Frontiers in Immunology | Primary Immunodeficiencies

Case Report

Published on 16 Feb 2026

Case Report: Novel MAGT1 pathogenic variant with significant atopy, hypogammaglobulinemia and viral skin infections

in Primary Immunodeficiencies

Lauren Gunderman
Christopher P. Ptak
Madeline Schutt
Kento Yahashiri
Elizabeth Lippner
Amer Khojah
Aisha Ahmed
Aaruni Khanolkar

Frontiers in Immunology

doi 10.3389/fimmu.2026.1754394

239 views

Case Report

Accepted on 12 Feb 2026

A 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant

in Primary Immunodeficiencies

Jie Gao
Xiaoling Jiang
Ye Tian
Rui Zhai
Yan Chen
Jinling Guo
Liulin Wu
Mei Hu

Frontiers in Immunology

134 views

Case Report

Published on 11 Feb 2026

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection

in Primary Immunodeficiencies

Yuta Narishige
Tomohiro Nakano
Yusuke Hoshi
Kenji Sonota
Hiroki Sakurai
Fumihiko Kakuta
Taku Koizumi
Yoji Sasahara
Daiki Abukawa

Frontiers in Immunology

doi 10.3389/fimmu.2026.1721204

259 views

Original Research

Accepted on 10 Feb 2026

Diagnostic Odyssey of Patients with the Rare Immunodeficiency Activated PI3 Kinase Delta Syndrome (APDS): Case study from expert and patient surveys

in Primary Immunodeficiencies

Hermann Wolf
Fabio Candotti
Roman Spelsberg
Georgios Sogkas
Hans-Holger Bleß
Kirsten H Herrmann
Fabian Hauck

Frontiers in Immunology

105 views

Original Research

Accepted on 09 Feb 2026

Impaired mucosal IgA response to SARS-CoV-2 in patients with inborn errors of immunity

in Primary Immunodeficiencies

Fanglei Zuo
Samaneh Delavari
Sima Shokri
Yating Wang
Farhad Abolnezhadian
Sara Iranparast
Fereshte Salami
Samin Sharafian
Zahra Chavoshzadeh
Nima Rezaei

Frontiers in Immunology

Original Research

Accepted on 09 Feb 2026

Predictive factors for severity and poor treatment response in children with Evans syndrome: A retrospective cohort study

in Primary Immunodeficiencies

Monia BEN KHALED
Marwa Ben Ayed
Zaid Zaroui
Ilhem Ben Fraj
Samia Rekaya
NAJLA MEKKI
Yosra Chebbi
Ben Taieb Aicha
Amani Merdassi
Ikram Zaiter

Frontiers in Immunology

Case Report

Accepted on 06 Feb 2026

Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening

in Primary Immunodeficiencies

Hope Retif
Devyn Rolhfs Rivera
Jariya Upadia
Christian Wysocki
Andrew Abreo
Luke A Wall

Frontiers in Immunology

124 views

Original Research

Published on 06 Feb 2026

Abatacept treatment shows a modulating effect on Treg subsets in LRBA-deficient patients

in Primary Immunodeficiencies

Sabine Donhauser
Emilia Salzmann-Manrique
Leon Maximilian Lueck
Julia Fekadu-Siebald
Ralf Schubert
Sabine Huenecke
Shahrzad Bakhtiar

Frontiers in Immunology

doi 10.3389/fimmu.2026.1697915

903 views

Original Research

Published on 06 Feb 2026

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia

in Primary Immunodeficiencies

Andrey Marakhonov
Anna Mukhina
Irina Efimova
Natalia Balinova
Maria Ampleeva
Anastasia Bobreshova
Yulia Rodina
Dmitry Pershin
Viktoriia Zabnenkova
Oxana Ryzhkova

Frontiers in Immunology

doi 10.3389/fimmu.2026.1742811

1,172 views

Case Report

Published on 06 Feb 2026

Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity

in Primary Immunodeficiencies

Chee Mun Chan
Elisabeth Sue Shuen Fong
Daryl Yuan Chong Yeo
Elizabeth Y. Ang
Isabella Ming Zhen Liu
Hian Tat Ong
Si Min Chan
Hui-Lin Chin
Frances Shi Hui Yeap
Chee Kwang Kee

Frontiers in Immunology

doi 10.3389/fimmu.2026.1751423

1,066 views

Original Research

Accepted on 05 Feb 2026

Risk factors and surrogate indicators for cardiovascular disease are prevalent in Common Variable Immunodeficiency and associate with inflammatory phenotype

in Primary Immunodeficiencies

Aidan Jia Sheng Yu
Fernando Moreira
Andrew Symes
Keegan Curlewis
Mary O'Sullivan
Joseph Jayasundera
Fatema-Zahra El Rhermoul
Charley Lever
Kostadin Stoenchev
Ke Li Chow

Frontiers in Immunology

126 views

Original Research

Accepted on 05 Feb 2026

The molecular landscape of peach allergy in Tunisia: New Insights

in Primary Immunodeficiencies

Nader Ben Nejma
Dhouha Krir
Yousr Galai
Ahlem Ben Hmid
Ines Ben Sghaier
Yosra Nasri
Hayet Kbaier
Louzir Hechmi
Nissaf Bouaffif Alya
Mélika Ben Ahmed

Frontiers in Immunology

212 views

Case Report

Accepted on 04 Feb 2026

Overlapping syndrome of anti-NMDAR Encephalitis and MOG-associated disease: First African pediatric case report and literature insights

in Primary Immunodeficiencies

Dhouha Krir
Maha Jamoussi
Ahlem Ben Hmid
Hanene Ben Rhouma
Sonia Nagi
Yousr Galai
SAMAR SAMOUD
Hédia Klaa
Ichraf Kraoua
Imen Zamali

Frontiers in Immunology

Case Report

Published on 30 Jan 2026

Case Report: IL2RA (CD25) deficiency: first reported cases in Morocco

in Primary Immunodeficiencies

Ahamada Elamine
Ibtihal Benhsaien
Abderrahmane Errami
Yousra Bellarhrib
Zahra Aadam
Mohammed Fahi
Ahmed Aziz Bousfiha
Jalila El Bakkouri
Fatima Ailal

Frontiers in Immunology

doi 10.3389/fimmu.2026.1753561

968 views

Original Research

Accepted on 29 Jan 2026

Improving Screening For Antibody Deficiency Using Calculated Globulin And Serum Protein Electrophoresis

in Primary Immunodeficiencies

Linda Mokrane
Azzeddine Tahiat
SIHEM TAGUEMOUNT
Hassen MESSAOUDI
Nadia Boukhenfouf
Abdelbassat Ketfi
Leila Smati
RACHIDA BOUKARI
Kamel Djenouhat

Frontiers in Immunology

174 views

Case Report

Published on 28 Jan 2026

Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency

in Primary Immunodeficiencies

Aléhandra Desjardins
Louis Marois
Ágnes Donkó
Guilhem Cros
Marc-Antoine Bédard
Marie-Lorna Paul
Amy P. Hsu
Emma Darbinian
Géraldine Gosse
Thomas L. Leto

Frontiers in Immunology

doi 10.3389/fimmu.2026.1723142

822 views

Original Research

Published on 27 Jan 2026

Expanding the clinical and immunological phenotypes of COPB1 deficiency

in Primary Immunodeficiencies

Fayhan Alroqi
Thekra Algholaiqa
Sulaiman Alajaji
Abeer Altuwaijri
Nouf Althubaiti

Frontiers in Immunology

doi 10.3389/fimmu.2026.1752685

573 views

Review

Accepted on 26 Jan 2026

IL2RG-Related Immunodeficiencies: From SCID to Atypical Presentations

in Primary Immunodeficiencies

Efrossini Briassouli
Nikolaos Marinakis
Vana Spoulou
Luigi D. Notarangelo

Frontiers in Immunology

173 views

Case Report

Published on 26 Jan 2026

Case report: IL12RB1 deficiency in an infant with disseminated Bacille Calmette-Guérin disease

in Primary Immunodeficiencies

Xiao Ma
Juping Chen
Junqiao Cheng
Jingbo Wang

Frontiers in Immunology

doi 10.3389/fimmu.2025.1728612

772 views

Original Research

Published on 23 Jan 2026

Expanding the clinical spectrum of interleukin-2 receptor alpha chain deficiency: two novel cases with long-term hematopoietic stem cell transplantation outcome and literature review

in Primary Immunodeficiencies

Maha Alzubedy
Ahmed Sayed Osman
Huda Alajlan
Anas M Alazami
Hamoud Al-Mousa

Frontiers in Immunology

doi 10.3389/fimmu.2026.1716101

833 views

Brief Research Report

Published on 23 Jan 2026

Atopy and immune dysregulation among patients with chronic granulomatous disease

in Primary Immunodeficiencies

Sophie Eisen
Shani Nagler-Bunker
Matilde Leon-Ponte
Yogi Chopra
Julia Upton
Vy Hong-Diep Kim
Eyal Grunebaum

Frontiers in Immunology

doi 10.3389/fimmu.2025.1739568

677 views

Case Report

Published on 21 Jan 2026

Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation

in Primary Immunodeficiencies

Zaid Al Ali
Khaled F. Al-Ali
Fatima Bader
Nancy Alhalabiya
Deema Sous
Ayah Abulehia

Frontiers in Immunology

doi 10.3389/fimmu.2025.1742293

919 views

Case Report

Published on 15 Jan 2026

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia

in Primary Immunodeficiencies

Peng Liu
Xiyan Tian
Daokui Ding
Lei Wang
Peile Wang

Frontiers in Immunology

doi 10.3389/fimmu.2026.1740720

690 views

Original Research

Accepted on 13 Jan 2026

Epidemiological and Clinical Characteristics of Hereditary Angioedema in the Baltic States

in Primary Immunodeficiencies

Natalja Kurjane
Adine Kanepa
Signe Purina
Lasma Lapina
Krista Ress
Marget Savisaar
Ieva Bajoriuniene
Edita Gasiuniene
Kotryna Linauskiene
Anželika Chomičienė

Frontiers in Immunology

170 views

1,017 articles

articles

Case Report: Novel MAGT1 pathogenic variant with significant atopy, hypogammaglobulinemia and viral skin infections

A 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection

Diagnostic Odyssey of Patients with the Rare Immunodeficiency Activated PI3 Kinase Delta Syndrome (APDS): Case study from expert and patient surveys

Impaired mucosal IgA response to SARS-CoV-2 in patients with inborn errors of immunity

Predictive factors for severity and poor treatment response in children with Evans syndrome: A retrospective cohort study

Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening

Abatacept treatment shows a modulating effect on Treg subsets in LRBA-deficient patients

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia

Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity

Risk factors and surrogate indicators for cardiovascular disease are prevalent in Common Variable Immunodeficiency and associate with inflammatory phenotype

The molecular landscape of peach allergy in Tunisia: New Insights

Overlapping syndrome of anti-NMDAR Encephalitis and MOG-associated disease: First African pediatric case report and literature insights

Case Report: IL2RA (CD25) deficiency: first reported cases in Morocco

Improving Screening For Antibody Deficiency Using Calculated Globulin And Serum Protein Electrophoresis

Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency

Expanding the clinical and immunological phenotypes of COPB1 deficiency

IL2RG-Related Immunodeficiencies: From SCID to Atypical Presentations

Case report: IL12RB1 deficiency in an infant with disseminated Bacille Calmette-Guérin disease

Expanding the clinical spectrum of interleukin-2 receptor alpha chain deficiency: two novel cases with long-term hematopoietic stem cell transplantation outcome and literature review

Atopy and immune dysregulation among patients with chronic granulomatous disease

Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia

Epidemiological and Clinical Characteristics of Hereditary Angioedema in the Baltic States