Frontiers in Immunology | Primary Immunodeficiencies

Original Research

Published on 28 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

1,505 views

Original Research

Published on 20 Oct 2025

Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort

in Primary Immunodeficiencies

Guadalupe Fernanda Godinez-Zamora
Patricia Baeza-Capetillo
Omar Josué Saucedo-Ramírez
Blanca Estela Del-Río-Navarro
Sara Elva Espinosa-Padilla
Verónica Fabiola Morán-Barroso
Jesus Aguirre-Hernandez

Frontiers in Immunology

doi 10.3389/fimmu.2025.1638544

3,814 views

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

2,545 views

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

12,842 views

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

2,988 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

4,203 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

3,642 views
1 citation

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

3,482 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

4,114 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

2,910 views
1 citation

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

3,482 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

3,427 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

3,612 views

Case Report

Published on 12 Sep 2025

Activated PI3K-δ syndrome presenting with cervical lymphadenopathy in a pediatric patient: a case report and review of the literature

in Primary Immunodeficiencies

Zhiwei Huang
Yaping Wang
Ruoying Wei
Hui Ding
Lian Du
Xiaomei Yang
Fu Li

Frontiers in Immunology

doi 10.3389/fimmu.2025.1622764

3,489 views

Original Research

Published on 12 Sep 2025

Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis

in Primary Immunodeficiencies

Lang Yu
Yulin Li
Liwen Zhang
Wenhui Li
Ming Sun
Yunfei An
Hao Xiong
Peina Jin
Xiaodong Zhao

Frontiers in Immunology

doi 10.3389/fimmu.2025.1653662

3,460 views
1 citation

Original Research

Published on 05 Sep 2025

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency

in Primary Immunodeficiencies

Brahim Belaid
Koon-Wing Chan
Lydia Lamara Mahammed
Daniel Leung
Sara Makhloufi
Fadila Bendaoud
Hassiba Sakhri
Lilya Meriem Berkani
Ines Allam
Fatma Merah

Frontiers in Immunology

doi 10.3389/fimmu.2025.1634146

4,193 views

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

3,259 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

2,669 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

2,568 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

2,357 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

2,381 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

2,841 views
1 citation

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

2,255 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

2,639 views

1,013 articles

articles

Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China

Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort

Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease

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

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

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

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

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

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

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

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

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

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

Activated PI3K-δ syndrome presenting with cervical lymphadenopathy in a pediatric patient: a case report and review of the literature

Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency

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