national registry of inborn errors of immunity (2012–2025)

in Primary Immunodeficiencies

Zita Chovancova
Eva Hlavackova
Roman Hakl
Tomas Milota
Pavlina Kralickova
Ivana Malkusova
Beata Hutyrova
Michaela Safarova
Jana Vydlakova
Dalibor Jilek

Frontiers in Immunology

doi 10.3389/fimmu.2025.1653685

2,432 views