Frontiers in Immunology | Primary Immunodeficiencies

Original Research

Published on 13 May 2026

Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome

in Primary Immunodeficiencies

Cristina Cifaldi
Lucia Pacillo
Chiara Rossetti
Silvia Di Cesare
Michele La Manna
Veronica Santilli
Beatrice Rivalta
Elisabetta Lembo
Mattia Moratti
Lucia Colucci

Frontiers in Immunology

doi 10.3389/fimmu.2026.1819182

414 views

Review

Published on 11 May 2026

Inborn errors of immunity: a structured model for paediatric-to-adult transition of care

in Primary Immunodeficiencies

Adele Civino
Federico Diomeda
Concetta D’Orio
Stefania Antonacci
Giulia Loiacono
Angelo Vacca
Baldassarre Martire

Frontiers in Immunology

doi 10.3389/fimmu.2026.1813944

429 views

Original Research

Accepted on 08 May 2026

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity

in Primary Immunodeficiencies

Willem T.K. Maassen
Lotte C.E.T. Pape
Tim Niemeijer
Anne-Margriet Heijink
Martine T. Meems-Veldhuis
Daniëlle J. Boerrigter
Gerben van der Vries
Helga Westers
Lennart F. Johansson
Joeri Van Der Velde

Frontiers in Immunology

396 views

Review

Published on 08 May 2026

Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections

in Primary Immunodeficiencies

Mengqing Qian
Jingyu Zhou
Qinhua Zhou
Qingla Zeng
Lingyun Shao
Wenhong Zhang
Qiaoling Ruan

Frontiers in Immunology

doi 10.3389/fimmu.2026.1781297

341 views

Original Research

Published on 08 May 2026

Calculated globulin as a surrogate marker for hypogammaglobulinemia: establishing clinical decision limits in a Brazilian population cohort

in Primary Immunodeficiencies

André L. O. Feodrippe
Gabriela Negritu
Ana C. Guersoni
Cristina M. Kokron

Frontiers in Immunology

doi 10.3389/fimmu.2026.1743499

464 views

Systematic Review

Published on 07 May 2026

Neurological manifestations in Wiskott–Aldrich syndrome: a systematic review

in Primary Immunodeficiencies

Nicholas Giulio Raccagni
Viktor Franco Milanesi
Giovanna Lucchini
Adriana Balduzzi
Giuseppe Occhino
Pietro Invernizzi
Serena Gasperini

Frontiers in Immunology

doi 10.3389/fimmu.2026.1829058

626 views

Original Research

Published on 07 May 2026

Evaluating the impact of leniolisib treatment on symptoms and health-related quality of life in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome

in Primary Immunodeficiencies

V. Koneti Rao
Allison Morgan
Troy R. Torgerson
Amanda Harrington
John Whalen
Ewen Munro
Jo Luscombe
Anna de la Motte
Beverly Romero
Roxana Bahar

Frontiers in Immunology

doi 10.3389/fimmu.2026.1739437

952 views

Correction

Published on 06 May 2026

Correction: First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics

in Primary Immunodeficiencies

Fatima az-Zahra Thawabteh
Sedrah Abu Rmilah
Aya Siaj
Rawan Abu khdair
Rabee Adwan

Frontiers in Immunology

doi 10.3389/fimmu.2026.1865717

396 views

Mini Review

Accepted on 05 May 2026

Pulmonary Surveillance in Inborn Errors of Immunity: Current Challenges and Emerging Approaches

in Primary Immunodeficiencies

Ernest Hoptioncann
Rachel L Eddy
Catherine M Biggs
Jonathan H Rayment

Frontiers in Immunology

128 views

Case Report

Published on 04 May 2026

Case Report: Treatment of refractory lung disease in systemic juvenile idiopathic arthritis with cyclophosphamide and rituximab combination therapy

in Primary Immunodeficiencies

William J. Freeman
Eileen C. Rife
Randy Q. Cron

Frontiers in Immunology

doi 10.3389/fimmu.2026.1798455

538 views

Case Report

Published on 01 May 2026

Case Report: Different faces of LRBA deficiency in five Moroccan families

in Primary Immunodeficiencies

Mohamed Hbibi
Ahamada Elamine
Ibtihal Benhsaien
Mounia Lakhdar Idrissi
Samira Tizki
Jalila El Bakkouri
Moustapha Hida
Fatima Ailal
Ahmed Aziz Bousfiha

Frontiers in Immunology

doi 10.3389/fimmu.2026.1807421

978 views

Original Research

Accepted on 30 Apr 2026

A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review

in Primary Immunodeficiencies

Xiaozhen Gong
Ye Feng
Qianlu Zhang
Lin Tong
Zijuan Feng
Xiaodong Zhao
Lina Zhou
Ying Dou

Frontiers in Immunology

187 views

General Commentary

Accepted on 30 Apr 2026

Commentary: The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia

in Primary Immunodeficiencies

Amr Kamel Khalil Ahmed
HIBA ABDELSEED

Frontiers in Immunology

280 views

Original Research

Published on 29 Apr 2026

Lanadelumab safety, efficacy, and pharmacokinetics in patients aged ≥12 with hereditary angioedema in China: an open-label, multicenter study

in Primary Immunodeficiencies

Yuxiang Zhi
Rongfei Zhu
Yuemei Sun
He Lai
Hong Ren
Yi Wang
Lin Dong

Frontiers in Immunology

doi 10.3389/fimmu.2026.1750735

540 views

Review

Published on 28 Apr 2026

Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy

in Primary Immunodeficiencies

Aleksandra Szczawińska-Popłonyk

Frontiers in Immunology

doi 10.3389/fimmu.2026.1815028

478 views

Correction

Published on 23 Apr 2026

Correction: IL2RG-related immunodeficiencies: from SCID to atypical presentations

in Primary Immunodeficiencies

Efrossini Briassouli
Nikolaos Marinakis
Vana Spoulou
Luigi DNotarangelo

Frontiers in Immunology

doi 10.3389/fimmu.2026.1839148

399 views

Original Research

Published on 23 Apr 2026

Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center

in Primary Immunodeficiencies

Bothainah Alaqeel
Faiz Aljohani
Nora Alrumayan
Ali Al-Ahmari
Reem Mohammed
Hawazen Alsaedi
Mouhab Ayas
Sultan Albuhairi
Sahar Elshorbagi
Rand Arnaout

Frontiers in Immunology

doi 10.3389/fimmu.2026.1829403

661 views

Original Research

Published on 23 Apr 2026

Significant decreased CXCR3+ phenotype Tfh1 cells in three Good’s syndrome patients

in Primary Immunodeficiencies

Yanxia Chen
Junwu Zhang
Jinyao Ni
Jing He
Jinlin Liu

Frontiers in Immunology

doi 10.3389/fimmu.2026.1816407

520 views

Systematic Review

Accepted on 22 Apr 2026

Overview of next-generation sequencing as a strategy to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review

in Primary Immunodeficiencies

Filipe Vicente dos Santos-Bueno
Elissa Santos Morgado
Bruna Nunes da Silva Agonigi
Milena Regina Gomes Lopes
Marcella de Oliveira Pinheiro
Luciene Lima da Silva
Margarida dos Santos Salú
Roberta Soares Faccion
Zilton Farias Meira De Vasconcelos

Frontiers in Immunology

293 views

Original Research

Published on 22 Apr 2026

Clinical description, genetic analysis and characterization of two NLRP12 heterozygous VUS variants

in Primary Immunodeficiencies

Asier Lizama-Muñoz
Juan Francisco Gutiérrez-Bautista
José María García-Aznar
Inmaculada Perea
Mónica Bernal
Miguel Ángel López-Nevot

Frontiers in Immunology

doi 10.3389/fimmu.2026.1755711

676 views

Original Research

Published on 22 Apr 2026

Clinical, immunological, treatment characteristics, and outcomes in 22 patients with major histocompatibility complex class II deficiency

in Primary Immunodeficiencies

Sule Haskologlu
Caner Aytekin
Candan Islamoglu
Sevgi Kostel Bal
Kubra Baskın
Baran Erman
Tanıl Kendirli
Serdar Ceylaner
Figen Dogu
Aydan Ikinciogullari

Frontiers in Immunology

doi 10.3389/fimmu.2026.1811502

712 views

Original Research

Published on 16 Apr 2026

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain)

in Primary Immunodeficiencies

Ana Argudo-Ramírez
Andrea Martín-Nalda
Javier Laguna
Jacques G. Riviere
José Manuel González de Aledo-Castillo
Rosa M. López-Galera
Roger Colobran
Laura Batlle-Masó
Yania Quintero
Carmen Martínez

Frontiers in Immunology

doi 10.3389/fimmu.2026.1803232

721 views

Case Report

Published on 14 Apr 2026

X-linked severe combined immunodeficiency due to IL2RG p.V223F variant: clinical evidence that support its pathogenicity- a case report

in Primary Immunodeficiencies

Bricia Melissa Gutiérrez-Zepeda
Juan Carlos Lona-Reyes
Mario Ernesto Cruz-Muñoz
Antonio Quintero-Ramos
Carlos Torres-Lozano
Beatriz Bayardo-Gutierrez
Alejandro Barrón-Balderas
Sergio D. Rosenzweig
Jennifer Stoddard
Julie Niemela

Frontiers in Immunology

doi 10.3389/fimmu.2026.1776191

811 views

Case Report

Published on 10 Apr 2026

Case Report: Novel AK2 variant causing reticular dysgenesis with hemophagocytic lymphohistiocytosis-like syndrome and invasive aspergillosis

in Primary Immunodeficiencies

Anas A. Hadid
Lana A. Shaiba
Adnan Hadid
Alkhansaa M. Alhag
Odai Alyateem
Nora Al-Saud
Badr Sobaih

Frontiers in Immunology

doi 10.3389/fimmu.2026.1787177

528 views

1,056 articles

articles

Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome

Inborn errors of immunity: a structured model for paediatric-to-adult transition of care

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity

Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections

Calculated globulin as a surrogate marker for hypogammaglobulinemia: establishing clinical decision limits in a Brazilian population cohort

Neurological manifestations in Wiskott–Aldrich syndrome: a systematic review

Evaluating the impact of leniolisib treatment on symptoms and health-related quality of life in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome

Correction: First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics

Pulmonary Surveillance in Inborn Errors of Immunity: Current Challenges and Emerging Approaches

Case Report: Treatment of refractory lung disease in systemic juvenile idiopathic arthritis with cyclophosphamide and rituximab combination therapy

Case Report: Different faces of LRBA deficiency in five Moroccan families

A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review

Commentary: The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia

Lanadelumab safety, efficacy, and pharmacokinetics in patients aged ≥12 with hereditary angioedema in China: an open-label, multicenter study

Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy

Correction: IL2RG-related immunodeficiencies: from SCID to atypical presentations

Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center

Significant decreased CXCR3+ phenotype Tfh1 cells in three Good’s syndrome patients

Overview of next-generation sequencing as a strategy to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review

Clinical description, genetic analysis and characterization of two NLRP12 heterozygous VUS variants

Clinical, immunological, treatment characteristics, and outcomes in 22 patients with major histocompatibility complex class II deficiency

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain)

X-linked severe combined immunodeficiency due to IL2RG p.V223F variant: clinical evidence that support its pathogenicity- a case report

Case Report: Novel AK2 variant causing reticular dysgenesis with hemophagocytic lymphohistiocytosis-like syndrome and invasive aspergillosis