Frontiers in Immunology | Primary Immunodeficiencies

Brief Research Report

Published on 06 Feb 2025

De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency

in Primary Immunodeficiencies

Laura Batlle-Masó
Janire Perurena-Prieto
Laura Viñas-Giménez
Aina Aguiló-Cucurull
Paula Fernández-Álvarez
Johana Gil-Serrano
Mar Guilarte
Roger Colobran

Frontiers in Immunology

doi 10.3389/fimmu.2025.1550380

985 views

Original Research

Published on 05 Feb 2025

Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies

in Primary Immunodeficiencies

Ekaterina S. Porfireva
Anton D. Zadorozhny
Anastasia V. Rudik
Dmitry A. Filimonov
Alexey A. Lagunin

Frontiers in Immunology

doi 10.3389/fimmu.2025.1492751

925 views

Case Report

Published on 04 Feb 2025

Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case report

in Primary Immunodeficiencies

Le Nguyen Ngoc Quynh
Binh Nguyen Thanh
Lien Luong Thi
Thuy Nguyen Thi Dieu
Duong Dang Anh
Pamela P. Lee
Tung Cao Viet
Dien Tran Minh

Frontiers in Immunology

doi 10.3389/fimmu.2025.1495666

1,487 views

Case Report

Published on 31 Jan 2025

Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2

in Primary Immunodeficiencies

Yan Long
Chenghan Wang
Jie Xiao
Yunhua Huang
Xiaoting Ling
Chaoyu Huang
Ying Chen
Jiaqi Luo
Rongheng Tang
Faquan Lin

Frontiers in Immunology

doi 10.3389/fimmu.2025.1517417

853 views

Case Report

Published on 31 Jan 2025

Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency

in Primary Immunodeficiencies

Anna Roppelt
Ulyana Markina
Irina Beloglazova
Vasily Parshin
Dmitry Kanner
Dmitry Pershin
Mariia Fadeeva
Elena Raykina
Maxim Aleksenko
Alexander Karaulov

Frontiers in Immunology

doi 10.3389/fimmu.2024.1523256

891 views

Original Research

Published on 29 Jan 2025

Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks

in Primary Immunodeficiencies

Laura Miguel Berenguel
Carla Gianelli
Elisabet Matas Pérez
Teresa del Rosal
Ana Méndez Echevarría
Ángel Robles Marhuenda
Marta Feito Rodríguez
Maria Teresa Caballero Molina
Lorena Magallares García
Brenda Sánchez Garrido

Frontiers in Immunology

doi 10.3389/fimmu.2024.1499415

789 views

Case Report

Published on 28 Jan 2025

Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency

in Primary Immunodeficiencies

Sophia Trombello
Andrea Jarisch
Andre Willasch
Eva Rettinger
Julia Fekadu-Siebald
Dirk Holzinger
Roland Adelmann
Peter Bader
Shahrzad Bakhtiar

Frontiers in Immunology

doi 10.3389/fimmu.2024.1507494

992 views

Original Research

Published on 28 Jan 2025

Definition of clinical immunology around the globe

in Primary Immunodeficiencies

José C. Crispín
Tineke Cantaert
Alberto Pinzon-Charry
Domenico Mavilio
Ahmed Seri
Pierre Miossec

Frontiers in Immunology

doi 10.3389/fimmu.2025.1483391

942 views

Brief Research Report

Published on 23 Jan 2025

Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome

in Primary Immunodeficiencies

Elisabetta Toriello
Rosa Maritato
Antonio De Rosa
Maria Valeria Esposito
Carla Damiano
Carmen Rosano
Emilia Cirillo
Antonietta Tarallo
Cosimo Abagnale
Francesca Cillo

Frontiers in Immunology

doi 10.3389/fimmu.2025.1517347

724 views

Original Research

Published on 22 Jan 2025

Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study

in Primary Immunodeficiencies

Huifeng Fan
Zhiyong Yang
Yuhui Wu
Xiulan Lu
Tian Li
Xuyang Lu
Gen Lu
Liming He
Guoping Lu
Li Huang

Frontiers in Immunology

doi 10.3389/fimmu.2025.1492000

958 views

Original Research

Published on 21 Jan 2025

Piloting an automated query and scoring system to facilitate APDS patient identification from health systems

in Primary Immunodeficiencies

Amy M. FitzPatrick
Aaron T. Chin
Sharon Nirenberg
Charlotte Cunningham-Rundles
Keith Sacco
Jesse Perlmutter
Joseph F. Dasso
Athanasios Tsalatsanis
Jay Maru
Jessica Creech

Frontiers in Immunology

doi 10.3389/fimmu.2024.1508780

1,273 views

Original Research

Published on 21 Jan 2025

Humoral and cell-mediated immune responses to COVID-19 vaccines up to 6 months post three-dose primary series in adults with inborn errors of immunity and their breakthrough infections

in Primary Immunodeficiencies

Dana Unninayar
Emilia L. Falcone
Hugo Chapdelaine
Donald C. Vinh
Karina A. Top
Beata Derfalvi
Thomas B. Issekutz
Hélène Decaluwe
Anne Pham-Huy
Julia Upton

Frontiers in Immunology

doi 10.3389/fimmu.2024.1501908

1,430 views

Original Research

Published on 20 Jan 2025

Infectious outcomes of a standardized subcutaneous immunoglobulin dose reduction strategy in primary immune deficiencies amid global shortage

in Primary Immunodeficiencies

Pedro Moral Moral
Marta Dafne Cabanero-Navalon
Paula Teresa López-León
Héctor Balastegui-Martín
Sandra Martínez Mercader
Amparo Mir
Victor Garcia-Bustos

Frontiers in Immunology

doi 10.3389/fimmu.2024.1527514

804 views

Correction

Published on 14 Jan 2025

Corrigendum: Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation

in Primary Immunodeficiencies

Yu Huang
Lu Li
Ran Chen
Lang Yu
Shunkai Zhao
Yanjun Jia
Ying Dou
Zhiyong Zhang
Yunfei An
Xuemei Tang

Frontiers in Immunology

doi 10.3389/fimmu.2024.1544964

423 views

Perspective

Published on 13 Jan 2025

Expert insights on Hodgkin’s lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment

in Primary Immunodeficiencies

Francesca Conti
Mattia Moratti
Elena Sabattini
Pier Luigi Zinzani

Frontiers in Immunology

doi 10.3389/fimmu.2024.1517543

965 views

Case Report

Published on 08 Jan 2025

Dual in vivo T cell depleted haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and anti-thymocyte globulin as a third salvage transplant for leukocyte adhesion deficiency with graft failure: a case report

in Primary Immunodeficiencies

Azadeh Kiumarsi
Amirarsalan Alaei
Mohsen Nikbakht
Saeed Mohammadi
Mohammad Reza Ostad-Ali
Zahra Rasti
Tahereh Rostami

Frontiers in Immunology

doi 10.3389/fimmu.2024.1475448

730 views