Frontiers in Immunology | Primary Immunodeficiencies

Case Report

Published on 13 Nov 2025

GATA2 deficiency in an adult with alveolar proteinosis, infections, lymphadenopathy with granulomatosis, and immune deficiency: case report

in Primary Immunodeficiencies

Juliana Gabzdilová
Štefan Raffáč
Gabriela Krasňanská
Michal Konečný

Frontiers in Immunology

doi 10.3389/fimmu.2025.1608392

1,257 views

Case Report

Published on 10 Nov 2025

Case Report: A simple case of drug-induced secondary antibody deficiency or a rare primary immune deficiency?

in Primary Immunodeficiencies

Sarah L. Johnston
Julie C. Evans
Ian R. Berry
Oliver T. Watkinson

Frontiers in Immunology

doi 10.3389/fimmu.2025.1629876

994 views

Original Research

Published on 07 Nov 2025

Long-term outcome of bone marrow transplantation in NIK deficiency: non-redundant role of non-canonical NF-κB signaling in thymic reconstitution and secondary lymphoid organ development

in Primary Immunodeficiencies

Sevgi Köstel Bal
Şule Haskoloğlu
Bernhard Ransmayr
Selin Sevinç
Candan İslamoğlu
Kübra Baskın
Nazlı Deveci
Berna Savaş
Suat Fitoz
Alphan Küpesiz

Frontiers in Immunology

doi 10.3389/fimmu.2025.1682642

1,786 views

Original Research

Published on 03 Nov 2025

Is there an alternative to the indirect immunofluorescence ANA HEp-2 assay for the diagnosis of connective tissue diseases?

in Primary Immunodeficiencies

Tamazouzt Hadjout
Lydia Lamara Mahammed
Meriem Saad
Amel Zemmour
Nadia Tamechmacht
Ghalya Bousbia
Halima Ismail
Nawel Dahmani
Ines Allam
Reda Djidjik

Frontiers in Immunology

doi 10.3389/fimmu.2025.1669124

1,143 views

Case Report

Accepted on 30 Oct 2025

Case report: Novel CYBB missense mutation causing X-linked chronic granulomatous disease in a boy with recurrent pneumonia and testicular abscesses misdiagnosed as tuberculosis

in Primary Immunodeficiencies

Weiqi Jiang
Ping Ren
Tian Tian

Frontiers in Immunology

205 views

Original Research

Published on 30 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

1,440 views

Case Report

Published on 30 Oct 2025

Case Report: 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
Takuya Tomokawa
Hiroyuki Mishima
Koh-ichiro Yoshiura
Tadashi Matsumoto
Atsushi Kawakami

Frontiers in Immunology

doi 10.3389/fimmu.2025.1662899

1,152 views

Case Report

Published on 28 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 C. C. Chiang
Erika Owsley
Ammar Husami
Nagako Akeno
Cristina M. Cobb
Li Yang
Rebecca A. Marsh
Kenneth A. Myers
Tamar S. Rubin

Frontiers in Immunology

doi 10.3389/fimmu.2025.1654617

1,456 views

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

1,216 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

3,496 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

2,317 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

12,431 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

2,534 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

3,737 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

3,291 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

3,158 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

3,723 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

2,707 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

3,215 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

3,190 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

3,300 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

3,199 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

3,161 views

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

3,851 views

997 articles

articles

GATA2 deficiency in an adult with alveolar proteinosis, infections, lymphadenopathy with granulomatosis, and immune deficiency: case report

Case Report: A simple case of drug-induced secondary antibody deficiency or a rare primary immune deficiency?

Long-term outcome of bone marrow transplantation in NIK deficiency: non-redundant role of non-canonical NF-κB signaling in thymic reconstitution and secondary lymphoid organ development

Is there an alternative to the indirect immunofluorescence ANA HEp-2 assay for the diagnosis of connective tissue diseases?

Case report: Novel CYBB missense mutation causing X-linked chronic granulomatous disease in a boy with recurrent pneumonia and testicular abscesses misdiagnosed as tuberculosis

The unveiled face of IEI: Children Cancer Hospital—Egypt (CCHE-57357) experience

Case Report: Novel IRF2BP2 variant in a Japanese patient with impaired B-cell differentiation, Th1 polarization, and systemic immune dysregulation

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

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